Related gene-specific medical variations for Gene (Select 150084) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3108922	NM_001080444.2(IGSF5):c.916T>C (p.Cys306Arg)	IGSF5, LOC126653374 (C306R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652668	NM_001080444.2(IGSF5):c.859TGC[6] (p.Cys290_Arg291insCysCys)	IGSF5, LOC126653374	Microsatellite (inframe_insertion)	not provided	GLikely benign
Select item 2569066	NM_001080444.2(IGSF5):c.764C>T (p.Pro255Leu)	IGSF5, LOC126653374 (P255L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382263	NM_001080444.2(IGSF5):c.839C>T (p.Thr280Met)	IGSF5, LOC126653374 (T280M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344924	NM_001080444.2(IGSF5):c.833C>T (p.Thr278Met)	IGSF5, LOC126653374 (T278M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334434	NM_001080444.2(IGSF5):c.875G>A (p.Arg292His)	IGSF5, LOC126653374 (R292H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232055	NM_001080444.2(IGSF5):c.746G>A (p.Gly249Asp)	IGSF5, LOC126653374 (G249D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1601532	NM_001080444.2(IGSF5):c.834G>A (p.Thr278=)	IGSF5, LOC126653374	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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