"Ambry Genetics"[submitter] AND "LOC111811967"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2291995	NM_004977.3(KCNC3):c.145G>A (p.Ala49Thr)	KCNC3, LOC111811967 (A49T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2569352	NM_004977.3(KCNC3):c.142C>T (p.Pro48Ser)	KCNC3, LOC111811967 (P48S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 447619	NM_004977.3(KCNC3):c.127C>T (p.Pro43Ser)	LOC111811967, KCNC3 (P43S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 2569351	NM_004977.3(KCNC3):c.110C>A (p.Pro37Gln)	KCNC3, LOC111811967 (P37Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2336313	NM_004977.3(KCNC3):c.80C>G (p.Pro27Arg)	KCNC3, LOC111811967 (P27R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 718964	NM_004977.3(KCNC3):c.71C>T (p.Pro24Leu)	KCNC3, LOC111811967 (P24L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GBenign
Select item 1389489	NM_004977.3(KCNC3):c.34G>T (p.Gly12Trp)	KCNC3, LOC111811967 (G12W)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3287526	NM_004977.3(KCNC3):c.32G>A (p.Arg11His)	KCNC3, LOC111811967 (R11H)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2485994	NM_004977.3(KCNC3):c.26C>T (p.Ser9Phe)	KCNC3, LOC111811967 (S9F)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 447623	NM_004977.3(KCNC3):c.23C>G (p.Ser8Trp)	KCNC3, LOC111811967 (S8W)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1429606	NM_004977.3(KCNC3):c.16T>A (p.Cys6Ser)	KCNC3, LOC111811967 (C6S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity