ClinVar for MedGen (Select 895979) - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068329	NM_004606.5(TAF1):c.2644T>A (p.Ser882Thr)	TAF1 (S861T +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked, syndromic 33	GUncertain significance
Select item 2692327	NM_004606.5(TAF1):c.2551G>A (p.Ala851Thr)	TAF1 (A830T +1 more)	Single nucleotide variant (missense variant +1 more)	X-linked dystonia-parkinsonism +1 more	GUncertain significance
Select item 2664704	NM_004606.5(TAF1):c.1291C>T (p.Arg431Cys)	TAF1 (R410C +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked, syndromic 33	GUncertain significance
Select item 2637965	NM_004606.5(TAF1):c.5036G>A (p.Ser1679Asn)	TAF1 (S1658N +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 2585493	NM_004606.5(TAF1):c.1436G>A (p.Gly479Glu)	TAF1 (G458E +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked, syndromic 33	GUncertain significance
Select item 2506487	NM_004606.5(TAF1):c.2414G>A (p.Arg805Gln)	TAF1 (R784Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Intellectual disability, X-linked, syndromic 33	GLikely pathogenic
Select item 2505876	NM_004606.5(TAF1):c.4315C>G (p.Leu1439Val)	TAF1 (L1418V +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked, syndromic 33 +1 more	GUncertain significance
Select item 2504010	NM_004606.5(TAF1):c.3407-1G>A	TAF1	Single nucleotide variant (splice acceptor variant)	Intellectual disability, X-linked, syndromic 33	GLikely pathogenic
Select item 2500214	NM_004606.5(TAF1):c.5128G>T (p.Ala1710Ser)	TAF1 (A1689S +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked, syndromic 33	GUncertain significance
Select item 2441865	NM_004606.5(TAF1):c.4576-9A>G	TAF1	Single nucleotide variant (intron variant)	Intellectual disability, X-linked, syndromic 33 +1 more	GConflicting classifications of pathogenicity
Select item 2441649	NM_004606.5(TAF1):c.1632G>T (p.Gly544=)	TAF1	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, X-linked, syndromic 33 +1 more	GUncertain significance
Select item 1878614	NM_004606.5(TAF1):c.448A>G (p.Lys150Glu)	TAF1 (K150E)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked, syndromic 33 +1 more	GUncertain significance
Select item 1710151	NM_004606.5(TAF1):c.745G>A (p.Gly249Arg)	TAF1 (G228R +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked, syndromic 33	GUncertain significance
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 1699337	NM_004606.5(TAF1):c.4108-5C>T	TAF1	Single nucleotide variant (intron variant)	Intellectual disability, X-linked, syndromic 33	GUncertain significance
Select item 1679250	NM_004606.5(TAF1):c.2475G>C (p.Arg825Ser)	TAF1 (R804S +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked, syndromic 33	GUncertain significance
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 1334495	NM_004606.5(TAF1):c.4286A>C (p.Gln1429Pro)	TAF1 (Q1408P +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked, syndromic 33	GLikely pathogenic
Select item 1333923	NM_004606.5(TAF1):c.2806A>G (p.Thr936Ala)	TAF1 (T915A +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked, syndromic 33	GUncertain significance
Select item 1333844	NM_004606.5(TAF1):c.1417A>G (p.Asn473Asp)	TAF1 (N452D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Intellectual disability, X-linked, syndromic 33 +1 more	GUncertain significance
Select item 1301994	NM_004606.5(TAF1):c.4748A>G (p.Tyr1583Cys)	TAF1 (Y1562C +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked, syndromic 33	GLikely pathogenic
Select item 1300517	NM_004606.5(TAF1):c.2119C>T (p.Arg707Trp)	TAF1 (R686W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1251932	NM_004606.5(TAF1):c.2498_2500del (p.Lys833_Ala834delinsThr)	TAF1	Deletion (inframe_indel +1 more)	Intellectual disability, X-linked, syndromic 33	GUncertain significance
Select item 1184816	NM_004606.5(TAF1):c.1A>T (p.Met1Leu)	TAF1 (M1L)	Single nucleotide variant (non-coding transcript variant +2 more)	Intellectual disability, X-linked, syndromic 33 +1 more	GLikely pathogenic; association
Select item 1038609	NM_004606.5(TAF1):c.2617A>G (p.Thr873Ala)	TAF1 (T852A +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked, syndromic 33 +1 more	GUncertain significance
Select item 1028279	NM_004606.5(TAF1):c.4821+3A>G	TAF1	Single nucleotide variant (intron variant)	Intellectual disability, X-linked, syndromic 33 +1 more	GUncertain significance
Select item 1028278	NM_004606.5(TAF1):c.4452+3A>G	TAF1	Single nucleotide variant (intron variant)	Intellectual disability, X-linked, syndromic 33	GUncertain significance
Select item 1028277	NM_004606.5(TAF1):c.290C>T (p.Ala97Val)	TAF1 (A97V)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked, syndromic 33	GUncertain significance
Select item 1028276	NM_004606.5(TAF1):c.2120G>A (p.Arg707Gln)	TAF1 (R686Q +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked, syndromic 33	GLikely pathogenic
Select item 995989	NM_004606.5(TAF1):c.2530C>T (p.Arg844Trp)	TAF1 (R823W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 992412	NM_004606.5(TAF1):c.352+7C>T	TAF1	Single nucleotide variant (intron variant)	Intellectual disability, X-linked, syndromic 33	GUncertain significance
Select item 985730	NM_004606.5(TAF1):c.1207T>G (p.Phe403Val)	TAF1 (F382V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 976790	NM_004606.5(TAF1):c.2700+5A>G	TAF1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 931733	NM_004606.5(TAF1):c.2257A>G (p.Ile753Val)	TAF1 (I732V +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked, syndromic 33 +1 more	GUncertain significance
Select item 930914	NM_004606.5(TAF1):c.5596G>A (p.Asp1866Asn)	TAF1 (D1866N +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, syndromic 33	GUncertain significance
Select item 930604	NM_004606.5(TAF1):c.5338_5339insGTAATCGATAGCAACATCAG (p.Met1780delinsSerAsnArgTer)	TAF1	Insertion (nonsense +1 more)	Intellectual disability, X-linked, syndromic 33	GUncertain significance
Select item 700214	NM_004606.5(TAF1):c.4155G>A (p.Thr1385=)	TAF1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 698491	NM_004606.5(TAF1):c.4521G>A (p.Ala1507=)	TAF1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 697120	NM_004606.5(TAF1):c.422C>T (p.Pro141Leu)	TAF1 (P141L)	Single nucleotide variant (missense variant +1 more)	X-linked dystonia-parkinsonism +2 more	GBenign/Likely benign
Select item 696096	NM_004606.5(TAF1):c.4708C>T (p.Leu1570=)	TAF1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 695775	NM_004606.5(TAF1):c.4698G>A (p.Arg1566=)	TAF1	Single nucleotide variant (synonymous variant +1 more)	X-linked dystonia-parkinsonism +3 more	GBenign/Likely benign
Select item 695493	NM_004606.5(TAF1):c.4754-4A>G	TAF1	Single nucleotide variant (intron variant)	X-linked dystonia-parkinsonism +2 more	GLikely benign
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)	Intellectual disability, X-linked, syndromic 33	GLikely 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 638058	NM_004606.5(TAF1):c.421C>G (p.Pro141Ala)	TAF1 (P161A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 635062	NM_004606.5(TAF1):c.2771T>C (p.Ile924Thr)	TAF1 (I924T +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked, syndromic 33	GUncertain significance
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 545434	NM_004606.5(TAF1):c.4226C>T (p.Pro1409Leu)	TAF1 (P1388L +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked, syndromic 33	GLikely pathogenic
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 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 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 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 390638	NM_004606.5(TAF1):c.428C>T (p.Pro143Leu)	TAF1 (P143L)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked, syndromic 33 +1 more	GPathogenic/Likely 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 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)	not provided +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

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Items: 80