"Ambry Genetics"[submitter] AND "C14orf39"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2382069	NM_174978.3(C14orf39):c.1061T>C (p.Leu354Ser)	C14orf39 (L354S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236932	NM_174978.3(C14orf39):c.1018A>G (p.Ile340Val)	C14orf39 (I340V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3135670	NM_174978.3(C14orf39):c.938A>G (p.Asn313Ser)	C14orf39 (N313S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260342	NM_174978.3(C14orf39):c.466A>C (p.Thr156Pro)	C14orf39 (T156P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548062	NM_007374.3(SIX6):c.124G>A (p.Ala42Thr)	C14orf39, SIX6 (A42T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2143349	NM_007374.3(SIX6):c.135G>C (p.Glu45Asp)	C14orf39, SIX6 (E45D)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2480461	NM_007374.3(SIX6):c.155C>G (p.Ser52Trp)	C14orf39, SIX6 (S52W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1923574	NM_007374.3(SIX6):c.265G>A (p.Ala89Thr)	C14orf39, SIX6 (A89T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2336886	NM_007374.3(SIX6):c.314G>C (p.Arg105Thr)	C14orf39, SIX6 (R105T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254619	NM_007374.3(SIX6):c.443T>G (p.Leu148Arg)	C14orf39, SIX6 (L148R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621506	NM_007374.3(SIX6):c.475C>A (p.Arg159Ser)	C14orf39, SIX6 (R159S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496480	NM_007374.3(SIX6):c.661A>T (p.Ser221Cys)	C14orf39, SIX6 (S221C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486010	NM_007374.3(SIX6):c.695C>T (p.Thr232Ile)	C14orf39, SIX6 (T232I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301864	NM_007374.3(SIX6):c.710T>C (p.Ile237Thr)	C14orf39, SIX6 (I237T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance