"Ambry Genetics"[submitter] AND "GPR137"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2459152	NM_032989.3(BAD):c.246C>G (p.Asp82Glu)	BAD, GPR137 (D82E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2233535	NM_032989.3(BAD):c.244G>A (p.Asp82Asn)	BAD, GPR137 (D82N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2481755	NM_032989.3(BAD):c.236G>T (p.Gly79Val)	BAD, GPR137 (G79V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2492154	NM_032989.3(BAD):c.193G>A (p.Gly65Arg)	BAD, GPR137 (G65R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2339129	NM_032989.3(BAD):c.146G>A (p.Ser49Asn)	BAD, GPR137 (S49N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2337374	NM_032989.3(BAD):c.97G>A (p.Gly33Ser)	BAD, GPR137 (G33S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2381722	NM_032989.3(BAD):c.-8-15A>G	BAD, GPR137 (C9R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2351850	NM_001170880.2(GPR137):c.386G>A (p.Arg129Gln)	GPR137 (R129Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2393320	NM_001170880.2(GPR137):c.397A>G (p.Ser133Gly)	GPR137 (S133G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2370561	NM_001170880.2(GPR137):c.463G>A (p.Val155Met)	GPR137 (V155M)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2491615	NM_001170880.2(GPR137):c.485A>C (p.His162Pro)	GPR137 (H162P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2228777	NM_001170880.2(GPR137):c.724T>A (p.Leu242Met)	GPR137 (L242M +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2458246	NM_001170880.2(GPR137):c.740G>A (p.Arg247Gln)	GPR137 (R247Q +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2295301	NM_001170880.2(GPR137):c.919A>G (p.Ser307Gly)	GPR137 (S255G +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2610480	NM_001170880.2(GPR137):c.970C>T (p.Arg324Trp)	GPR137 (R324W +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2492848	NM_001170880.2(GPR137):c.1187C>T (p.Thr396Met)	GPR137 (R311C +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2294852	NM_001170880.2(GPR137):c.1188G>A (p.Thr396=)	GPR137 (R311H +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2221407	NM_001170880.2(GPR137):c.*54C>T	GPR137 (P330L +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2355819	NM_001170880.2(GPR137):c.*75C>T	GPR137 (P337L +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2221590	NM_001170880.2(GPR137):c.*84C>T	GPR137 (A390V +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance

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Items: 20