"Ambry Genetics"[submitter] AND "RNF144A"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2234699	NM_014746.6(RNF144A):c.100A>G (p.Thr34Ala)	RNF144A (T34A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2599802	NM_014746.6(RNF144A):c.184G>A (p.Ala62Thr)	RNF144A (A62T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2401807	NM_014746.6(RNF144A):c.271C>G (p.Gln91Glu)	RNF144A (Q91E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255459	NM_014746.6(RNF144A):c.373G>A (p.Val125Met)	RNF144A (V125M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2609721	NM_014746.6(RNF144A):c.402G>C (p.Gln134His)	RNF144A (Q134H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2203925	NM_014746.6(RNF144A):c.416G>A (p.Arg139His)	RNF144A (R139H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2539679	NM_014746.6(RNF144A):c.474G>C (p.Glu158Asp)	RNF144A (E158D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368821	NM_014746.6(RNF144A):c.485T>G (p.Ile162Ser)	RNF144A (I162S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397862	NM_014746.6(RNF144A):c.535G>A (p.Asp179Asn)	RNF144A (D179N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330361	NM_014746.6(RNF144A):c.561G>C (p.Lys187Asn)	RNF144A (K104N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545836	NM_014746.6(RNF144A):c.574A>G (p.Ile192Val)	RNF144A (I109V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335904	NM_014746.6(RNF144A):c.710G>A (p.Gly237Asp)	RNF144A (G154D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346868	NM_014746.6(RNF144A):c.757A>G (p.Ile253Val)	RNF144A (I170V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2401250	NM_014746.6(RNF144A):c.811G>A (p.Ala271Thr)	RNF144A (A271T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2308308	NM_014746.6(RNF144A):c.814A>G (p.Thr272Ala)	RNF144A (T189A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2478177	NM_014746.6(RNF144A):c.866C>T (p.Pro289Leu)	RNF144A (P289L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance