Related gene-specific medical variations for Gene (Select 114625) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3090288	NM_001017922.2(ERMAP):c.866C>T (p.Thr289Met)	ERMAP, ZNF691-DT (T289M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090287	NM_001017922.2(ERMAP):c.813C>A (p.Asp271Glu)	ERMAP, ZNF691-DT (D271E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090283	NM_001017922.2(ERMAP):c.1045T>A (p.Phe349Ile)	ERMAP, ZNF691-DT (F349I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3043285	NM_001017922.2(ERMAP):c.789A>G (p.Gly263=)	ERMAP, ZNF691-DT	Single nucleotide variant (synonymous variant)	ERMAP-related disorder	GLikely benign
Select item 3035409	NM_001017922.2(ERMAP):c.1035G>A (p.Pro345=)	ERMAP, ZNF691-DT	Single nucleotide variant (synonymous variant +1 more)	ERMAP-related disorder	GLikely benign
Select item 2540244	NM_001017922.2(ERMAP):c.1340C>G (p.Pro447Arg)	ERMAP, ZNF691-DT (P447R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514385	NM_001017922.2(ERMAP):c.1378C>T (p.Pro460Ser)	ERMAP, ZNF691-DT (P460S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382097	NM_001017922.2(ERMAP):c.1033C>T (p.Pro345Ser)	ERMAP, ZNF691-DT (P345S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287719	NM_001017922.2(ERMAP):c.1194C>G (p.Cys398Trp)	ERMAP, ZNF691-DT (C398W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281545	NM_001017922.2(ERMAP):c.1293T>A (p.His431Gln)	ERMAP, ZNF691-DT (H431Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239931	NM_001017922.2(ERMAP):c.1105A>G (p.Ile369Val)	ERMAP, ZNF691-DT (I369V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance