"Ambry Genetics"[submitter] AND "LOC101927078"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2207510	NM_021614.4(KCNN2):c.1831C>A (p.Leu611Ile)	KCNN2, LOC101927078 (L677I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2408393	NM_021614.4(KCNN2):c.1976A>G (p.Lys659Arg)	KCNN2, LOC101927078 (K659R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3287716	NM_021614.4(KCNN2):c.2144T>C (p.Phe715Ser)	KCNN2, LOC101927078 (F155S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3287718	NM_021614.4(KCNN2):c.2212G>C (p.Gly738Arg)	KCNN2, LOC101927078 (G178R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2326381	NM_021614.4(KCNN2):c.2267T>G (p.Met756Arg)	KCNN2, LOC101927078 (M756R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2536800	NM_021614.4(KCNN2):c.2308T>C (p.Ser770Pro)	KCNN2, LOC101927078 (S210P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2286949	NM_021614.4(KCNN2):c.2312G>A (p.Arg771Gln)	KCNN2, LOC101927078 (R211Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3287717	NM_021614.4(KCNN2):c.2318C>T (p.Ser773Leu)	KCNN2, LOC101927078 (S773L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3113448	NM_021614.4(KCNN2):c.2332C>T (p.Arg778Trp)	KCNN2, LOC101927078 (R844W +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2655648	NM_021614.4(KCNN2):c.2362T>C (p.Ser788Pro)	KCNN2, LOC101927078 (S228P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance