"Ambry Genetics"[submitter] AND "LOC126861108"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2206812	NM_001012302.3(ANO9):c.1094C>T (p.Ser365Leu)	ANO9, LOC126861108 (S221L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127177	NM_001012302.3(ANO9):c.1066G>A (p.Val356Ile)	ANO9, LOC126861108 (V356I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398344	NM_001012302.3(ANO9):c.1064G>A (p.Arg355His)	ANO9, LOC126861108 (R211H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369119	NM_001012302.3(ANO9):c.1036G>A (p.Gly346Ser)	ANO9, LOC126861108 (G202S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599884	NM_001012302.3(ANO9):c.994G>A (p.Val332Ile)	ANO9, LOC126861108 (V332I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2592961	NM_001012302.3(ANO9):c.973C>T (p.His325Tyr)	ANO9, LOC126861108 (H325Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308371	NM_001012302.3(ANO9):c.962G>T (p.Arg321Leu)	ANO9, LOC126861108 (R177L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211574	NM_001012302.3(ANO9):c.962G>A (p.Arg321Gln)	ANO9, LOC126861108 (R177Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299179	NM_001012302.3(ANO9):c.944G>A (p.Cys315Tyr)	ANO9, LOC126861108 (C171Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127198	NM_001012302.3(ANO9):c.909G>C (p.Glu303Asp)	ANO9, LOC126861108 (E159D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602131	NM_001012302.3(ANO9):c.872G>A (p.Arg291His)	ANO9, LOC126861108 (R147H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299169	NM_001012302.3(ANO9):c.836C>T (p.Thr279Met)	ANO9, LOC126861108 (T135M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance