"Ambry Genetics"[submitter] AND "LOC130058878"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1329231	NM_001330.5(CTF1):c.190C>T (p.Pro64Ser)	CTF1, LOC130058878 (P63S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3078608	NM_001330.5(CTF1):c.208G>A (p.Gly70Ser)	CTF1, LOC130058878 (G70S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1001974	NM_001330.5(CTF1):c.253G>A (p.Glu85Lys)	CTF1, LOC130058878 (E84K +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated Cardiomyopathy, Dominant +1 more	GUncertain significance
Select item 3078609	NM_001330.5(CTF1):c.296C>T (p.Pro99Leu)	CTF1, LOC130058878 (P98L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2732186	NM_001330.5(CTF1):c.347C>T (p.Pro116Leu)	CTF1, LOC130058878 (P116L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 318955	NM_001330.5(CTF1):c.347C>G (p.Pro116Arg)	CTF1, LOC130058878 (P116R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1465781	NM_001330.5(CTF1):c.356T>G (p.Leu119Arg)	CTF1, LOC130058878 (L118R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 478119	NM_001330.5(CTF1):c.454G>C (p.Ala152Pro)	CTF1, LOC130058878 (A152P +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated Cardiomyopathy, Dominant +1 more	GConflicting classifications of pathogenicity
Select item 2384468	NM_001330.5(CTF1):c.472A>C (p.Thr158Pro)	CTF1, LOC130058878 (T157P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483598	NM_001330.5(CTF1):c.573C>A (p.Asp191Glu)	CTF1, LOC130058878 (D190E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance