TAPBPL[gene] and "single gene"[properties] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2248327	NM_018009.5(TAPBPL):c.65A>G (p.Lys22Arg)	TAPBPL (K22R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3173822	NM_018009.5(TAPBPL):c.79G>A (p.Glu27Lys)	TAPBPL (E27K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2393666	NM_018009.5(TAPBPL):c.282C>G (p.Ile94Met)	TAPBPL (I94M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2554272	NM_018009.5(TAPBPL):c.284T>C (p.Phe95Ser)	TAPBPL (F95S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3173820	NM_018009.5(TAPBPL):c.322G>A (p.Glu108Lys)	TAPBPL (E108K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2530147	NM_018009.5(TAPBPL):c.376C>T (p.Arg126Cys)	TAPBPL (R126C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2547076	NM_018009.5(TAPBPL):c.494C>T (p.Thr165Ile)	TAPBPL (T165I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 689676	NM_018009.5(TAPBPL):c.526A>C (p.Asn176His)	TAPBPL (N46H +1 more)	Single nucleotide variant (missense variant +1 more)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 3173821	NM_018009.5(TAPBPL):c.557G>A (p.Arg186Gln)	TAPBPL (R186Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2236346	NM_018009.5(TAPBPL):c.562G>A (p.Ala188Thr)	TAPBPL (A188T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316259	NM_018009.5(TAPBPL):c.632A>T (p.Asp211Val)	TAPBPL (D211V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256089	NM_018009.5(TAPBPL):c.649G>A (p.Ala217Thr)	TAPBPL (A217T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560975	NM_018009.5(TAPBPL):c.683G>A (p.Arg228Gln)	TAPBPL (R98Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217515	NM_018009.5(TAPBPL):c.748C>T (p.Arg250Trp)	TAPBPL (R250W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509747	NM_018009.5(TAPBPL):c.749G>A (p.Arg250Gln)	TAPBPL (R120Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559122	NM_018009.5(TAPBPL):c.941C>T (p.Ala314Val)	TAPBPL (A184V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267616	NM_018009.5(TAPBPL):c.1196T>C (p.Val399Ala)	TAPBPL (V269A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218730	NM_018009.5(TAPBPL):c.1210C>T (p.Arg404Trp)	TAPBPL (R274W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250485	NM_018009.5(TAPBPL):c.1343G>A (p.Cys448Tyr)	TAPBPL (C318Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226129	NM_018009.5(TAPBPL):c.1385C>T (p.Ala462Val)	TAPBPL (A332V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 20