ClinVar for Gene (Select 9618) - ClinVar

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Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2614649	NM_004295.4(TRAF4):c.677G>A (p.Gly226Asp)	TRAF4 (G226D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580348	GRCh37/hg19 17q11.1-11.2(chr17:25263507-27829791)x3	FAM222B, FLOT2 +41 more	Copy number gain	Developmental delay with or without intellectual impairment or behavioral abnormalities	GUncertain significance
Select item 2536019	NM_004295.4(TRAF4):c.944G>A (p.Gly315Asp)	TRAF4 (G315D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489071	NM_004295.4(TRAF4):c.383C>G (p.Ala128Gly)	TRAF4 (A128G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478456	NM_004295.4(TRAF4):c.439G>A (p.Asp147Asn)	TRAF4 (D147N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2427184	NC_000017.10:g.(?_26684694)_(29701173_?)dup	ABHD15, ADAP2 +54 more	Duplication	not provided	GUncertain significance
Select item 2425303	NC_000017.10:g.(?_26684694)_(27581367_?)dup	RAB34, RPL23A +29 more	Duplication	not provided	GUncertain significance
Select item 2405223	NM_004295.4(TRAF4):c.472G>A (p.Gly158Ser)	TRAF4 (G158S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380817	NM_004295.4(TRAF4):c.695G>A (p.Arg232Gln)	TRAF4 (R232Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369993	NM_004295.4(TRAF4):c.816G>C (p.Glu272Asp)	TRAF4 (E272D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350557	NM_004295.4(TRAF4):c.1347C>G (p.Asn449Lys)	TRAF4 (N449K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303800	NM_004295.4(TRAF4):c.142A>G (p.Ser48Gly)	LOC112529903, TRAF4 (S48G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291718	NM_004295.4(TRAF4):c.1337G>A (p.Arg446Gln)	TRAF4 (R446Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286043	NM_004295.4(TRAF4):c.368G>A (p.Arg123His)	TRAF4 (R123H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244172	NM_004295.4(TRAF4):c.188A>G (p.Tyr63Cys)	TRAF4 (Y63C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242313	NM_004295.4(TRAF4):c.1186C>T (p.Pro396Ser)	TRAF4 (P396S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1526572	GRCh37/hg19 17p11.2-q11.2(chr17:21690653-28281232)	ABHD15, ALDOC +49 more	Copy number gain	not specified	GPathogenic
Select item 815920	GRCh37/hg19 17q11.1-11.2(chr17:25274363-28450707)x3	ABHD15, ALDOC +49 more	Copy number gain	not provided	GPathogenic
Select item 712647	NM_004295.4(TRAF4):c.517G>A (p.Ala173Thr)	TRAF4 (A173T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 624545	GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3	ABHD15, ADAP2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 523166	GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1	LYRM9, MIR144 +72 more	Copy number loss	Mitogen-activated protein kinase kinase inhibitor response	Gdrug response
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 147274	GRCh38/hg38 17q11.2(chr17:28283125-28904397)x3	LOC129390846, LOC130060540 +88 more	Copy number gain	See cases	GBenign

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Links from Gene

Items: 25