ClinVar for Gene (Select 7126) - ClinVar

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Links from Gene

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3327452	NM_021137.5(TNFAIP1):c.633G>T (p.Trp211Cys)	TNFAIP1 (W211C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327451	NM_021137.5(TNFAIP1):c.421A>T (p.Thr141Ser)	TNFAIP1 (T141S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327450	NM_021137.5(TNFAIP1):c.607G>A (p.Val203Ile)	TNFAIP1 (V203I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180158	NM_021137.5(TNFAIP1):c.872G>A (p.Arg291His)	TNFAIP1 (R291H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180157	NM_021137.5(TNFAIP1):c.871C>T (p.Arg291Cys)	TNFAIP1 (R291C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180156	NM_021137.5(TNFAIP1):c.854C>A (p.Thr285Asn)	TNFAIP1 (T285N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180155	NM_021137.5(TNFAIP1):c.535C>G (p.Leu179Val)	TNFAIP1 (L179V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180154	NM_021137.5(TNFAIP1):c.278C>A (p.Thr93Asn)	TNFAIP1 (T93N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024741	NM_021137.5(TNFAIP1):c.618C>T (p.Asp206=)	TNFAIP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2520885	NM_021137.5(TNFAIP1):c.854C>T (p.Thr285Ile)	TNFAIP1 (T285I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517746	NM_021137.5(TNFAIP1):c.781G>A (p.Val261Ile)	TNFAIP1 (V261I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454338	NM_021137.5(TNFAIP1):c.143G>A (p.Arg48His)	TNFAIP1 (R48H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330366	NM_021137.5(TNFAIP1):c.946G>A (p.Asp316Asn)	TNFAIP1 (D316N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319887	NM_021137.5(TNFAIP1):c.71G>T (p.Gly24Val)	TNFAIP1 (G24V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315319	NM_021137.5(TNFAIP1):c.76G>C (p.Gly26Arg)	TNFAIP1 (G26R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312232	NM_021137.5(TNFAIP1):c.880C>T (p.Arg294Cys)	TNFAIP1 (R294C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238291	NM_021137.5(TNFAIP1):c.118T>C (p.Tyr40His)	TNFAIP1 (Y40H)	Single nucleotide variant (missense variant)	not specified	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 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	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 147274	GRCh38/hg38 17q11.2(chr17:28283125-28904397)x3	ALDOC, BLTP2 +88 more	Copy number gain	See cases	GBenign

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Links from Gene

Items: 26