"Ambry Genetics"[submitter] AND "CGB1"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2622491	NM_033377.2(CGB1):c.452G>A (p.Arg151His)	CGB1 (R139H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535718	NM_033377.2(CGB1):c.452G>C (p.Arg151Pro)	CGB1 (R139P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143878	NM_033377.2(CGB1):c.436C>T (p.Leu146Phe)	CGB1 (L134F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143877	NM_033377.2(CGB1):c.435C>G (p.Ser145Arg)	CGB1 (S133R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266714	NM_033377.2(CGB1):c.430C>A (p.Pro144Thr)	CGB1 (P132T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476356	NM_033377.2(CGB1):c.430C>G (p.Pro144Ala)	CGB1 (P144A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143876	NM_033377.2(CGB1):c.422C>T (p.Ala141Val)	CGB1 (A141V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223398	NM_033377.2(CGB1):c.322T>C (p.Cys108Arg)	CGB1 (C96R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143875	NM_033377.2(CGB1):c.283A>G (p.Asn95Asp)	CGB1 (N83D +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3143874	NM_033377.2(CGB1):c.281T>G (p.Val94Gly)	CGB1 (V82G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143873	NM_033377.2(CGB1):c.280G>C (p.Val94Leu)	CGB1 (V94L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385428	NM_033377.2(CGB1):c.247G>C (p.Glu83Gln)	CGB1 (E71Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266715	NM_033377.2(CGB1):c.242G>C (p.Arg81Pro)	CGB1 (R69P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380607	NM_033377.2(CGB1):c.227A>C (p.Asn76Thr)	CGB1 (N64T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2553130	NM_033377.2(CGB1):c.185T>G (p.Val62Gly)	CGB1 (V50G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143872	NM_033377.2(CGB1):c.176T>C (p.Met59Thr)	CGB1 (M59T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540111	NM_033377.2(CGB1):c.148A>C (p.Thr50Pro)	CGB1 (T38P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143871	NM_033377.2(CGB1):c.124C>G (p.Pro42Ala)	CGB1 (P42A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226109	NM_033377.2(CGB1):c.52G>A (p.Ala18Thr)	CGB1 (A18T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance