"Ambry Genetics"[submitter] AND "R3HCC1"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2279847	NM_001136108.3(R3HCC1):c.842T>C (p.Leu281Pro)	R3HCC1 (L239P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2247833	NM_001136108.3(R3HCC1):c.899A>G (p.His300Arg)	R3HCC1 (H300R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2302895	NM_001136108.3(R3HCC1):c.992C>A (p.Thr331Lys)	R3HCC1 (T289K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2258325	NM_001136108.3(R3HCC1):c.1114C>T (p.Arg372Trp)	R3HCC1 (R372W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2339114	NM_001136108.3(R3HCC1):c.1122C>A (p.Phe374Leu)	R3HCC1 (F332L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2596368	NM_001136108.3(R3HCC1):c.1124C>T (p.Ser375Leu)	R3HCC1 (S333L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2352001	NM_001136108.3(R3HCC1):c.1201C>T (p.Arg401Cys)	R3HCC1 (R401C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2392333	NM_001136108.3(R3HCC1):c.1202G>A (p.Arg401His)	R3HCC1 (R359H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2517684	NM_001136108.3(R3HCC1):c.1244G>A (p.Arg415Gln)	R3HCC1 (R373Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2273003	NM_001136108.3(R3HCC1):c.1282A>G (p.Lys428Glu)	R3HCC1 (K386E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2554583	NM_001136108.3(R3HCC1):c.1303C>T (p.Arg435Trp)	R3HCC1 (R393W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2601122	NM_001136108.3(R3HCC1):c.1304G>A (p.Arg435Gln)	R3HCC1 (R393Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign