"Ambry Genetics"[submitter] AND "CDV3"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2481476	NM_017548.5(CDV3):c.49G>A (p.Asp17Asn)	CDV3, LOC129937600 (D17N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387335	NM_017548.5(CDV3):c.104C>T (p.Ala35Val)	CDV3, LOC129937601 (A35V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265628	NM_017548.5(CDV3):c.151G>A (p.Gly51Arg)	CDV3, LOC129937601 (G51R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457761	NM_017548.5(CDV3):c.155C>T (p.Ala52Val)	CDV3, LOC129937601 (A52V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532691	NM_017548.5(CDV3):c.173C>T (p.Pro58Leu)	CDV3, LOC129937601 (P58L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273851	NM_017548.5(CDV3):c.274G>A (p.Glu92Lys)	CDV3 (E92K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265629	NM_017548.5(CDV3):c.333A>C (p.Glu111Asp)	CDV3 (E110D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141754	NM_017548.5(CDV3):c.349A>G (p.Arg117Gly)	CDV3 (R116G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307546	NM_017548.5(CDV3):c.371G>T (p.Trp124Leu)	CDV3 (W123L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141755	NM_017548.5(CDV3):c.394G>A (p.Gly132Arg)	CDV3 (G131R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401551	NM_017548.5(CDV3):c.446C>T (p.Ala149Val)	CDV3 (A148V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461997	NM_017548.5(CDV3):c.490A>T (p.Met164Leu)	CDV3 (M163L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278491	NM_017548.5(CDV3):c.671A>G (p.Asn224Ser)	CDV3 (N224S +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2297509	NM_017548.5(CDV3):c.692C>T (p.Ser231Leu)	CDV3 (S230L +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2349516	NM_017548.5(CDV3):c.697A>C (p.Asn233His)	CDV3 (N233H +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2607076	NM_017548.5(CDV3):c.698A>T (p.Asn233Ile)	CDV3 (N232I +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2315326	NM_017548.5(CDV3):c.709A>C (p.Lys237Gln)	CDV3 (K135Q +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3141756	NM_017548.5(CDV3):c.740T>G (p.Leu247Arg)	CDV3 (L246R +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance