Related gene-specific medical variations for Gene (Select 23344) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3090641	NM_015292.3(ESYT1):c.3265G>A (p.Val1089Ile)	ESYT1, LOC126861536 (V1099I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090639	NM_015292.3(ESYT1):c.2944T>C (p.Tyr982His)	ESYT1, LOC126861536 (Y992H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090638	NM_015292.3(ESYT1):c.2852C>G (p.Ala951Gly)	ESYT1, LOC126861536 (A961G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610889	NM_015292.3(ESYT1):c.3013C>T (p.Pro1005Ser)	ESYT1, LOC126861536 (P1005S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594863	NM_015292.3(ESYT1):c.3004G>C (p.Gly1002Arg)	ESYT1, LOC126861536 (G1002R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592584	NM_015292.3(ESYT1):c.2996G>A (p.Arg999Gln)	ESYT1, LOC126861536 (R999Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477858	NM_015292.3(ESYT1):c.2936T>C (p.Leu979Pro)	ESYT1, LOC126861536 (L979P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458373	NM_015292.3(ESYT1):c.2908G>A (p.Gly970Arg)	ESYT1, LOC126861536 (G980R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410602	NM_015292.3(ESYT1):c.3209G>A (p.Arg1070His)	ESYT1, LOC126861536 (R1080H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345655	NM_015292.3(ESYT1):c.3059G>A (p.Arg1020Gln)	ESYT1, LOC126861536 (R1030Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311673	NM_015292.3(ESYT1):c.3089A>C (p.Lys1030Thr)	ESYT1, LOC126861536 (K1030T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218287	NM_015292.3(ESYT1):c.2822C>T (p.Ser941Leu)	ESYT1, LOC126861536 (S941L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206089	NM_015292.3(ESYT1):c.3244G>C (p.Glu1082Gln)	ESYT1, LOC126861536 (E1092Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance