"Ambry Genetics"[submitter] AND "GOLM1"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2597635	NM_016548.4(GOLM1):c.1171C>T (p.Leu391Phe)	GOLM1 (L391F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281968	NM_016548.4(GOLM1):c.1144G>T (p.Asp382Tyr)	GOLM1 (D382Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392306	NM_016548.4(GOLM1):c.1052A>G (p.Tyr351Cys)	GOLM1 (Y351C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276036	NM_016548.4(GOLM1):c.1016G>A (p.Gly339Glu)	GOLM1 (G339E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100953	NM_016548.4(GOLM1):c.991G>A (p.Glu331Lys)	GOLM1 (E331K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527016	NM_016548.4(GOLM1):c.870C>G (p.Phe290Leu)	GOLM1 (F290L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300105	NM_016548.4(GOLM1):c.827G>A (p.Arg276Gln)	GOLM1 (R276Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2554065	NM_016548.4(GOLM1):c.751G>C (p.Glu251Gln)	GOLM1 (E251Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390178	NM_016548.4(GOLM1):c.679G>A (p.Val227Met)	GOLM1 (V227M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100952	NM_016548.4(GOLM1):c.671A>T (p.Lys224Met)	GOLM1 (K224M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213487	NM_016548.4(GOLM1):c.655G>C (p.Glu219Gln)	GOLM1 (E219Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281966	NM_016548.4(GOLM1):c.583G>A (p.Asp195Asn)	GOLM1 (D195N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538608	NM_016548.4(GOLM1):c.581A>G (p.Asn194Ser)	GOLM1 (N194S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510487	NM_016548.4(GOLM1):c.580A>G (p.Asn194Asp)	GOLM1 (N194D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100951	NM_016548.4(GOLM1):c.425A>T (p.Gln142Leu)	GOLM1 (Q142L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281967	NM_016548.4(GOLM1):c.370T>G (p.Leu124Val)	GOLM1 (L124V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592821	NM_016548.4(GOLM1):c.304G>A (p.Glu102Lys)	GOLM1 (E102K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508964	NM_016548.4(GOLM1):c.266A>G (p.Asn89Ser)	GOLM1 (N89S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258620	NM_016548.4(GOLM1):c.257C>T (p.Ser86Phe)	GOLM1 (S86F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609919	NM_016548.4(GOLM1):c.204C>G (p.Asn68Lys)	GOLM1 (N68K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254822	NM_016548.4(GOLM1):c.187G>A (p.Val63Met)	GOLM1 (V63M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100949	NM_016548.4(GOLM1):c.172G>A (p.Ala58Thr)	GOLM1 (A58T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232351	NM_016548.4(GOLM1):c.130A>G (p.Thr44Ala)	GOLM1 (T44A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100948	NM_016548.4(GOLM1):c.113G>A (p.Arg38Gln)	GOLM1, LOC126860666 (R38Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622918	NM_016548.4(GOLM1):c.104C>T (p.Ala35Val)	GOLM1, LOC126860666 (A35V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281970	NM_016548.4(GOLM1):c.22C>T (p.Arg8Cys)	GOLM1, LOC126860666 (R8C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281969	NM_016548.4(GOLM1):c.4A>T (p.Met2Leu)	GOLM1, LOC126860666 (M2L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 27