ClinVar for Gene (Select 151647) - ClinVar

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Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3324307	NM_182522.5(TAFA4):c.326C>T (p.Pro109Leu)	TAFA4 (P109L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324306	NM_182522.5(TAFA4):c.197G>T (p.Arg66Leu)	TAFA4 (R66L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324305	NM_182522.5(TAFA4):c.416C>T (p.Thr139Met)	TAFA4 (T139M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324304	NM_182522.5(TAFA4):c.208C>T (p.Arg70Trp)	TAFA4 (R70W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173633	NM_182522.5(TAFA4):c.97T>A (p.Ser33Thr)	TAFA4 (S33T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173632	NM_182522.5(TAFA4):c.401A>G (p.Lys134Arg)	TAFA4 (K134R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173631	NM_182522.5(TAFA4):c.312G>C (p.Trp104Cys)	TAFA4 (W104C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173630	NM_182522.5(TAFA4):c.262C>T (p.Arg88Trp)	TAFA4 (R88W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173629	NM_182522.5(TAFA4):c.241G>A (p.Gly81Arg)	TAFA4 (G81R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173628	NM_182522.5(TAFA4):c.239C>T (p.Pro80Leu)	TAFA4 (P80L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173627	NM_182522.5(TAFA4):c.238C>G (p.Pro80Ala)	TAFA4 (P80A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173625	NM_182522.5(TAFA4):c.22G>A (p.Val8Ile)	TAFA4 (V8I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173624	NM_182522.5(TAFA4):c.197G>A (p.Arg66His)	TAFA4 (R66H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173623	NM_182522.5(TAFA4):c.190A>G (p.Lys64Glu)	TAFA4 (K64E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173622	NM_182522.5(TAFA4):c.158G>A (p.Cys53Tyr)	TAFA4 (C53Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173621	NM_182522.5(TAFA4):c.125A>T (p.His42Leu)	TAFA4 (H42L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173620	NM_182522.5(TAFA4):c.124C>T (p.His42Tyr)	TAFA4 (H42Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062713	GRCh37/hg19 3p14.2-13(chr3:62188399-71663248)x1	ADAMTS9, ARL6IP5 +24 more	Copy number loss	not specified	GPathogenic
Select item 2685084	GRCh37/hg19 3p14.1(chr3:67611981-69023348)x1	SUCLG2, TAFA1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2595788	NM_182522.5(TAFA4):c.209G>A (p.Arg70Gln)	TAFA4 (R70Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593108	NM_182522.5(TAFA4):c.70G>A (p.Val24Met)	TAFA4 (V24M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590190	NM_182522.5(TAFA4):c.419G>A (p.Arg140Gln)	TAFA4 (R140Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509844	NM_182522.5(TAFA4):c.163G>T (p.Val55Leu)	TAFA4 (V55L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527022	GRCh37/hg19 3p14.1(chr3:67612239-69023348)x1	SUCLG2, TAFA4 +1 more	Copy number loss	not specified	GUncertain significance
Select item 1341307	GRCh37/hg19 3p14.2-13(chr3:59332508-70686155)x1	ADAMTS9, ARL6IP5 +24 more	Copy number loss	not provided	GPathogenic
Select item 1340927	GRCh37/hg19 3p14.1-13(chr3:68968872-70829637)x3	ARL6IP5, EOGT +6 more	Copy number gain	not provided	GUncertain significance
Select item 1328452	GRCh37/hg19 3p14.1(chr3:67610844-69023278)x1	SUCLG2, TAFA1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1064533	Single allele	EIF4E3, EOGT +12 more	Deletion	See cases	GPathogenic
Select item 719249	NM_182522.5(TAFA4):c.417G>A (p.Thr139=)	TAFA4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 685612	GRCh37/hg19 3p14.1(chr3:68831471-69535890)x3	ARL6IP5, EOGT +5 more	Copy number gain	not provided	GUncertain significance
Select item 585228	GRCh37/hg19 3p14.1(chr3:68461188-69158250)x1	ARL6IP5, EOGT +5 more	Copy number loss	not provided	Gnot provided
Select item 562781	GRCh37/hg19 3p14.1-12.3(chr3:66133719-75076440)x1	ARL6IP5, CNTN3 +22 more	Copy number loss	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253769	GRCh37/hg19 3p14.1(chr3:67617261-68950039)x1	TAFA1, SUCLG2 +1 more	Copy number loss	See cases	GUncertain significance
Select item 155469	GRCh38/hg38 3p14.1(chr3:67561815-68974197)x1	LOC105377146, LOC108167314 +7 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 151504	GRCh38/hg38 3p14.1-12.3(chr3:68328980-76764319)x3	ARL6IP5, CNTN3 +175 more	Copy number gain	See cases	GLikely pathogenic
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	HTD2, HTR1F +482 more	Copy number loss	See cases	GPathogenic
Select item 149610	GRCh38/hg38 3p14.1(chr3:67822085-68916513)x3	LOC105377146, LOC108167314 +3 more	Copy number gain	See cases	GUncertain significance
Select item 146408	GRCh38/hg38 3p14.1(chr3:67566837-68960045)x1	LOC105377146, LOC108167314 +7 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 146339	GRCh38/hg38 3p14.1(chr3:67594927-68911377)x1	LOC105377146, LOC108167314 +7 more	Copy number loss	See cases	GUncertain significance
Select item 144339	GRCh38/hg38 3p14.1-13(chr3:67391006-73414001)x1	ARL6IP5, EBLN2 +142 more	Copy number loss	See cases	GPathogenic
Select item 57772	GRCh38/hg38 3p14.1-12.3(chr3:64761248-78410098)x1	ADAMTS9-AS2, ARL6IP5 +234 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 43