"PreventionGenetics, part of Exact Sciences"[submitter] AND "CASR"[gen - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 696697	NM_000388.4(CASR):c.27C>T (p.Val9=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis +6 more	GLikely benign
Select item 285281	NM_000388.4(CASR):c.60C>T (p.Tyr20=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis +7 more	GConflicting classifications of pathogenicity
Select item 2633924	NM_000388.4(CASR):c.64C>T (p.Pro22Ser)	CASR (P22S)	Single nucleotide variant (missense variant)	CASR-related disorder	GUncertain significance
Select item 463956	NM_000388.4(CASR):c.78C>T (p.Ala26=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis +3 more	GLikely benign
Select item 2629751	NM_000388.4(CASR):c.178T>C (p.Cys60Arg)	CASR (C60R)	Single nucleotide variant (missense variant)	CASR-related disorder	GUncertain significance
Select item 463920	NM_000388.4(CASR):c.220A>C (p.Met74Leu)	CASR (M74L)	Single nucleotide variant (missense variant)	not specified +8 more	GUncertain significance
Select item 532631	NM_000388.4(CASR):c.309C>T (p.Thr103=)	CASR	Single nucleotide variant (synonymous variant)	Autosomal dominant hypocalcemia 1 +3 more	GLikely benign
Select item 2630404	NM_000388.4(CASR):c.354C>G (p.Asn118Lys)	CASR (N118K)	Single nucleotide variant (missense variant)	CASR-related disorder	GLikely pathogenic
Select item 2634593	NM_000388.4(CASR):c.398A>T (p.Glu133Val)	CASR (E133V)	Single nucleotide variant (missense variant)	CASR-related disorder	GLikely pathogenic
Select item 8332	NM_000388.4(CASR):c.413C>T (p.Thr138Met)	CASR (T138M)	Single nucleotide variant (missense variant)	CASR-related disorder +7 more	GPathogenic/Likely pathogenic
Select item 257608	NM_000388.4(CASR):c.492+18G>C	CASR	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 35799	NM_000388.4(CASR):c.492+19G>A	CASR	Single nucleotide variant (intron variant)	Autosomal dominant hypocalcemia 1 +5 more	GBenign
Select item 2630391	NM_000388.4(CASR):c.517C>T (p.Leu173Phe)	CASR (L173F)	Single nucleotide variant (missense variant)	CASR-related disorder	GLikely pathogenic
Select item 257609	NM_000388.4(CASR):c.546T>A (p.Ser182=)	CASR	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 8314	NM_000388.4(CASR):c.554G>A (p.Arg185Gln)	CASR (R185Q)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic
Select item 2630477	NM_000388.4(CASR):c.580G>T (p.Ala194Ser)	CASR (A194S)	Single nucleotide variant (missense variant)	CASR-related disorder	GUncertain significance
Select item 60667	NM_000388.4(CASR):c.662C>T (p.Pro221Leu)	CASR (P221L)	Single nucleotide variant (missense variant)	Neonatal severe primary hyperparathyroidism +8 more	GPathogenic
Select item 8331	NM_000388.4(CASR):c.680G>A (p.Arg227Gln)	CASR (R227Q)	Single nucleotide variant (missense variant)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 8317	NM_000388.4(CASR):c.680G>T (p.Arg227Leu)	CASR (R227L)	Single nucleotide variant (missense variant)	CASR-related disorder +2 more	GPathogenic
Select item 463953	NM_000388.4(CASR):c.705C>A (p.Ile235=)	CASR	Single nucleotide variant (synonymous variant)	Familial hypocalciuric hypercalcemia +3 more	GLikely benign
Select item 963952	NM_000388.4(CASR):c.712G>A (p.Asp238Asn)	CASR (D238N)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +3 more	GUncertain significance
Select item 1319285	NM_000388.4(CASR):c.725T>C (p.Leu242Pro)	CASR (L242P)	Single nucleotide variant (missense variant)	CASR-related disorder +5 more	GUncertain significance
Select item 1424804	NM_000388.4(CASR):c.749A>G (p.Glu250Gly)	CASR (E250G)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +2 more	GUncertain significance
Select item 410355	NM_000388.4(CASR):c.848T>C (p.Ile283Thr)	CASR (I283T)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 416102	NM_000388.4(CASR):c.906C>T (p.Ser302=)	CASR	Single nucleotide variant (synonymous variant)	CASR-related disorder +5 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 463889	NM_000388.4(CASR):c.1014T>C (p.His338=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis +3 more	GLikely benign
Select item 703676	NM_000388.4(CASR):c.1044C>A (p.Ala348=)	CASR	Single nucleotide variant (synonymous variant)	CASR-related disorder +3 more	GLikely benign
Select item 1071747	NM_000388.4(CASR):c.1056G>A (p.Trp352Ter)	CASR (W352*)	Single nucleotide variant (nonsense)	CASR-related disorder +3 more	GPathogenic
Select item 696332	NM_000388.4(CASR):c.1164G>A (p.Ser388=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis +6 more	GBenign/Likely benign
Select item 237755	NM_000388.4(CASR):c.1188A>G (p.Thr396=)	CASR	Single nucleotide variant (synonymous variant)	Familial hypocalciuric hypercalcemia 1 +7 more	GConflicting classifications of pathogenicity
Select item 804658	NM_000388.4(CASR):c.1250C>G (p.Ser417Cys)	CASR (S417C)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 767369	NM_000388.4(CASR):c.1281T>C (p.Ile427=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis +3 more	GLikely benign
Select item 237756	NM_000388.4(CASR):c.1285C>T (p.His429Tyr)	CASR (H429Y)	Single nucleotide variant (missense variant)	not provided +7 more	GBenign/Likely benign
Select item 1472797	NM_000388.4(CASR):c.1288G>A (p.Ala430Thr)	CASR (A430T)	Single nucleotide variant (missense variant)	CASR-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 463897	NM_000388.4(CASR):c.1297G>C (p.Asp433His)	CASR (D433H)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia 1 +6 more	GConflicting classifications of pathogenicity
Select item 2632351	NM_000388.4(CASR):c.1301_1306del (p.Ile434_Tyr435del)	CASR	Microsatellite (inframe_deletion)	CASR-related disorder	GUncertain significance
Select item 35776	NM_000388.4(CASR):c.1333A>G (p.Thr445Ala)	CASR (T445A)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +6 more	GBenign/Likely benign
Select item 3058981	NM_000388.4(CASR):c.1378-21T>C	CASR	Single nucleotide variant (intron variant)	CASR-related disorder	GLikely benign
Select item 532613	NM_000388.4(CASR):c.1382T>A (p.Leu461Gln)	CASR (L461Q)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +2 more	GUncertain significance
Select item 257604	NM_000388.4(CASR):c.1491C>T (p.Ser497=)	CASR	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 1088146	NM_000388.4(CASR):c.1572C>T (p.Asn524=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis +3 more	GLikely benign
Select item 1328470	NM_000388.4(CASR):c.1589G>A (p.Trp530Ter)	CASR (W530*)	Single nucleotide variant (nonsense)	Hypocalcemia +1 more	GPathogenic
Select item 237757	NM_000388.4(CASR):c.1608+4G>T	CASR	Single nucleotide variant (intron variant)	Nephrolithiasis/nephrocalcinosis +3 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)	Familial hypocalciuric hypercalcemia 1 +9 more	GConflicting classifications of pathogenicity
Select item 1205777	NM_000388.4(CASR):c.1637G>A (p.Cys546Tyr)	CASR (C546Y +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +3 more	GUncertain significance
Select item 257605	NM_000388.4(CASR):c.1732+16T>C	CASR	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 257606	NM_000388.4(CASR):c.1733-9A>G	CASR	Single nucleotide variant (intron variant)	Autosomal dominant hypocalcemia 1 +5 more	GConflicting classifications of pathogenicity
Select item 2630473	NM_000388.4(CASR):c.1733-2A>C	CASR	Single nucleotide variant (splice acceptor variant)	CASR-related disorder	GLikely pathogenic
Select item 2598840	NM_000388.4(CASR):c.1733A>T (p.Asp578Val)	CASR (D578V +1 more)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +1 more	GUncertain significance
Select item 237759	NM_000388.4(CASR):c.1752G>A (p.Lys584=)	CASR	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +8 more	GConflicting classifications of pathogenicity
Select item 1115456	NM_000388.4(CASR):c.1788C>T (p.Thr596=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis +6 more	GLikely benign
Select item 8350	NM_000388.4(CASR):c.1810G>A (p.Glu604Lys)	CASR (E604K +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 463913	NM_000388.4(CASR):c.1827G>A (p.Thr609=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis +3 more	GLikely benign
Select item 410330	NM_000388.4(CASR):c.1913G>A (p.Arg638His)	CASR (R638H +1 more)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +6 more	GConflicting classifications of pathogenicity
Select item 2631252	NM_000388.4(CASR):c.1973T>C (p.Leu658Pro)	CASR (L658P +1 more)	Single nucleotide variant (missense variant)	CASR-related disorder	GUncertain significance
Select item 416101	NM_000388.4(CASR):c.2028G>A (p.Thr676=)	CASR	Single nucleotide variant (synonymous variant)	CASR-related disorder +3 more	GLikely benign
Select item 2630659	NM_000388.4(CASR):c.2089G>A (p.Val697Met)	CASR (V697M +1 more)	Single nucleotide variant (missense variant)	CASR-related disorder	GLikely pathogenic
Select item 2636276	NM_000388.4(CASR):c.2244delinsCC (p.Ser749fs)	CASR (S749fs +1 more)	Indel (frameshift variant)	CASR-related disorder	GLikely pathogenic
Select item 2925364	NM_000388.4(CASR):c.2282T>A (p.Ile761Asn)	CASR (I761N +1 more)	Single nucleotide variant (missense variant)	CASR-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 463919	NM_000388.4(CASR):c.2298C>T (p.His766=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis +3 more	GLikely benign
Select item 633483	NM_000388.4(CASR):c.2303G>T (p.Gly768Val)	CASR (G768V +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 752252	NM_000388.4(CASR):c.2355C>T (p.Ala785=)	CASR	Single nucleotide variant (synonymous variant)	Familial hypocalciuric hypercalcemia +3 more	GLikely benign
Select item 257607	NM_000388.4(CASR):c.2412C>T (p.Ala804=)	CASR	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 463929	NM_000388.4(CASR):c.2551T>A (p.Cys851Ser)	CASR (C851S +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +6 more	GUncertain significance
Select item 198070	NM_000388.4(CASR):c.2610G>A (p.Glu870=)	CASR	Single nucleotide variant (synonymous variant)	Familial hypoparathyroidism +7 more	GBenign/Likely benign
Select item 3031636	NM_000388.4(CASR):c.2627C>A (p.Thr876Asn)	CASR (T876N +1 more)	Single nucleotide variant (missense variant)	CASR-related disorder	GUncertain significance
Select item 2634311	NM_000388.4(CASR):c.2770_2777del (p.Phe924fs)	CASR (F924fs +1 more)	Deletion (frameshift variant)	CASR-related disorder	GPathogenic
Select item 416108	NM_000388.4(CASR):c.2769A>G (p.Pro923=)	CASR	Single nucleotide variant (synonymous variant)	CASR-related disorder +3 more	GLikely benign
Select item 64433	NM_000388.4(CASR):c.2777A>G (p.Gln926Arg)	CASR (Q926R +1 more)	Single nucleotide variant (missense variant)	CASR-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 1128137	NM_000388.4(CASR):c.2844G>A (p.Leu948=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis +6 more	GLikely benign
Select item 198073	NM_000388.4(CASR):c.2901C>A (p.Ile967=)	CASR	Single nucleotide variant (synonymous variant)	Autosomal dominant hypocalcemia 1 +4 more	GConflicting classifications of pathogenicity
Select item 8349	NM_000388.4(CASR):c.2956G>T (p.Ala986Ser)	CASR (A986S +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +6 more	GBenign
Select item 198071	NM_000388.4(CASR):c.2968A>G (p.Arg990Gly)	CASR (R990G +1 more)	Single nucleotide variant (missense variant)	Familial hypoparathyroidism +6 more	GBenign
Select item 841497	NM_000388.4(CASR):c.3025C>G (p.Arg1009Gly)	CASR (R1009G +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +3 more	GUncertain significance
Select item 342805	NM_000388.4(CASR):c.3168G>T (p.Val1056=)	CASR	Single nucleotide variant (synonymous variant)	Autosomal dominant hypocalcemia 1 +6 more	GConflicting classifications of pathogenicity
Select item 3054948	NM_000388.4(CASR):c.9_11del	CASR	Deletion (3 prime UTR variant)	CASR-related disorder	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 77