"Ambry Genetics"[submitter] AND "GEMIN2"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2338822	NM_003616.2(GEMIN2):c.11C>T (p.Ala4Val)	GEMIN2 (A4V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2594630	NM_003616.3(GEMIN2):c.42G>T (p.Met14Ile)	GEMIN2 (M14I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099334	NM_003616.3(GEMIN2):c.239C>A (p.Pro80His)	GEMIN2 (P80H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099335	NM_003616.3(GEMIN2):c.259C>G (p.Pro87Ala)	GEMIN2 (P87A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099336	NM_003616.3(GEMIN2):c.262A>G (p.Thr88Ala)	GEMIN2 (T88A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290718	NM_003616.3(GEMIN2):c.272G>C (p.Trp91Ser)	GEMIN2 (W91S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099337	NM_003616.3(GEMIN2):c.547G>A (p.Val183Ile)	GEMIN2 (V168I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099338	NM_003616.3(GEMIN2):c.585C>G (p.Asp195Glu)	GEMIN2 (D195E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491196	NM_003616.3(GEMIN2):c.683G>A (p.Arg228Lys)	GEMIN2 (R213K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099339	NM_003616.3(GEMIN2):c.710T>A (p.Val237Glu)	GEMIN2 (V222E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099340	NM_003616.3(GEMIN2):c.791T>C (p.Leu264Ser)	GEMIN2 (L249S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance