Related gene-specific medical variations for Gene (Select 284359) - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3287091	NM_182575.3(IZUMO1):c.919G>T (p.Gly307Cys)	IZUMO1, LOC117125600 (G307C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287090	NM_182575.3(IZUMO1):c.917C>G (p.Thr306Ser)	IZUMO1, LOC117125600 (T132S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287089	NM_182575.3(IZUMO1):c.790C>T (p.Pro264Ser)	IZUMO1, LOC117125600 (P151S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483772	NM_182575.3(IZUMO1):c.919G>A (p.Gly307Ser)	IZUMO1, LOC117125600 (G194S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465207	NM_182575.3(IZUMO1):c.755T>C (p.Val252Ala)	IZUMO1, LOC117125600 (V252A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378858	NM_182575.3(IZUMO1):c.830C>T (p.Ser277Phe)	IZUMO1, LOC117125600 (S277F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347738	NM_182575.3(IZUMO1):c.694C>T (p.Arg232Cys)	IZUMO1, LOC117125600 (R232C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210832	NM_182575.3(IZUMO1):c.854C>T (p.Pro285Leu)	IZUMO1, LOC117125600 (P111L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance