"Ambry Genetics"[submitter] AND "GIN1"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2593389	NM_017676.2(GIN1):c.1454T>C (p.Leu485Pro)	GIN1 (L338P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2355243	NM_017676.2(GIN1):c.1343T>C (p.Ile448Thr)	GIN1 (I448T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2398450	NM_017676.2(GIN1):c.1342A>G (p.Ile448Val)	GIN1 (I301V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2299598	NM_017676.2(GIN1):c.1316G>T (p.Gly439Val)	GIN1 (G292V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2543792	NM_017676.2(GIN1):c.1301T>A (p.Leu434His)	GIN1 (L434H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2402892	NM_017676.2(GIN1):c.1247T>C (p.Ile416Thr)	GIN1 (I269T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252119	NM_017676.2(GIN1):c.1196G>C (p.Ser399Thr)	GIN1 (S252T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268242	NM_017676.2(GIN1):c.1121G>C (p.Arg374Thr)	GIN1 (R374T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613432	NM_017676.2(GIN1):c.1022A>G (p.Asn341Ser)	GIN1 (N194S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373095	NM_017676.2(GIN1):c.914T>G (p.Val305Gly)	GIN1 (V305G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595689	NM_017676.2(GIN1):c.727C>A (p.Pro243Thr)	GIN1 (P243T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468445	NM_017676.2(GIN1):c.662T>G (p.Leu221Trp)	GIN1 (L74W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603743	NM_017676.2(GIN1):c.525G>T (p.Leu175Phe)	GIN1 (L175F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2460092	NM_017676.2(GIN1):c.404A>G (p.Lys135Arg)	GIN1 (K135R)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2454725	NM_017676.2(GIN1):c.389A>T (p.Lys130Ile)	GIN1 (K130I)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2463130	NM_017676.2(GIN1):c.379G>A (p.Val127Ile)	GIN1 (V127I)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2311534	NM_017676.2(GIN1):c.88C>T (p.Pro30Ser)	GIN1 (P30S)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2393574	NM_017676.2(GIN1):c.69A>T (p.Glu23Asp)	GIN1 (E23D)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2599782	NM_017676.2(GIN1):c.32A>G (p.His11Arg)	GIN1 (H11R)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance