ClinVar for Gene (Select 101929319) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3327461	NM_007115.4(TNFAIP6):c.559G>A (p.Gly187Ser)	LOC101929319, TNFAIP6 (G187S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180184	NM_007115.4(TNFAIP6):c.634G>A (p.Asp212Asn)	LOC101929319, TNFAIP6 (D212N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180183	NM_007115.4(TNFAIP6):c.515G>A (p.Arg172His)	LOC101929319, TNFAIP6 (R172H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3180182	NM_007115.4(TNFAIP6):c.412G>A (p.Val138Ile)	LOC101929319, TNFAIP6 (V138I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180181	NM_007115.4(TNFAIP6):c.402G>C (p.Glu134Asp)	LOC101929319, TNFAIP6 (E134D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180179	NM_007115.4(TNFAIP6):c.193C>G (p.Leu65Val)	LOC101929319, TNFAIP6 (L65V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180178	NM_007115.4(TNFAIP6):c.144G>T (p.Lys48Asn)	LOC101929319, TNFAIP6 (K48N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180177	NM_007115.4(TNFAIP6):c.124G>C (p.Ala42Pro)	LOC101929319, TNFAIP6 (A42P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623671	NM_007115.4(TNFAIP6):c.269G>A (p.Gly90Asp)	LOC101929319, TNFAIP6 (G90D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534099	NM_007115.4(TNFAIP6):c.98G>T (p.Arg33Leu)	LOC101929319, TNFAIP6 (R33L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474025	NM_007115.4(TNFAIP6):c.128G>T (p.Arg43Leu)	LOC101929319, TNFAIP6 (R43L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299812	NM_007115.4(TNFAIP6):c.505T>C (p.Tyr169His)	LOC101929319, TNFAIP6 (Y169H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212869	NM_007115.4(TNFAIP6):c.31C>G (p.Leu11Val)	LOC101929319, TNFAIP6 (L11V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 154515	GRCh38/hg38 2q22.3-24.1(chr2:146324191-156219125)x3	ACVR2A, ARL5A +146 more	Copy number gain	See cases	GPathogenic
Select item 146076	GRCh38/hg38 2q22.3-24.1(chr2:143900149-158321624)x3	ACVR1, ACVR1C +238 more	Copy number gain	See cases	GPathogenic
Select item 60219	GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)x1	ACVR1, ACVR1C +333 more	Copy number loss	See cases	GPathogenic
Select item 60217	GRCh38/hg38 2q22.3-23.3(chr2:147590324-153496674)x1	ACVR2A, ARL5A +119 more	Copy number loss	See cases	GPathogenic
Select item 60216	GRCh38/hg38 2q22.3-24.1(chr2:147251948-157856378)x1	ACVR1, ACVR1C +189 more	Copy number loss	See cases	GPathogenic