Related gene-specific medical variations for Gene (Select 51015) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3286634	NM_016048.2(ISOC1):c.265G>C (p.Val89Leu)	ISOC1, LOC129994531 (V89L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286633	NM_016048.2(ISOC1):c.90C>G (p.Phe30Leu)	ISOC1, LOC129994531 (F30L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111050	NM_016048.2(ISOC1):c.71G>C (p.Gly24Ala)	ISOC1, LOC129994531 (G24A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111046	NM_016048.2(ISOC1):c.296C>T (p.Pro99Leu)	ISOC1, LOC129994531 (P99L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111045	NM_016048.2(ISOC1):c.23T>A (p.Val8Asp)	ISOC1, LOC129994531 (V8D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610258	NM_016048.2(ISOC1):c.178G>T (p.Asp60Tyr)	ISOC1, LOC129994531 (D60Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606283	NM_016048.2(ISOC1):c.268A>G (p.Ser90Gly)	ISOC1, LOC129994531 (S90G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510473	NM_016048.2(ISOC1):c.62C>T (p.Ala21Val)	ISOC1, LOC129994531 (A21V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479719	NM_016048.2(ISOC1):c.31C>T (p.Leu11Phe)	ISOC1, LOC129994531 (L11F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330044	NM_016048.2(ISOC1):c.289C>A (p.Leu97Ile)	ISOC1, LOC129994531 (L97I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247284	NM_016048.2(ISOC1):c.26T>C (p.Leu9Pro)	ISOC1, LOC129994531 (L9P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2238799	NM_016048.2(ISOC1):c.101T>C (p.Val34Ala)	ISOC1, LOC129994531 (V34A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance