Related gene-specific medical variations for Gene (Select 57488) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3090666	NM_001367773.1(ESYT2):c.247C>T (p.Arg83Cys)	ESYT2, LOC129999762 (R83C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090665	NM_001367773.1(ESYT2):c.238A>G (p.Lys80Glu)	ESYT2, LOC129999762 (K80E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090664	NM_001367773.1(ESYT2):c.2530G>A (p.Glu844Lys)	ESYT2, LOC126860261 (E844K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090656	NM_001367773.1(ESYT2):c.52G>A (p.Gly18Ser)	ESYT2, LOC129999763 (G18S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090655	NM_001367773.1(ESYT2):c.46G>T (p.Ala16Ser)	ESYT2, LOC129999763 (A16S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090651	NM_001367773.1(ESYT2):c.16G>A (p.Gly6Ser)	ESYT2, LOC129999763 (G6S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616279	NM_001367773.1(ESYT2):c.-90G>C	ESYT2, LOC129999763	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2515893	NM_001367773.1(ESYT2):c.-84C>T	ESYT2, LOC129999763	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2486159	NM_001367773.1(ESYT2):c.196G>C (p.Ala66Pro)	ESYT2, LOC129999762 (A66P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459787	NM_001367773.1(ESYT2):c.14G>A (p.Arg5Gln)	ESYT2, LOC129999763 (R5Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355708	NM_001367773.1(ESYT2):c.-55C>G	ESYT2, LOC129999763	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2273423	NM_001367773.1(ESYT2):c.-87G>C	ESYT2, LOC129999763	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2212401	NM_001367773.1(ESYT2):c.212C>G (p.Ala71Gly)	ESYT2, LOC129999762 (A71G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance