"Sema4, Sema4"[submitter] AND "CASR"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 342795	NM_000388.4(CASR):c.6A>C (p.Ala2=)	CASR	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 1094513	NM_000388.4(CASR):c.201G>A (p.Gly67=)	CASR	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 1077561	NM_000388.4(CASR):c.738C>T (p.Tyr246=)	CASR	Single nucleotide variant (synonymous variant)	Neonatal severe primary hyperparathyroidism +6 more	GLikely benign
Select item 196262	NM_000388.4(CASR):c.748G>A (p.Glu250Lys)	CASR (E250K)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +9 more	GBenign/Likely benign
Select item 342796	NM_000388.4(CASR):c.915C>A (p.Ile305=)	CASR	Single nucleotide variant (synonymous variant)	Autosomal dominant hypocalcemia 1 +7 more	GBenign/Likely benign
Select item 64427	NM_000388.4(CASR):c.1192G>A (p.Asp398Asn)	CASR (D398N)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +5 more	GConflicting classifications of pathogenicity
Select item 237758	NM_000388.4(CASR):c.1631G>A (p.Arg544Gln)	CASR (R544Q +1 more)	Single nucleotide variant (missense variant)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 237759	NM_000388.4(CASR):c.1752G>A (p.Lys584=)	CASR	Single nucleotide variant (synonymous variant)	CASR-related condition +8 more	GConflicting classifications of pathogenicity
Select item 1692423	NM_000388.4(CASR):c.1799C>A (p.Ala600Asp)	CASR (A600D +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 237762	NM_000388.4(CASR):c.2064C>T (p.Phe688=)	CASR	Single nucleotide variant (synonymous variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 851685	NM_000388.4(CASR):c.2549C>G (p.Ala850Gly)	CASR (A860G +1 more)	Single nucleotide variant (missense variant)	Neonatal severe primary hyperparathyroidism +7 more	GUncertain significance
Select item 198072	NM_000388.4(CASR):c.2730C>A (p.Pro910=)	CASR	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 342801	NM_000388.4(CASR):c.2824G>A (p.Glu942Lys)	CASR (E942K +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +8 more	GBenign/Likely benign
Select item 532647	NM_000388.4(CASR):c.3234A>G (p.Ser1078=)	CASR	Single nucleotide variant (synonymous variant)	Autosomal dominant hypocalcemia 1 +6 more	GLikely benign