"GeneDx"[submitter] AND "AHDC1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59928	GRCh38/hg38 1p36.11-35.3(chr1:26807012-27685191)x1	AHDC1, CD164L2 +98 more	Copy number loss	See cases	GPathogenic
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic
Select item 1232053	NM_001371928.1(AHDC1):c.4797C>T (p.Thr1599=)	AHDC1	Single nucleotide variant (synonymous variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +1 more	GBenign/Likely benign
Select item 2572889	NM_001371928.1(AHDC1):c.4790C>G (p.Thr1597Arg)	AHDC1 (T1597R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 783928	NM_001371928.1(AHDC1):c.4782C>T (p.Pro1594=)	AHDC1	Single nucleotide variant (synonymous variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +1 more	GBenign
Select item 2504529	NM_001371928.1(AHDC1):c.4739G>T (p.Gly1580Val)	AHDC1 (G1580V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2468957	NM_001371928.1(AHDC1):c.4667T>A (p.Leu1556Gln)	AHDC1 (L1556Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1048836	NM_001371928.1(AHDC1):c.4603G>A (p.Ala1535Thr)	AHDC1 (A1535T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 801464	NM_001371928.1(AHDC1):c.4585C>T (p.Arg1529Cys)	AHDC1 (R1529C)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1712775	NM_001371928.1(AHDC1):c.4519_4575del (p.Ser1507_Pro1525del)	AHDC1	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2442681	NM_001371928.1(AHDC1):c.4567del (p.Arg1523fs)	AHDC1 (R1523fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1030033	NM_001371928.1(AHDC1):c.4562T>C (p.Met1521Thr)	AHDC1 (M1521T)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +1 more	GUncertain significance
Select item 760719	NM_001371928.1(AHDC1):c.4533G>A (p.Thr1511=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1801919	NM_001371928.1(AHDC1):c.4508C>T (p.Pro1503Leu)	AHDC1 (P1503L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1191374	NM_001371928.1(AHDC1):c.4492G>A (p.Ala1498Thr)	AHDC1 (A1498T)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 419512	NM_001371928.1(AHDC1):c.4482del (p.Thr1495fs)	AHDC1 (T1495fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1215530	NM_001371928.1(AHDC1):c.4443_4447del (p.Lys1482fs)	AHDC1 (K1482fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 503934	NM_001371928.1(AHDC1):c.4429_4430delinsT (p.Pro1477fs)	AHDC1 (P1477fs)	Indel (frameshift variant)	not provided	GPathogenic
Select item 2499886	NM_001371928.1(AHDC1):c.4418C>T (p.Ala1473Val)	AHDC1 (A125V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 737243	NM_001371928.1(AHDC1):c.4384A>C (p.Lys1462Gln)	AHDC1 (K1462Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 387526	NM_001371928.1(AHDC1):c.4369G>A (p.Asp1457Asn)	AHDC1 (D1457N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1721767	NM_001371928.1(AHDC1):c.4357C>A (p.Gln1453Lys)	AHDC1 (H105N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1245507	NM_001371928.1(AHDC1):c.4329C>G (p.His1443Gln)	AHDC1 (H1443Q)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +2 more	GBenign/Likely benign
Select item 450314	NM_001371928.1(AHDC1):c.4291G>A (p.Gly1431Arg)	AHDC1 (G1431R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 737188	NM_001371928.1(AHDC1):c.4266C>T (p.Cys1422=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1233119	NM_001371928.1(AHDC1):c.4254G>A (p.Lys1418=)	AHDC1	Single nucleotide variant (synonymous variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +1 more	GBenign/Likely benign
Select item 1194417	NM_001371928.1(AHDC1):c.4218G>A (p.Leu1406=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734106	NM_001371928.1(AHDC1):c.4200C>T (p.Pro1400=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 777902	NM_001371928.1(AHDC1):c.4178G>A (p.Gly1393Asp)	AHDC1 (G1393D)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +1 more	GBenign/Likely benign
Select item 2443655	NM_001371928.1(AHDC1):c.4123C>T (p.Leu1375Phe)	AHDC1 (L1375F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1211634	NM_001371928.1(AHDC1):c.4045A>G (p.Met1349Val)	AHDC1 (M1349V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1306030	NM_001371928.1(AHDC1):c.4039T>C (p.Tyr1347His)	AHDC1 (Y1347H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363764	NM_001371928.1(AHDC1):c.4036C>A (p.Pro1346Thr)	AHDC1 (P1346T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1200138	NM_001371928.1(AHDC1):c.4031T>C (p.Ile1344Thr)	AHDC1 (I1344T)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 711822	NM_001371928.1(AHDC1):c.4021T>G (p.Cys1341Gly)	AHDC1 (C1341G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1190481	NM_001371928.1(AHDC1):c.4000G>A (p.Gly1334Ser)	AHDC1 (G1334S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1308944	NM_001371928.1(AHDC1):c.3869C>T (p.Ala1290Val)	AHDC1 (A1290V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 916511	NM_001371928.1(AHDC1):c.3855G>C (p.Glu1285Asp)	AHDC1 (E1285D)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1189438	NM_001371928.1(AHDC1):c.3813G>A (p.Pro1271=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 208157	NM_001371928.1(AHDC1):c.3809del (p.Gln1270fs)	AHDC1 (Q1270fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1306703	NM_001371928.1(AHDC1):c.3766G>T (p.Ala1256Ser)	AHDC1 (A1256S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311190	NM_001371928.1(AHDC1):c.3714G>C (p.Lys1238Asn)	AHDC1 (K1238N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365791	NM_001371928.1(AHDC1):c.3667G>A (p.Val1223Ile)	AHDC1 (V1223I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700771	NM_001371928.1(AHDC1):c.3643C>T (p.Pro1215Ser)	AHDC1 (P1215S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313881	NM_001371928.1(AHDC1):c.3635C>T (p.Ser1212Leu)	AHDC1 (S1212L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 599460	NM_001371928.1(AHDC1):c.3630G>T (p.Glu1210Asp)	AHDC1 (E1210D)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1704741	NM_001371928.1(AHDC1):c.3628G>A (p.Glu1210Lys)	AHDC1 (E1210K)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1220048	NM_001371928.1(AHDC1):c.3606G>A (p.Glu1202=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 711051	NM_001371928.1(AHDC1):c.3572G>A (p.Ser1191Asn)	AHDC1 (S1191N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1707094	NM_001371928.1(AHDC1):c.3505G>A (p.Asp1169Asn)	AHDC1 (D1169N)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +1 more	GUncertain significance
Select item 1311092	NM_001371928.1(AHDC1):c.3479C>T (p.Ser1160Leu)	AHDC1 (S1160L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 620243	NM_001371928.1(AHDC1):c.3466C>T (p.Gln1156Ter)	AHDC1 (Q1156*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1720719	NM_001371928.1(AHDC1):c.3464A>G (p.Gln1155Arg)	AHDC1 (Q1155R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372195	NM_001371928.1(AHDC1):c.3452A>G (p.Gln1151Arg)	AHDC1 (Q1151R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1243008	NM_001371928.1(AHDC1):c.3450G>A (p.Pro1150=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2662229	NM_001371928.1(AHDC1):c.3379C>G (p.Leu1127Val)	AHDC1 (L1127V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1300569	NM_001371928.1(AHDC1):c.3367G>A (p.Ala1123Thr)	AHDC1 (A1123T)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +1 more	GBenign/Likely benign
Select item 429816	NM_001371928.1(AHDC1):c.3315_3319del (p.Ser1106fs)	AHDC1 (S1106fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1189968	NM_001371928.1(AHDC1):c.3288C>T (p.Pro1096=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1182005	NM_001371928.1(AHDC1):c.3254CCT[8] (p.Ser1091dup)	AHDC1	Microsatellite (inframe_insertion)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +1 more	GBenign/Likely benign
Select item 1684104	NM_001371928.1(AHDC1):c.3254CCT[5] (p.Ser1090_Ser1091del)	AHDC1	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 774392	NM_001371928.1(AHDC1):c.3254CCT[6] (p.Ser1091del)	AHDC1 (S1091del)	Microsatellite (inframe_deletion)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2571715	NM_001371928.1(AHDC1):c.3269C>G (p.Ser1090Cys)	AHDC1 (S1090C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 769506	NM_001371928.1(AHDC1):c.3264C>T (p.Ser1088=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1205799	NM_001371928.1(AHDC1):c.3250G>A (p.Ala1084Thr)	AHDC1 (A1084T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 788759	NM_001371928.1(AHDC1):c.3234_3242del (p.Thr1079_Ala1081del)	AHDC1	Deletion (inframe_deletion)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +1 more	GBenign/Likely benign
Select item 711272	NM_001371928.1(AHDC1):c.3240T>C (p.Ser1080=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3252742	NM_001371928.1(AHDC1):c.3239C>T (p.Ser1080Phe)	AHDC1 (S1080F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 546264	NM_001371928.1(AHDC1):c.3204C>G (p.Tyr1068Ter)	AHDC1 (Y1068*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 817369	NM_001371928.1(AHDC1):c.3145_3146del (p.Ala1050fs)	AHDC1 (A1050fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 422633	NM_001371928.1(AHDC1):c.3109TTC[1] (p.Phe1038del)	AHDC1 (F1038del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2578188	NM_001371928.1(AHDC1):c.3111C>A (p.Phe1037Leu)	AHDC1 (F1037L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1170506	NM_001371928.1(AHDC1):c.3104CCT[1] (p.Ser1036del)	AHDC1 (S1036del)	Microsatellite (inframe_deletion)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +1 more	GBenign
Select item 1274634	NM_001371928.1(AHDC1):c.3063C>T (p.Ala1021=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 728844	NM_001371928.1(AHDC1):c.3054C>T (p.Ala1018=)	AHDC1	Single nucleotide variant (synonymous variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +1 more	GBenign/Likely benign
Select item 2505695	NM_001371928.1(AHDC1):c.2984G>T (p.Ser995Ile)	AHDC1 (S995I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 790808	NM_001371928.1(AHDC1):c.2976C>T (p.Cys992=)	AHDC1	Single nucleotide variant (synonymous variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +1 more	GBenign/Likely benign
Select item 1302385	NM_001371928.1(AHDC1):c.2957C>A (p.Pro986His)	AHDC1 (P986H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1237031	NM_001371928.1(AHDC1):c.2943C>T (p.Phe981=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1708785	NM_001371928.1(AHDC1):c.2917G>A (p.Gly973Ser)	AHDC1 (G973S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 280607	NM_001371928.1(AHDC1):c.2908C>T (p.Gln970Ter)	AHDC1 (Q970*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1704873	NM_001371928.1(AHDC1):c.2890G>C (p.Ala964Pro)	AHDC1 (A964P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1216497	NM_001371928.1(AHDC1):c.2885C>T (p.Pro962Leu)	AHDC1 (P962L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 451682	NM_001371928.1(AHDC1):c.2881del (p.His961fs)	AHDC1 (H961fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1313359	NM_001371928.1(AHDC1):c.2872C>A (p.Pro958Thr)	AHDC1 (P958T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2412915	NM_001371928.1(AHDC1):c.2862G>A (p.Met954Ile)	AHDC1 (M954I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442770	NM_001371928.1(AHDC1):c.2849_2850delinsGT (p.Pro950Arg)	AHDC1 (P950R)	Indel (missense variant)	not provided	GUncertain significance
Select item 710593	NM_001371928.1(AHDC1):c.2850G>A (p.Pro950=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 715868	NM_001371928.1(AHDC1):c.2827A>C (p.Thr943Pro)	AHDC1 (T943P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1167798	NM_001371928.1(AHDC1):c.2803G>A (p.Ala935Thr)	AHDC1 (A935T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1328597	NM_001371928.1(AHDC1):c.2779G>C (p.Ala927Pro)	AHDC1 (A927P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 496678	NM_001371928.1(AHDC1):c.2773C>T (p.Arg925Ter)	AHDC1 (R925*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3368406	NM_001371928.1(AHDC1):c.2762T>C (p.Phe921Ser)	AHDC1 (F921S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 429248	NM_001371928.1(AHDC1):c.2746del (p.Ser916fs)	AHDC1 (S916fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 771111	NM_001371928.1(AHDC1):c.2745G>A (p.Leu915=)	AHDC1	Single nucleotide variant (synonymous variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +1 more	GBenign/Likely benign
Select item 788285	NM_001371928.1(AHDC1):c.2726C>G (p.Pro909Arg)	AHDC1 (P909R)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +1 more	GBenign/Likely benign
Select item 1217439	NM_001371928.1(AHDC1):c.2709C>T (p.Ser903=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 280775	NM_001371928.1(AHDC1):c.2693dup (p.Ala899fs)	AHDC1 (A899fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 280482	NM_001371928.1(AHDC1):c.2691del (p.Val898fs)	AHDC1 (V898fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1810430	NM_001371928.1(AHDC1):c.2650G>C (p.Gly884Arg)	AHDC1 (G884R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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