ClinVar for MedGen (Select 5705) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1334403	NM_001366521.1(ATP2B1):c.2938G>T (p.Val980Leu)	ATP2B1 (V793L +2 more)	Single nucleotide variant (missense variant)	Hypocalcemia +4 more	GLikely pathogenic
Select item 1334402	NM_001366521.1(ATP2B1):c.3060+2T>G	ATP2B1	Single nucleotide variant (splice donor variant)	Hypocalcemia +4 more	GLikely pathogenic
Select item 1328470	NM_000388.4(CASR):c.1589G>A (p.Trp530Ter)	CASR (W530*)	Single nucleotide variant (nonsense)	Hypocalcemia	GPathogenic
Select item 374113	NM_000516.7(GNAS):c.85C>T (p.Gln29Ter)	GNAS (Q29*)	Single nucleotide variant (nonsense +1 more)	Progressive osseous heteroplasia +16 more	GPathogenic
Select item 369382	NM_000388.4(CASR):c.-378del	CASR	Deletion (5 prime UTR variant)	Familial hypocalciuric hypercalcemia +3 more	GLikely benign
Select item 342809	NM_000388.4(CASR):c.*188dup	CASR	Duplication (3 prime UTR variant)	Familial hypoparathyroidism +3 more	GBenign
Select item 237772	NM_000388.4(CASR):c.762T>C (p.His254=)	CASR	Single nucleotide variant (synonymous variant)	Familial hypocalciuric hypercalcemia +6 more	GLikely benign

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