"Ambry Genetics"[submitter] AND "GOLM2"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2476694	NM_138423.4(GOLM2):c.191A>G (p.Glu64Gly)	GOLM2 (E64G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459288	NM_138423.4(GOLM2):c.200A>G (p.Asn67Ser)	GOLM2 (N67S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100959	NM_138423.4(GOLM2):c.226A>G (p.Thr76Ala)	GOLM2 (T76A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621162	NM_138423.4(GOLM2):c.232A>C (p.Lys78Gln)	GOLM2 (K78Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544718	NM_138423.4(GOLM2):c.265G>T (p.Gly89Cys)	GOLM2 (G89C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555655	NM_138423.4(GOLM2):c.297G>C (p.Glu99Asp)	GOLM2 (E99D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100960	NM_138423.4(GOLM2):c.350C>T (p.Ser117Leu)	GOLM2 (S117L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596385	NM_138423.4(GOLM2):c.412C>T (p.Leu138Phe)	GOLM2 (L138F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100961	NM_138423.4(GOLM2):c.430C>T (p.Leu144Phe)	GOLM2 (L144F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100962	NM_138423.4(GOLM2):c.450C>A (p.Asn150Lys)	GOLM2 (N150K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100963	NM_138423.4(GOLM2):c.470G>T (p.Arg157Met)	GOLM2 (R157M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100964	NM_138423.4(GOLM2):c.526C>A (p.His176Asn)	GOLM2 (H176N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100965	NM_138423.4(GOLM2):c.538A>T (p.Ile180Phe)	GOLM2 (I180F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100966	NM_138423.4(GOLM2):c.590A>G (p.Lys197Arg)	GOLM2 (K197R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100967	NM_138423.4(GOLM2):c.691C>A (p.Pro231Thr)	GOLM2 (P231T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100968	NM_138423.4(GOLM2):c.760A>G (p.Ile254Val)	GOLM2 (I254V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100969	NM_138423.4(GOLM2):c.785T>G (p.Val262Gly)	GOLM2 (V262G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100970	NM_138423.4(GOLM2):c.794T>A (p.Leu265His)	GOLM2 (L265H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471371	NM_138423.4(GOLM2):c.835C>T (p.His279Tyr)	GOLM2 (H279Y)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3100971	NM_138423.4(GOLM2):c.862C>G (p.Leu288Val)	GOLM2 (L288V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456257	NM_138423.4(GOLM2):c.950C>T (p.Pro317Leu)	GOLM2 (P317L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465682	NM_138423.4(GOLM2):c.1038G>T (p.Lys346Asn)	GOLM2 (K346N)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3100954	NM_138423.4(GOLM2):c.1039G>A (p.Asp347Asn)	GOLM2 (D347N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494842	NM_138423.4(GOLM2):c.1064T>C (p.Leu355Ser)	GOLM2 (L355S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544268	NM_138423.4(GOLM2):c.1082T>C (p.Phe361Ser)	GOLM2 (F361S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100955	NM_138423.4(GOLM2):c.1103T>C (p.Val368Ala)	GOLM2 (V368A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100956	NM_138423.4(GOLM2):c.1109C>T (p.Pro370Leu)	GOLM2 (P370L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100957	NM_138423.4(GOLM2):c.1219G>C (p.Gly407Arg)	GOLM2 (G407R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100958	NM_138423.4(GOLM2):c.1253G>A (p.Arg418Gln)	GOLM2 (R362Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 29