"Ambry Genetics"[submitter] AND "R3HDM4"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3150523	NM_138774.4(R3HDM4):c.784G>A (p.Ala262Thr)	R3HDM4 (A262T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409170	NM_138774.4(R3HDM4):c.764C>T (p.Pro255Leu)	R3HDM4 (P255L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270479	NM_138774.4(R3HDM4):c.711C>G (p.Asp237Glu)	R3HDM4 (D237E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219221	NM_138774.4(R3HDM4):c.607G>A (p.Val203Met)	R3HDM4 (V203M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299902	NM_138774.4(R3HDM4):c.496C>G (p.Arg166Gly)	R3HDM4 (R166G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615203	NM_138774.4(R3HDM4):c.478G>A (p.Asp160Asn)	R3HDM4 (D160N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209023	NM_138774.4(R3HDM4):c.469A>G (p.Arg157Gly)	R3HDM4 (R157G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411901	NM_138774.4(R3HDM4):c.449C>A (p.Pro150His)	R3HDM4 (P150H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406926	NM_138774.4(R3HDM4):c.437G>C (p.Arg146Pro)	R3HDM4 (R146P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458269	NM_138774.4(R3HDM4):c.431A>G (p.Lys144Arg)	R3HDM4 (K144R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329080	NM_138774.4(R3HDM4):c.418G>A (p.Glu140Lys)	R3HDM4 (E140K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150522	NM_138774.4(R3HDM4):c.407A>T (p.Tyr136Phe)	R3HDM4 (Y136F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150521	NM_138774.4(R3HDM4):c.337G>A (p.Ala113Thr)	R3HDM4 (A113T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249631	NM_138774.4(R3HDM4):c.322G>A (p.Glu108Lys)	R3HDM4 (E108K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589919	NM_138774.4(R3HDM4):c.320C>T (p.Ala107Val)	R3HDM4 (A107V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150519	NM_138774.4(R3HDM4):c.262G>A (p.Gly88Ser)	R3HDM4 (G88S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3150518	NM_138774.4(R3HDM4):c.259G>A (p.Gly87Arg)	R3HDM4 (G87R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364793	NM_138774.4(R3HDM4):c.58G>T (p.Gly20Trp)	LOC130062850, R3HDM4 (G20W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526878	NM_138774.4(R3HDM4):c.53C>T (p.Pro18Leu)	LOC130062850, R3HDM4 (P18L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276275	NM_138774.4(R3HDM4):c.45G>T (p.Glu15Asp)	LOC130062850, R3HDM4 (E15D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 20