Related gene-specific medical variations for Gene (Select 100507050) - ClinVar - NCBI

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

Links from Gene

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2551055	NM_001195528.2(TPBGL):c.831C>G (p.Asp277Glu)	LOC130006418, TPBGL (D277E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476105	NM_001195528.2(TPBGL):c.859G>C (p.Asp287His)	LOC130006418, TPBGL (D287H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403030	NM_001195528.2(TPBGL):c.845G>T (p.Arg282Leu)	LOC130006418, TPBGL (R282L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393940	NM_001195528.2(TPBGL):c.862A>G (p.Ser288Gly)	LOC130006418, TPBGL (S288G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2308195	NM_001195528.2(TPBGL):c.821C>A (p.Pro274Gln)	LOC130006418, TPBGL (P274Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254299	NM_001195528.2(TPBGL):c.838G>A (p.Gly280Arg)	LOC130006418, TPBGL (G280R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238407	NM_001195528.2(TPBGL):c.799C>T (p.Pro267Ser)	LOC130006418, TPBGL (P267S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223492	NM_001195528.2(TPBGL):c.1012C>T (p.Arg338Cys)	LOC130006419, TPBGL (R338C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216255	NM_001195528.2(TPBGL):c.1017C>G (p.Asn339Lys)	LOC130006419, TPBGL (N339K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207290	NM_001195528.2(TPBGL):c.779G>C (p.Arg260Pro)	LOC130006418, TPBGL (R260P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance