ClinVar for Gene (Select 81691) - ClinVar - NCBI

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

Links from Gene

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3153333	NM_030941.3(REXO5):c.761G>T (p.Gly254Val)	REXO5 (G254V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153332	NM_030941.3(REXO5):c.596C>T (p.Thr199Met)	REXO5 (T199M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153331	NM_030941.3(REXO5):c.461C>T (p.Pro154Leu)	REXO5 (P154L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153329	NM_030941.3(REXO5):c.406G>A (p.Asp136Asn)	REXO5 (D136N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3153328	NM_030941.3(REXO5):c.289G>A (p.Val97Ile)	REXO5 (V97I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153327	NM_030941.3(REXO5):c.2245A>T (p.Thr749Ser)	REXO5 (T718S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153326	NM_030941.3(REXO5):c.2081G>T (p.Gly694Val)	REXO5 (G663V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153325	NM_030941.3(REXO5):c.2026A>G (p.Arg676Gly)	REXO5 (R645G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153324	NM_030941.3(REXO5):c.1765G>A (p.Val589Met)	REXO5 (V589M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153323	NM_030941.3(REXO5):c.1516A>G (p.Thr506Ala)	REXO5 (T506A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153322	NM_030941.3(REXO5):c.1264G>A (p.Val422Ile)	REXO5 (V422I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277572	NM_001142725.2(ERI2):c.5C>T (p.Ala2Val)	ERI2, REXO5 (A2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 151156	GRCh38/hg38 16p12.3-12.2(chr16:20408020-21244474)x1	ACSM1, ACSM2A +35 more	Copy number loss	See cases	GUncertain significance
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	LOC125146428, LOC125146429 +400 more	Copy number gain	See cases	GPathogenic