Related gene-specific medical variations for Gene (Select 57535) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3088148	NM_020775.5(ELAPOR1):c.2383G>A (p.Val795Met)	ELAPOR1, LOC126805820 (V457M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088147	NM_020775.5(ELAPOR1):c.2305G>T (p.Val769Leu)	ELAPOR1, LOC126805820 (V667L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088146	NM_020775.5(ELAPOR1):c.2216G>A (p.Cys739Tyr)	ELAPOR1, LOC126805820 (C401Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088144	NM_020775.5(ELAPOR1):c.2144C>T (p.Thr715Ile)	ELAPOR1, LOC126805820 (T377I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509270	NM_020775.5(ELAPOR1):c.2165G>A (p.Arg722Gln)	ELAPOR1, LOC126805820 (R620Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777928	NM_020775.5(ELAPOR1):c.2154C>G (p.Val718=)	ELAPOR1, LOC126805820	Single nucleotide variant (synonymous variant)	not provided	GBenign

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