"Ambry Genetics"[submitter] AND "CA5BP1-CA5B"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2510237	NM_007220.4(CA5B):c.41C>G (p.Ser14Cys)	CA5B, CA5BP1-CA5B (S14C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2485470	NM_007220.4(CA5B):c.77C>T (p.Pro26Leu)	CA5B, CA5BP1-CA5B (P26L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2382608	NM_007220.4(CA5B):c.102C>G (p.Cys34Trp)	CA5BP1-CA5B, CA5B (C34W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2351603	NM_007220.4(CA5B):c.140C>T (p.Ala47Val)	CA5BP1-CA5B, CA5B (A47V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2205423	NM_007220.4(CA5B):c.148C>G (p.Pro50Ala)	CA5B, CA5BP1-CA5B (P50A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2322932	NM_007220.4(CA5B):c.202A>G (p.Asn68Asp)	CA5BP1-CA5B, CA5B (N68D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2329764	NM_007220.4(CA5B):c.247C>G (p.Leu83Val)	CA5BP1-CA5B, CA5B (L83V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2556471	NM_007220.4(CA5B):c.248T>G (p.Leu83Arg)	CA5B, CA5BP1-CA5B (L83R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2307096	NM_007220.4(CA5B):c.433G>A (p.Val145Met)	CA5BP1-CA5B, CA5B (V145M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2401023	NM_007220.4(CA5B):c.449T>C (p.Phe150Ser)	CA5BP1-CA5B, CA5B (F150S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2388712	NM_007220.4(CA5B):c.602C>T (p.Pro201Leu)	CA5B, CA5BP1-CA5B (P201L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2342688	NM_007220.4(CA5B):c.632A>G (p.Glu211Gly)	CA5B, CA5BP1-CA5B (E211G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2307242	NM_007220.4(CA5B):c.811G>A (p.Gly271Arg)	CA5BP1-CA5B, CA5B (G271R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2407865	NM_007220.4(CA5B):c.845G>A (p.Arg282His)	CA5B, CA5BP1-CA5B +1 more (R282H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2263185	NM_007220.4(CA5B):c.878G>A (p.Arg293His)	CA5B, CA5BP1-CA5B +1 more (R293H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2303680	NM_007220.4(CA5B):c.890G>A (p.Arg297Gln)	CA5B, CA5BP1-CA5B +1 more (R297Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign