ClinVar for MedGen (Select 333560) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065278	NM_001218.5(CA12):c.668G>C (p.Gly223Ala)	CA12 (G163A +1 more)	Single nucleotide variant (missense variant +1 more)	Isolated hyperchlorhidrosis	GUncertain significance
Select item 1030305	NM_001218.5(CA12):c.355C>T (p.His119Tyr)	CA12 (H119Y +1 more)	Single nucleotide variant (missense variant +1 more)	Isolated hyperchlorhidrosis	GUncertain significance
Select item 973947	NM_001218.5(CA12):c.863_864insACCT (p.Phe289fs)	CA12 (F289fs +1 more)	Insertion (frameshift variant +1 more)	Isolated hyperchlorhidrosis	GUncertain significance
Select item 710051	NM_001218.5(CA12):c.228C>T (p.Phe76=)	CA12	Single nucleotide variant (synonymous variant +2 more)	Isolated hyperchlorhidrosis +1 more	GBenign
Select item 561267	NM_001218.5(CA12):c.956_957del (p.Val319fs)	CA12 (V248fs +2 more)	Microsatellite (frameshift variant +1 more)	Isolated hyperchlorhidrosis	GLikely pathogenic
Select item 218369	NM_001218.5(CA12):c.908-1G>A	CA12	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 218368	NM_001218.5(CA12):c.363C>A (p.His121Gln)	CA12 (H121Q +1 more)	Single nucleotide variant (missense variant +1 more)	Isolated hyperchlorhidrosis	GPathogenic
Select item 218367	NM_001218.5(CA12):c.859_860insACCT (p.Thr287fs)	CA12 (T287fs +1 more)	Insertion (non-coding transcript variant +1 more)	Isolated hyperchlorhidrosis	GPathogenic
Select item 18442	NM_001218.5(CA12):c.427G>A (p.Glu143Lys)	CA12 (E143K +1 more)	Single nucleotide variant (missense variant +1 more)	Isolated hyperchlorhidrosis	GPathogenic