ClinVar for Gene (Select 9015) - ClinVar

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Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3324209	NM_005681.4(TAF1A):c.602T>C (p.Leu201Pro)	TAF1A (L201P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173407	NM_005681.4(TAF1A):c.833A>G (p.Tyr278Cys)	TAF1A (Y164C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173406	NM_005681.4(TAF1A):c.586A>G (p.Met196Val)	TAF1A (M196V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173405	NM_005681.4(TAF1A):c.348G>C (p.Glu116Asp)	TAF1A (E116D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148877	GRCh37/hg19 1q41-42.12(chr1:216147522-226765691)x1	ACBD3, AIDA +53 more	Copy number loss	not provided	GPathogenic
Select item 3062480	GRCh37/hg19 1q41(chr1:222698623-224065782)x3	AIDA, BROX +11 more	Copy number gain	not specified	GUncertain significance
Select item 2690218	NM_005681.4(TAF1A):c.967GAA[1] (p.Glu324del)	TAF1A (E210del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2685843	GRCh37/hg19 1q41-42.11(chr1:222641390-224104993)x1	AIDA, BROX +11 more	Copy number loss	not provided	GUncertain significance
Select item 2604981	NM_005681.4(TAF1A):c.203A>T (p.His68Leu)	TAF1A (H68L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597514	NM_005681.4(TAF1A):c.1097C>T (p.Ala366Val)	TAF1A (A366V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2552918	NM_005681.4(TAF1A):c.85C>G (p.His29Asp)	TAF1A (H29D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493342	NM_005681.4(TAF1A):c.838T>C (p.Tyr280His)	TAF1A (Y166H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481520	NM_005681.4(TAF1A):c.1193C>T (p.Ala398Val)	TAF1A (A284V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349327	NM_005681.4(TAF1A):c.515G>A (p.Arg172Gln)	TAF1A (R58Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2344440	NM_005681.4(TAF1A):c.1310A>G (p.Lys437Arg)	TAF1A (K323R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335138	NM_005681.4(TAF1A):c.165T>A (p.Ser55Arg)	TAF1A (S55R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334906	NM_005681.4(TAF1A):c.167C>T (p.Ala56Val)	TAF1A (A56V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301970	NM_005681.4(TAF1A):c.566A>T (p.Tyr189Phe)	TAF1A (Y189F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298745	NM_005681.4(TAF1A):c.185A>G (p.Gln62Arg)	TAF1A (Q62R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279081	NM_005681.4(TAF1A):c.280G>A (p.Ala94Thr)	TAF1A (A94T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265892	NM_005681.4(TAF1A):c.605A>T (p.Asp202Val)	TAF1A (D202V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220698	NM_005681.4(TAF1A):c.231G>A (p.Met77Ile)	TAF1A (M77I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 1809014	GRCh37/hg19 1q41-42.12(chr1:221325488-225804228)x1	AIDA, BROX +21 more	Copy number loss	not provided	GUncertain significance
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1706560	NM_005681.4(TAF1A):c.781A>C (p.Thr261Pro)	TAF1A (T147P +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial restrictive, 6	GUncertain significance
Select item 1527570	GRCh37/hg19 1q41(chr1:222153928-223209242)	AIDA, BROX +5 more	Copy number loss	not specified	GUncertain significance
Select item 1527559	GRCh37/hg19 1q41-42.13(chr1:221303919-227461343)	ACBD3, AIDA +38 more	Copy number gain	not specified	GPathogenic
Select item 1232300	NM_005681.4(TAF1A):c.1021G>A (p.Gly341Arg)	TAF1A (G227R +1 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 1199386	Single allele	IARS2, BROX +27 more	Deletion	Loeys-Dietz syndrome 4	GPathogenic
Select item 1182797	NM_005681.4(TAF1A):c.1085+17G>A	TAF1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 979934	GRCh37/hg19 1q41-42.12(chr1:222605125-224696628)x1	TLR5, DEGS1 +16 more	Copy number loss	not provided	GPathogenic
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 814166	GRCh37/hg19 1q41-42.13(chr1:222641389-228137574)x1	PSEN2, FBXO28 +42 more	Copy number loss	not provided	GPathogenic
Select item 814163	GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3	CCDC185, NTPCR +127 more	Copy number gain	not provided	GPathogenic
Select item 814162	GRCh37/hg19 1q41-42.11(chr1:219734913-224104993)x1	BROX, HHIPL2 +24 more	Copy number loss	not provided	GPathogenic
Select item 787580	NM_005681.4(TAF1A):c.1304G>A (p.Arg435Gln)	TAF1A (R321Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 785952	NM_005681.4(TAF1A):c.294T>G (p.Ile98Met)	TAF1A (I98M)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 565225	GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	H2BC26, H3-3A +213 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 438260	Single allele	BPNT1, C1orf115 +146 more	Deletion	Usher syndrome	GLikely pathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 148650	GRCh38/hg38 1q41(chr1:221979950-223007060)x3	AIDA, BROX +34 more	Copy number gain	See cases	GUncertain significance
Select item 146516	GRCh38/hg38 1q41(chr1:220673535-223683512)x1	AIDA, BROX +84 more	Copy number loss	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 55