ClinVar for MedGen (Select 811594) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1177515	NM_000388.4(CASR):c.209G>A (p.Trp70Ter)	CASR (W70*)	Single nucleotide variant (nonsense)	Familial hypocalciuric hypercalcemia +1 more	GPathogenic
Select item 652572	NM_000388.4(CASR):c.2278A>T (p.Ile760Phe)	CASR (I760F +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 566469	NM_000388.4(CASR):c.494T>G (p.Val165Gly)	CASR (V165G)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +3 more	GUncertain significance
Select item 60669	NM_000388.4(CASR):c.85A>G (p.Lys29Glu)	CASR (K29E)	Single nucleotide variant (missense variant)	Bartter syndrome with hypocalcemia	GPathogenic
Select item 8346	NM_000388.4(CASR):c.374T>C (p.Leu125Pro)	CASR (L125P)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +5 more	GConflicting classifications of pathogenicity
Select item 8344	NM_000388.4(CASR):c.393C>G (p.Cys131Trp)	CASR (C131W)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 8343	NM_000388.4(CASR):c.2528C>A (p.Ala843Glu)	CASR (A843E +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1	GLikely pathogenic

ClinVar