"Ambry Genetics"[submitter] AND "GOSR1"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3101015	NM_001007025.2(GOSR1):c.13A>G (p.Thr5Ala)	GOSR1 (T5A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2387357	NM_001007025.2(GOSR1):c.70G>A (p.Asp24Asn)	GOSR1 (D24N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3101016	NM_001007025.2(GOSR1):c.149C>A (p.Ser50Tyr)	GOSR1 (S52Y +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2324528	NM_001007025.2(GOSR1):c.192G>C (p.Met64Ile)	GOSR1 (M1I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517386	NM_001007025.2(GOSR1):c.269C>T (p.Thr90Ile)	GOSR1 (T90I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398069	NM_001007025.2(GOSR1):c.410T>C (p.Met137Thr)	GOSR1 (M137T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550839	NM_001007025.2(GOSR1):c.427G>A (p.Asp143Asn)	GOSR1 (D145N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101017	NM_001007025.2(GOSR1):c.432T>G (p.Ile144Met)	GOSR1 (I144M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267809	NM_001007025.2(GOSR1):c.506G>A (p.Arg169Gln)	GOSR1 (R169Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408088	NM_001007025.2(GOSR1):c.595A>G (p.Ile199Val)	GOSR1 (I201V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371827	NM_001007025.2(GOSR1):c.623A>T (p.Asn208Ile)	GOSR1 (N208I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393856	NM_001007025.2(GOSR1):c.656G>T (p.Arg219Met)	GOSR1 (R219M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342855	NM_001007025.2(GOSR1):c.677G>A (p.Arg226Gln)	GOSR1 (R228Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211384	NM_001007025.2(GOSR1):c.698G>C (p.Gly233Ala)	GOSR1 (G235A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381418	NM_001007025.2(GOSR1):c.734A>G (p.Tyr245Cys)	GOSR1 (Y182C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance