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

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3185960	NM_145314.3(UCMA):c.404G>A (p.Arg135His)	UCMA (R103H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185959	NM_145314.3(UCMA):c.385C>G (p.Pro129Ala)	UCMA (P129A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185958	NM_145314.3(UCMA):c.359G>A (p.Arg120His)	UCMA (R88H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349554	NM_145314.3(UCMA):c.338G>A (p.Arg113Gln)	UCMA (R113Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185957	NM_145314.3(UCMA):c.337C>T (p.Arg113Trp)	UCMA (R81W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185955	NM_145314.3(UCMA):c.320A>G (p.Glu107Gly)	UCMA (E107G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185954	NM_145314.3(UCMA):c.316G>A (p.Asp106Asn)	UCMA (D74N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185953	NM_145314.3(UCMA):c.304G>C (p.Glu102Gln)	UCMA (E102Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185952	NM_145314.3(UCMA):c.190C>T (p.Arg64Trp)	UCMA (R64W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523682	NM_145314.3(UCMA):c.187A>C (p.Lys63Gln)	UCMA (K63Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509636	NM_145314.3(UCMA):c.145A>G (p.Met49Val)	UCMA (M49V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242230	NM_145314.3(UCMA):c.134A>G (p.Gln45Arg)	UCMA (Q45R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249480	NM_145314.3(UCMA):c.126T>G (p.Asp42Glu)	UCMA (D42E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185951	NM_145314.3(UCMA):c.117G>A (p.Ala39=)	UCMA	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3330777	NM_145314.3(UCMA):c.88G>A (p.Gly30Ser)	UCMA (G30S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance