ClinVar (all) for Orgtrack (Select 507084) - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1701030	NM_013275.6(ANKRD11):c.4489_4490del (p.Arg1497fs)	ANKRD11 (R1497fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1701029	NM_013275.6(ANKRD11):c.2177_2178del (p.Lys726fs)	ANKRD11 (K726fs)	Deletion (frameshift variant)	KBG syndrome	GPathogenic
Select item 1701028	NM_013275.6(ANKRD11):c.1893del (p.Lys631fs)	ANKRD11 (K631fs)	Deletion (frameshift variant)	KBG syndrome	GPathogenic
Select item 1701027	NM_013275.6(ANKRD11):c.5659C>T (p.Gln1887Ter)	ANKRD11 (Q1887*)	Single nucleotide variant (nonsense)	KBG syndrome	GPathogenic
Select item 1701026	NM_013275.6(ANKRD11):c.6596_6597insA (p.Ala2201fs)	ANKRD11 (A2201fs)	Insertion (frameshift variant)	KBG syndrome	GPathogenic
Select item 1701025	NM_013275.6(ANKRD11):c.2273dup (p.Arg759fs)	ANKRD11 (R759fs)	Duplication (frameshift variant)	KBG syndrome	GPathogenic
Select item 1701024	NM_013275.6(ANKRD11):c.1756G>A (p.Val586Met)	ANKRD11 (V586M)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 1701023	NM_013275.6(ANKRD11):c.1018dup (p.Thr340fs)	ANKRD11 (T340fs)	Duplication (frameshift variant)	KBG syndrome	GLikely pathogenic
Select item 1700566	NM_004606.5(TAF1):c.3648A>G (p.Gln1216=)	TAF1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1344726	NM_004606.5(TAF1):c.4295G>A (p.Arg1432His)	TAF1 (R1411H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 1344721	NM_004606.5(TAF1):c.1454T>A (p.Ile485Asn)	TAF1 (I464N +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked, syndromic 33	GPathogenic
Select item 1300169	NM_006345.4(SLC30A9):c.86_87dup (p.Cys30fs)	SLC30A9 (C30fs)	Duplication (frameshift variant)	Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome	GLikely pathogenic
Select item 1300159	NM_006345.4(SLC30A9):c.40del (p.Ser14fs)	SLC30A9 (S14fs)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1254536	NM_013275.6(ANKRD11):c.5227C>T (p.Gln1743Ter)	ANKRD11 (Q1743*)	Single nucleotide variant (nonsense)	KBG syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1012410	NM_013275.6(ANKRD11):c.7607G>A (p.Arg2536Gln)	ANKRD11 (R2536Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 987422	NM_013275.6(ANKRD11):c.2329_2332del (p.Glu777fs)	ANKRD11 (E777fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 984867	NM_013275.6(ANKRD11):c.7789A>T (p.Lys2597Ter)	ANKRD11 (K2597*)	Single nucleotide variant (nonsense)	KBG syndrome	GLikely pathogenic
Select item 959511	NM_013275.6(ANKRD11):c.5233_5234del (p.Ser1745fs)	ANKRD11 (S1745fs)	Deletion (frameshift variant)	KBG syndrome	GPathogenic
Select item 694259	NM_004606.5(TAF1):c.5599A>T (p.Ser1867Cys)	TAF1 (S1887C +3 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, syndromic 33	GLikely benign
Select item 694258	NM_004606.5(TAF1):c.5304G>C (p.Glu1768Asp)	TAF1 (E1788D +3 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked, syndromic 33	GLikely benign
Select item 694257	NM_004606.5(TAF1):c.2305A>G (p.Arg769Gly)	TAF1 (R789G +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked, syndromic 33	GLikely benign
Select item 694256	NM_004606.5(TAF1):c.1765A>G (p.Ile589Val)	TAF1 (I609V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 694255	NM_004606.5(TAF1):c.1188TCT[1] (p.Leu398del)	TAF1 (L377del +1 more)	Microsatellite (inframe_deletion +1 more)	Intellectual disability, X-linked, syndromic 33	GLikely benign
Select item 694254	NM_004606.5(TAF1):c.4666A>G (p.Lys1556Glu)	TAF1 (K1576E +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked, syndromic 33	GUncertain significance
Select item 694253	NM_004606.5(TAF1):c.4520C>T (p.Ala1507Val)	TAF1 (A1527V +2 more)	Single nucleotide variant (missense variant +1 more)	TAF1-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 694252	NM_004606.5(TAF1):c.4382A>G (p.Asn1461Ser)	TAF1 (N1481S +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked, syndromic 33	GUncertain significance
Select item 694251	NM_004606.5(TAF1):c.4382A>T (p.Asn1461Ile)	TAF1 (N1481I +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked, syndromic 33 +1 more	GLikely pathogenic; association
Select item 694250	NM_004606.5(TAF1):c.4130G>A (p.Arg1377Gln)	TAF1 (R1397Q +2 more)	Single nucleotide variant (missense variant +1 more)	Heart, malformation of +1 more	GUncertain significance; association
Select item 694249	NM_004606.5(TAF1):c.3992T>A (p.Ile1331Asn)	TAF1 (I1351N +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked, syndromic 33	GUncertain significance
Select item 694248	NM_004606.5(TAF1):c.3700C>T (p.Arg1234Trp)	TAF1 (R1254W +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked, syndromic 33	GLikely pathogenic
Select item 694247	NM_004606.5(TAF1):c.2975C>T (p.Thr992Ile)	TAF1 (T1012I +2 more)	Single nucleotide variant (missense variant +1 more)	Heart, malformation of +1 more	GLikely pathogenic; association
Select item 694246	NM_004606.5(TAF1):c.2608C>T (p.Arg870Cys)	TAF1 (R890C +2 more)	Single nucleotide variant (missense variant +1 more)	TAF1-related syndromic intellectual disability	GLikely pathogenic
Select item 694245	NM_004606.5(TAF1):c.2557T>G (p.Phe853Val)	TAF1 (F873V +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked, syndromic 33	GUncertain significance
Select item 694244	NM_004606.5(TAF1):c.2120G>C (p.Arg707Pro)	TAF1 (R727P +2 more)	Single nucleotide variant (missense variant +1 more)	Heart, malformation of +1 more	GUncertain significance; association
Select item 694243	NM_004606.5(TAF1):c.1979G>A (p.Gly660Asp)	TAF1 (G680D +2 more)	Single nucleotide variant (missense variant +1 more)	Heart, malformation of +1 more	GLikely pathogenic; association
Select item 694242	NM_004606.5(TAF1):c.1520A>G (p.Asp507Gly)	TAF1 (D527G +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked, syndromic 33	GLikely pathogenic
Select item 694241	NM_004606.5(TAF1):c.892G>A (p.Ala298Thr)	TAF1 (A318T +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked, syndromic 33	GUncertain significance
Select item 694240	NM_004606.5(TAF1):c.802C>T (p.Arg268Cys)	TAF1 (R288C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 694239	NM_004606.5(TAF1):c.553A>G (p.Ser185Gly)	TAF1 (S205G +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked, syndromic 33	GUncertain significance
Select item 689675	NM_004606.5(TAF1):c.4489A>C (p.Asn1497His)	TAF1 (N1476H +1 more)	Single nucleotide variant (missense variant +1 more)	Marfanoid habitus and intellectual disability +1 more	GPathogenic/Likely pathogenic
Select item 638191	NM_018052.5(VAC14):c.2005G>T (p.Val669Leu)	VAC14 (V669L +1 more)	Single nucleotide variant (missense variant)	Striatonigral degeneration, childhood-onset +2 more	GConflicting classifications of pathogenicity
Select item 599303	NM_004606.5(TAF1):c.3508C>T (p.Arg1170Cys)	TAF1 (R1190C +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked, syndromic 33	GPathogenic
Select item 547949	NM_013275.6(ANKRD11):c.2404_2407del (p.Leu802fs)	ANKRD11 (L802fs)	Deletion (frameshift variant)	KBG syndrome +1 more	GPathogenic
Select item 520950	NM_004606.5(TAF1):c.2773G>A (p.Asp925Asn)	TAF1 (D945N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 489328	NM_013275.6(ANKRD11):c.1977C>G (p.Tyr659Ter)	ANKRD11 (Y659*)	Single nucleotide variant (nonsense)	KBG syndrome +1 more	GPathogenic/Likely pathogenic
Select item 430463	NM_004606.5(TAF1):c.3973G>A (p.Val1325Ile)	TAF1 (V1345I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 429712	NM_013275.6(ANKRD11):c.7354C>G (p.Arg2452Gly)	ANKRD11 (R2452G)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 426843	NM_013275.6(ANKRD11):c.2409_2412del (p.Glu805fs)	ANKRD11 (E805fs)	Deletion (frameshift variant)	KBG syndrome +1 more	GPathogenic/Likely pathogenic
Select item 424150	NM_004606.5(TAF1):c.1237G>A (p.Asp413Asn)	TAF1 (D433N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 420179	NM_013275.6(ANKRD11):c.3224_3227del (p.Glu1075fs)	ANKRD11 (E1075fs)	Microsatellite (frameshift variant)	KBG syndrome +1 more	GPathogenic
Select item 419442	NM_004606.5(TAF1):c.4394A>G (p.His1465Arg)	TAF1 (H1485R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 372844	NM_004606.5(TAF1):c.2894C>T (p.Ser965Phe)	TAF1 (S985F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 265689	NM_013275.6(ANKRD11):c.2175_2178del (p.Asn725fs)	ANKRD11 (N725fs)	Microsatellite (frameshift variant)	KBG syndrome +1 more	GPathogenic/Likely pathogenic
Select item 265324	NM_013275.6(ANKRD11):c.3770_3771del (p.Lys1257fs)	ANKRD11 (K1257fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 219118	NM_004606.5(TAF1):c.2866G>C (p.Asp956His)	TAF1 (D935H +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked, syndromic 33	GPathogenic
Select item 219117	NM_004606.5(TAF1):c.1726C>T (p.Pro576Ser)	TAF1 (P555S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 219116	NM_004606.5(TAF1):c.3676C>T (p.Arg1226Trp)	TAF1 (R1205W +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked, syndromic 33 +1 more	GConflicting classifications of pathogenicity
Select item 219115	NM_004606.5(TAF1):c.2359T>C (p.Cys787Arg)	TAF1 (C766R +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked, syndromic 33	GLikely pathogenic
Select item 219114	NM_004606.5(TAF1):c.3950T>C (p.Ile1317Thr)	TAF1 (I1296T +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked, syndromic 33	GPathogenic
Select item 214652	NM_014874.4(MFN2):c.314C>T (p.Thr105Met)	MFN2 (T105M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +3 more	GPathogenic/Likely pathogenic
Select item 208786	NM_001378452.1(ITPR1):c.800C>T (p.Thr267Met)	ITPR1 (T267M)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 29 +3 more	GPathogenic
Select item 208708	NM_013275.6(ANKRD11):c.7825C>T (p.Gln2609Ter)	ANKRD11 (Q2609*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic

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Items: 62