ClinVar for Gene (Select 130006418) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3328257	NM_001195528.2(TPBGL):c.668G>A (p.Gly223Asp)	LOC130006418, TPBGL (G223D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328253	NM_001195528.2(TPBGL):c.842C>T (p.Ala281Val)	LOC130006418, TPBGL (A281V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181481	NM_001195528.2(TPBGL):c.714C>G (p.Cys238Trp)	LOC130006418, TPBGL (C238W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181480	NM_001195528.2(TPBGL):c.694G>A (p.Ala232Thr)	LOC130006418, TPBGL (A232T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181479	NM_001195528.2(TPBGL):c.674C>G (p.Pro225Arg)	LOC130006418, TPBGL (P225R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181478	NM_001195528.2(TPBGL):c.667G>C (p.Gly223Arg)	LOC130006418, TPBGL (G223R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181477	NM_001195528.2(TPBGL):c.658C>G (p.Arg220Gly)	LOC130006418, TPBGL (R220G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551055	NM_001195528.2(TPBGL):c.831C>G (p.Asp277Glu)	LOC130006418, TPBGL (D277E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476105	NM_001195528.2(TPBGL):c.859G>C (p.Asp287His)	LOC130006418, TPBGL (D287H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403030	NM_001195528.2(TPBGL):c.845G>T (p.Arg282Leu)	LOC130006418, TPBGL (R282L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393940	NM_001195528.2(TPBGL):c.862A>G (p.Ser288Gly)	LOC130006418, TPBGL (S288G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2308195	NM_001195528.2(TPBGL):c.821C>A (p.Pro274Gln)	LOC130006418, TPBGL (P274Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254299	NM_001195528.2(TPBGL):c.838G>A (p.Gly280Arg)	LOC130006418, TPBGL (G280R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238407	NM_001195528.2(TPBGL):c.799C>T (p.Pro267Ser)	LOC130006418, TPBGL (P267S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207290	NM_001195528.2(TPBGL):c.779G>C (p.Arg260Pro)	LOC130006418, TPBGL (R260P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic