ClinVar for MedGen (Select 903767) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370357	NM_006766.5(KAT6A):c.4707C>A (p.Tyr1569Ter)	KAT6A (Y1569*)	Single nucleotide variant (nonsense)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 3338566	NM_006766.5(KAT6A):c.3898dup (p.Glu1300fs)	KAT6A (E1300fs)	Duplication (frameshift variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GPathogenic
Select item 3255010	NM_006766.5(KAT6A):c.265G>A (p.Gly89Arg)	KAT6A (G89R)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 3255009	NM_006766.5(KAT6A):c.152T>C (p.Leu51Ser)	KAT6A (L51S)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GLikely pathogenic
Select item 3255008	NM_006766.5(KAT6A):c.50T>C (p.Ile17Thr)	KAT6A (I17T)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GLikely pathogenic
Select item 3254794	NM_006766.5(KAT6A):c.441dup (p.Arg148fs)	KAT6A (R148fs)	Duplication (frameshift variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GPathogenic
Select item 3242110	NM_006766.5(KAT6A):c.379G>C (p.Gly127Arg)	KAT6A (G127R)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 3241983	NM_006766.5(KAT6A):c.710-3T>C	KAT6A	Single nucleotide variant (intron variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 3238812	NM_006766.5(KAT6A):c.5575T>A (p.Ser1859Thr)	KAT6A (S1859T)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 3237187	NM_006766.5(KAT6A):c.3887dup (p.Glu1297fs)	KAT6A (E1297fs)	Duplication (frameshift variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GLikely pathogenic
Select item 3068666	NM_006766.5(KAT6A):c.2734C>T (p.Gln912Ter)	KAT6A (Q912*)	Single nucleotide variant (nonsense)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GLikely pathogenic
Select item 3062142	NM_006766.5(KAT6A):c.2525del (p.Ser842fs)	KAT6A (S842fs)	Deletion (frameshift variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	Gnot provided
Select item 3062135	NM_006766.5(KAT6A):c.3824_3828del (p.Glu1275fs)	KAT6A (E1275fs)	Microsatellite (frameshift variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GPathogenic
Select item 3062049	NM_006766.5(KAT6A):c.4980del (p.Gln1660fs)	KAT6A (Q1660fs)	Deletion (frameshift variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GPathogenic
Select item 3024293	NM_006766.5(KAT6A):c.1481A>G (p.Gln494Arg)	KAT6A (Q494R)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 2725629	NM_006766.5(KAT6A):c.5961G>A (p.Met1987Ile)	KAT6A (M1987I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2690628	NM_006766.5(KAT6A):c.5161_5165del (p.Pro1721fs)	KAT6A (P1721fs)	Deletion (frameshift variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GLikely pathogenic
Select item 2689274	NM_006766.5(KAT6A):c.1210A>G (p.Lys404Glu)	KAT6A (K404E)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 2689273	NM_006766.5(KAT6A):c.3234A>C (p.Glu1078Asp)	KAT6A (E1078D)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 2689272	NM_006766.5(KAT6A):c.5548C>T (p.Pro1850Ser)	KAT6A (P1850S)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome +1 more	GUncertain significance
Select item 2689271	NM_006766.5(KAT6A):c.895C>T (p.Arg299Cys)	KAT6A (R299C)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 2664922	NM_006766.5(KAT6A):c.3061dup (p.Arg1021fs)	KAT6A (R1021fs)	Duplication (frameshift variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 2663864	NM_006766.5(KAT6A):c.3721del (p.Glu1241fs)	KAT6A (E1241fs)	Deletion (frameshift variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GLikely pathogenic
Select item 2663859	NM_006766.5(KAT6A):c.3344_3350del (p.Asp1115fs)	KAT6A (D1115fs)	Deletion (frameshift variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GPathogenic
Select item 2663817	NM_006766.5(KAT6A):c.2927del (p.Gly976fs)	KAT6A (G976fs)	Deletion (frameshift variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GPathogenic
Select item 2584655	NM_006766.5(KAT6A):c.5705A>G (p.Asn1902Ser)	KAT6A (N1902S)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 2584389	NM_006766.5(KAT6A):c.5505_5506del (p.Asn1836fs)	KAT6A (N1836fs)	Deletion (frameshift variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GPathogenic
Select item 2582558	NM_006766.5(KAT6A):c.5235dup (p.Gln1746fs)	KAT6A (Q1746fs)	Duplication (frameshift variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GLikely pathogenic
Select item 2582345	NM_006766.5(KAT6A):c.3629C>A (p.Thr1210Asn)	KAT6A (T1210N)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 2505542	NM_006766.5(KAT6A):c.2242C>T (p.Arg748Cys)	KAT6A (R748C)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 2444503	NM_006766.5(KAT6A):c.3670_3672del (p.Lys1224del)	KAT6A (K1224del)	Deletion (inframe_deletion)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 2442800	NM_006766.5(KAT6A):c.5924A>G (p.Asn1975Ser)	KAT6A (N1975S)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 2441906	NM_006766.5(KAT6A):c.4229_4230del (p.Lys1410fs)	KAT6A (K1410fs)	Deletion (frameshift variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GLikely pathogenic
Select item 2432969	NM_006766.5(KAT6A):c.4768G>C (p.Gly1590Arg)	KAT6A (G1590R)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 2432968	NM_006766.5(KAT6A):c.2228A>G (p.Gln743Arg)	KAT6A (Q743R)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 2432967	NM_006766.5(KAT6A):c.3386G>A (p.Arg1129Gln)	KAT6A (R1129Q)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 2432966	NM_006766.5(KAT6A):c.3510A>C (p.Lys1170Asn)	KAT6A (K1170N)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 2432965	NM_006766.5(KAT6A):c.4373G>A (p.Ser1458Asn)	KAT6A (S1458N)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 2432964	NM_006766.5(KAT6A):c.4643G>A (p.Ser1548Asn)	KAT6A (S1548N)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 2432963	NM_006766.5(KAT6A):c.4533G>C (p.Gln1511His)	KAT6A (Q1511H)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 2432962	NM_006766.5(KAT6A):c.4528A>G (p.Thr1510Ala)	KAT6A (T1510A)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 2432961	NM_006766.5(KAT6A):c.593A>C (p.Lys198Thr)	KAT6A (K198T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2429909	NM_006766.5(KAT6A):c.772C>T (p.Gln258Ter)	KAT6A (Q258*)	Single nucleotide variant (nonsense)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GLikely pathogenic
Select item 2227868	NM_006766.5(KAT6A):c.4297C>T (p.Gln1433Ter)	KAT6A (Q1433*)	Single nucleotide variant (nonsense)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2184902	NM_006766.5(KAT6A):c.806G>A (p.Arg269Gln)	KAT6A (R269Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2172976	NM_006766.5(KAT6A):c.1040C>T (p.Thr347Met)	KAT6A (T347M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2000579	NM_006766.5(KAT6A):c.2980C>T (p.Pro994Ser)	KAT6A (P994S)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1991061	NM_006766.5(KAT6A):c.2217C>G (p.Phe739Leu)	KAT6A (F739L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1940693	NM_006766.5(KAT6A):c.5884G>A (p.Ala1962Thr)	KAT6A (A1962T)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1935032	NM_006766.5(KAT6A):c.830A>G (p.Asn277Ser)	KAT6A (N277S)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1918438	NM_006766.5(KAT6A):c.4898A>G (p.Lys1633Arg)	KAT6A (K1633R)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome +1 more	GUncertain significance
Select item 1914809	NM_006766.5(KAT6A):c.5383G>A (p.Ala1795Thr)	KAT6A (A1795T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1805826	NM_006766.5(KAT6A):c.5600C>G (p.Ala1867Gly)	KAT6A (A1867G)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GLikely benign
Select item 1805653	NM_006766.5(KAT6A):c.3399_3400dup (p.Lys1134fs)	KAT6A (K1134fs)	Duplication (frameshift variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GPathogenic
Select item 1805561	NM_006766.5(KAT6A):c.3820G>T (p.Glu1274Ter)	KAT6A (E1274*)	Single nucleotide variant (nonsense)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GPathogenic
Select item 1805338	NM_006766.5(KAT6A):c.3377del (p.Ser1126fs)	KAT6A (S1126fs)	Deletion (frameshift variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GPathogenic
Select item 1805333	NM_006766.5(KAT6A):c.3631_3632del (p.Thr1210_Val1211insTer)	KAT6A	Deletion (nonsense)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GPathogenic
Select item 1803042	NM_006766.5(KAT6A):c.4667T>C (p.Ile1556Thr)	KAT6A (I1556T)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GLikely pathogenic
Select item 1710211	NM_006766.5(KAT6A):c.4625C>T (p.Ser1542Phe)	KAT6A (S1542F)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 1709282	NM_006766.5(KAT6A):c.1039_1040del (p.Thr347fs)	KAT6A (T347fs)	Microsatellite (frameshift variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GLikely pathogenic
Select item 1698914	NM_006766.5(KAT6A):c.1133C>G (p.Ser378Ter)	KAT6A (S378*)	Single nucleotide variant (nonsense)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GPathogenic
Select item 1697352	NM_006766.5(KAT6A):c.376A>T (p.Lys126Ter)	KAT6A (K126*)	Single nucleotide variant (nonsense)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GPathogenic
Select item 1696604	NM_006766.5(KAT6A):c.3775A>G (p.Asn1259Asp)	KAT6A (N1259D)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome +1 more	GUncertain significance
Select item 1693305	NM_006766.5(KAT6A):c.5287A>G (p.Ile1763Val)	KAT6A (I1763V)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 1684574	NM_006766.5(KAT6A):c.4759T>G (p.Cys1587Gly)	KAT6A (C1587G)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 1678599	NM_006766.5(KAT6A):c.5001_5012dup (p.Ala1669_Pro1672dup)	KAT6A	Duplication (inframe_insertion)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 1342656	NM_006766.5(KAT6A):c.2696A>G (p.Tyr899Cys)	KAT6A (Y899C)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1341746	NM_006766.5(KAT6A):c.254C>T (p.Pro85Leu)	KAT6A (P85L)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 1334703	NM_006766.5(KAT6A):c.4861C>T (p.Gln1621Ter)	KAT6A (Q1621*)	Single nucleotide variant (nonsense)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GLikely pathogenic
Select item 1334428	NM_006766.5(KAT6A):c.3921_3922del (p.Glu1307fs)	KAT6A (E1307fs)	Microsatellite (frameshift variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GLikely pathogenic
Select item 1333695	NM_006766.5(KAT6A):c.5123del (p.Asn1708fs)	KAT6A (N1708fs)	Deletion (frameshift variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GLikely pathogenic
Select item 1328184	NM_006766.5(KAT6A):c.2135G>A (p.Ser712Asn)	KAT6A (S712N)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 1325410	NM_006766.5(KAT6A):c.1312C>T (p.Arg438Ter)	KAT6A (R438*)	Single nucleotide variant (nonsense)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GPathogenic
Select item 1323134	NM_006766.5(KAT6A):c.4398_4399del (p.Gln1467fs)	KAT6A (Q1467fs)	Deletion (frameshift variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GPathogenic
Select item 1300149	NM_006766.5(KAT6A):c.2842C>T (p.Arg948Ter)	KAT6A (R948*)	Single nucleotide variant (nonsense)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GLikely pathogenic
Select item 1285569	NM_006766.5(KAT6A):c.1405C>T (p.Arg469Ter)	KAT6A (R469*)	Single nucleotide variant (nonsense)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome +1 more	GPathogenic
Select item 1285505	NM_006766.5(KAT6A):c.752G>A (p.Arg251Gln)	KAT6A (R251Q)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome +1 more	GUncertain significance
Select item 1223761	NM_006766.5(KAT6A):c.3264G>T (p.Leu1088Phe)	KAT6A (L1088F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1184331	NM_006766.5(KAT6A):c.2911C>T (p.Arg971Cys)	KAT6A (R971C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1082502	NM_006766.5:c.3411del	KAT6A	Deletion	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GPathogenic
Select item 1048764	NM_006766.5(KAT6A):c.1146_1147insG (p.Tyr383fs)	KAT6A (Y383fs)	Insertion (frameshift variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GPathogenic
Select item 1034309	NM_006766.5(KAT6A):c.4598T>C (p.Met1533Thr)	KAT6A (M1533T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1034308	NM_006766.5(KAT6A):c.2463del (p.Asn821fs)	KAT6A (N821fs)	Deletion (frameshift variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GPathogenic
Select item 1028560	NM_006766.5(KAT6A):c.5299C>G (p.His1767Asp)	KAT6A (H1767D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1028559	NM_006766.5(KAT6A):c.5207C>T (p.Pro1736Leu)	KAT6A (P1736L)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 1028558	NM_006766.5(KAT6A):c.4960C>A (p.Pro1654Thr)	KAT6A (P1654T)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 1028557	NM_006766.5(KAT6A):c.4445C>T (p.Pro1482Leu)	KAT6A (P1482L)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 1028556	NM_006766.5(KAT6A):c.3778A>G (p.Ser1260Gly)	KAT6A (S1260G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1028555	NM_006766.5(KAT6A):c.2989C>T (p.Pro997Ser)	KAT6A (P997S)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 1028554	NM_006766.5(KAT6A):c.2947G>T (p.Gly983Cys)	KAT6A (G983C)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 1028553	NM_006766.5(KAT6A):c.2791G>A (p.Gly931Arg)	KAT6A (G931R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 988752	NM_006766.5(KAT6A):c.4348_4349del (p.Leu1450fs)	KAT6A (L1450fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 988723	NM_006766.5(KAT6A):c.1907_1908del (p.Lys636fs)	KAT6A (K636fs)	Deletion (frameshift variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GLikely pathogenic
Select item 984972	NM_006766.5(KAT6A):c.3039+1G>A	KAT6A	Single nucleotide variant (splice donor variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GPathogenic
Select item 984649	NM_006766.5(KAT6A):c.4945C>T (p.Gln1649Ter)	KAT6A (Q1649*)	Single nucleotide variant (nonsense)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GPathogenic
Select item 982773	NM_006766.5(KAT6A):c.4070del (p.Gln1357fs)	KAT6A (Q1357fs)	Deletion (frameshift variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GLikely pathogenic
Select item 976788	NM_006766.5(KAT6A):c.4664G>A (p.Ser1555Asn)	KAT6A (S1555N)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GLikely pathogenic
Select item 976403	NM_006766.5(KAT6A):c.766C>T (p.Arg256Trp)	KAT6A (R256W)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GUncertain significance
Select item 975406	NM_006766.5(KAT6A):c.4666A>T (p.Ile1556Phe)	KAT6A (I1556F)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GLikely pathogenic
Select item 975405	NM_006766.5(KAT6A):c.3034C>T (p.Arg1012Ter)	KAT6A (R1012*)	Single nucleotide variant (nonsense)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GPathogenic

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