"Ambry Genetics"[submitter] AND "C12orf43"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 586790	NM_000545.8(HNF1A):c.1800C>T (p.Ser600=)	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant +1 more)	Maturity onset diabetes mellitus in young +3 more	GBenign/Likely benign
Select item 36813	NM_000545.8(HNF1A):c.1854C>G (p.Ile618Met)	C12orf43, HNF1A (I618M +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 972764	NM_000545.8(HNF1A):c.1855G>A (p.Glu619Lys)	C12orf43, HNF1A (E619K +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Maturity-onset diabetes of the young type 3 +2 more	GConflicting classifications of pathogenicity
Select item 1781620	NM_000545.8(HNF1A):c.1869del (p.Thr624fs)	C12orf43, HNF1A (T624fs +1 more)	Deletion (3 prime UTR variant +1 more)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 377966	NM_022895.3(C12orf43):c.*2956C>T	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2239881	NM_022895.3(C12orf43):c.398G>T (p.Arg133Leu)	C12orf43 (R122L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237036	NM_022895.3(C12orf43):c.302C>T (p.Ser101Leu)	C12orf43 (S59L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411781	NM_022895.3(C12orf43):c.14G>A (p.Ser5Asn)	C12orf43 (S5N)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2256246	NM_022895.3(C12orf43):c.10C>T (p.Pro4Ser)	C12orf43 (P4S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance