"Ambry Genetics"[submitter] AND "RBM48"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2284495	NM_032120.4(RBM48):c.22C>G (p.Leu8Val)	LOC129998797, RBM48 (L8V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2232007	NM_032120.4(RBM48):c.38A>G (p.Asp13Gly)	LOC129998797, RBM48 (D13G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2525950	NM_032120.4(RBM48):c.45C>A (p.His15Gln)	LOC129998797, RBM48 (H15Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2219670	NM_032120.4(RBM48):c.169G>C (p.Gly57Arg)	RBM48 (G57R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2401248	NM_032120.4(RBM48):c.190G>C (p.Glu64Gln)	RBM48 (E64Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2553445	NM_032120.4(RBM48):c.248C>T (p.Ala83Val)	RBM48 (A83V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2461676	NM_032120.4(RBM48):c.440A>C (p.Glu147Ala)	RBM48 (E147A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2599666	NM_032120.4(RBM48):c.484C>G (p.His162Asp)	RBM48 (H162D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2286396	NM_032120.4(RBM48):c.603G>T (p.Leu201Phe)	RBM48 (L201F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549533	NM_032120.4(RBM48):c.643G>T (p.Gly215Trp)	RBM48 (G40W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400232	NM_032120.4(RBM48):c.680A>T (p.Asp227Val)	RBM48 (D227V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2358338	NM_032120.4(RBM48):c.733C>T (p.Arg245Trp)	RBM48 (R70W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1391385	NM_032120.4(RBM48):c.752C>T (p.Ser251Phe)	RBM48 (S251F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2218303	NM_032120.4(RBM48):c.766G>T (p.Val256Leu)	RBM48 (V256L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2352629	NM_032120.4(RBM48):c.797C>T (p.Thr266Met)	RBM48 (T266M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284014	NM_032120.4(RBM48):c.911G>C (p.Gly304Ala)	RBM48 (G129A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554551	NM_032120.4(RBM48):c.1061A>G (p.Asp354Gly)	RBM48 (D179G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2274410	NM_032120.4(RBM48):c.1063G>T (p.Val355Leu)	RBM48 (V355L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance