C0342345[trait identifier] AND "Labcorp Genetics (formerly Invitae), L - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1167241	NC_000003.12:g.122183002G>A	CASR	Single nucleotide variant	Familial hypocalciuric hypercalcemia +1 more	GBenign
Select item 2203412	NM_000388.4(CASR):c.2T>G (p.Met1Arg)	CASR (M1R)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant hypocalcemia 1 +1 more	GPathogenic
Select item 2035301	NM_000388.4(CASR):c.2T>C (p.Met1Thr)	CASR (M1T)	Single nucleotide variant (missense variant +1 more)	Familial hypocalciuric hypercalcemia +1 more	GPathogenic/Likely pathogenic
Select item 342795	NM_000388.4(CASR):c.6A>C (p.Ala2=)	CASR	Single nucleotide variant (synonymous variant)	Autosomal dominant hypocalcemia 1 +7 more	GConflicting classifications of pathogenicity
Select item 861221	NM_000388.4(CASR):c.9T>G (p.Phe3Leu)	CASR (F3L)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +1 more	GUncertain significance
Select item 583113	NM_000388.4(CASR):c.10T>C (p.Tyr4His)	CASR (Y4H)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +2 more	GUncertain significance
Select item 567686	NM_000388.4(CASR):c.11A>G (p.Tyr4Cys)	CASR (Y4C)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia 1 +3 more	GUncertain significance
Select item 2948680	NM_000388.4(CASR):c.15_16delinsGG (p.Ser5_Cys6delinsArgGly)	CASR	Indel (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 568920	NM_000388.4(CASR):c.16T>G (p.Cys6Gly)	CASR (C6G)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +2 more	GUncertain significance
Select item 1515860	NM_000388.4(CASR):c.20G>C (p.Cys7Ser)	CASR (C7S)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 851352	NM_000388.4(CASR):c.20G>A (p.Cys7Tyr)	CASR (C7Y)	Single nucleotide variant (missense variant)	Neonatal severe primary hyperparathyroidism +4 more	GUncertain significance
Select item 841527	NM_000388.4(CASR):c.20G>T (p.Cys7Phe)	CASR (C7F)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +1 more	GUncertain significance
Select item 1559189	NM_000388.4(CASR):c.21C>T (p.Cys7=)	CASR	Single nucleotide variant (synonymous variant)	Autosomal dominant hypocalcemia 1 +1 more	GLikely benign
Select item 2050610	NM_000388.4(CASR):c.25G>T (p.Val9Phe)	CASR (V9F)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +2 more	GUncertain significance
Select item 2944255	NM_000388.4(CASR):c.26T>A (p.Val9Asp)	CASR (V9D)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +1 more	GUncertain significance
Select item 696697	NM_000388.4(CASR):c.27C>T (p.Val9=)	CASR	Single nucleotide variant (synonymous variant)	Familial hypocalciuric hypercalcemia +6 more	GBenign/Likely benign
Select item 844919	NM_000388.4(CASR):c.28C>T (p.Leu10Phe)	CASR (L10F)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +2 more	GUncertain significance
Select item 577870	NM_000388.4(CASR):c.28C>A (p.Leu10Ile)	CASR (L10I)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +2 more	GUncertain significance
Select item 647813	NM_000388.4(CASR):c.32T>C (p.Leu11Ser)	CASR (L11S)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +8 more	GUncertain significance
Select item 653009	NM_000388.4(CASR):c.33G>A (p.Leu11=)	CASR	Single nucleotide variant (synonymous variant)	Familial hypocalciuric hypercalcemia +2 more	GConflicting classifications of pathogenicity
Select item 2952270	NM_000388.4(CASR):c.42_48del (p.Trp15fs)	CASR (W15fs)	Deletion (frameshift variant)	Familial hypocalciuric hypercalcemia +1 more	GPathogenic
Select item 463950	NM_000388.4(CASR):c.40A>G (p.Thr14Ala)	CASR (T14A)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +7 more	GConflicting classifications of pathogenicity
Select item 1036123	NM_000388.4(CASR):c.41C>A (p.Thr14Asn)	CASR (T14N)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 581679	NM_000388.4(CASR):c.41C>T (p.Thr14Ile)	CASR (T14I)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +1 more	GUncertain significance
Select item 1663236	NM_000388.4(CASR):c.42C>T (p.Thr14=)	CASR	Single nucleotide variant (synonymous variant)	Familial hypocalciuric hypercalcemia +2 more	GLikely benign
Select item 1959960	NM_000388.4(CASR):c.46C>T (p.His16Tyr)	CASR (H16Y)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 646655	NM_000388.4(CASR):c.50C>T (p.Thr17Ile)	CASR (T17I)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +5 more	GUncertain significance
Select item 1120889	NM_000388.4(CASR):c.51C>T (p.Thr17=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis +2 more	GLikely benign
Select item 1350047	NM_000388.4(CASR):c.53C>T (p.Ser18Phe)	CASR (S18F)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +5 more	GUncertain significance
Select item 729759	NM_000388.4(CASR):c.54T>G (p.Ser18=)	CASR	Single nucleotide variant (synonymous variant)	Familial hypocalciuric hypercalcemia 1 +5 more	GLikely benign
Select item 1018803	NM_000388.4(CASR):c.55G>C (p.Ala19Pro)	CASR (A19P)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 416109	NM_000388.4(CASR):c.57C>T (p.Ala19=)	CASR	Single nucleotide variant (synonymous variant)	Familial hypocalciuric hypercalcemia +3 more	GConflicting classifications of pathogenicity
Select item 285281	NM_000388.4(CASR):c.60C>T (p.Tyr20=)	CASR	Single nucleotide variant (synonymous variant)	Familial hypoparathyroidism +6 more	GConflicting classifications of pathogenicity
Select item 420105	NM_000388.4(CASR):c.61G>A (p.Gly21Arg)	CASR (G21R)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +3 more	GConflicting classifications of pathogenicity
Select item 1109209	NM_000388.4(CASR):c.63G>C (p.Gly21=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis +2 more	GLikely benign
Select item 1087627	NM_000388.4(CASR):c.63G>A (p.Gly21=)	CASR	Single nucleotide variant (synonymous variant)	Autosomal dominant hypocalcemia 1 +1 more	GLikely benign
Select item 1652129	NM_000388.4(CASR):c.66A>G (p.Pro22=)	CASR	Single nucleotide variant (synonymous variant)	Autosomal dominant hypocalcemia 1 +1 more	GLikely benign
Select item 1379485	NM_000388.4(CASR):c.67G>A (p.Asp23Asn)	CASR (D23N)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +2 more	GUncertain significance
Select item 2171040	NM_000388.4(CASR):c.70C>T (p.Gln24Ter)	CASR (Q24*)	Single nucleotide variant (nonsense)	Familial hypocalciuric hypercalcemia +1 more	GPathogenic
Select item 2927964	NM_000388.4(CASR):c.71A>G (p.Gln24Arg)	CASR (Q24R)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +2 more	GUncertain significance
Select item 372315	NM_000388.4(CASR):c.73C>T (p.Arg25Ter)	CASR (R25*)	Single nucleotide variant (nonsense)	CASR-related calcium metabolism disorders +7 more	GPathogenic/Likely pathogenic
Select item 1394090	NM_000388.4(CASR):c.74G>T (p.Arg25Leu)	CASR (R25L)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +2 more	GUncertain significance
Select item 463954	NM_000388.4(CASR):c.74G>A (p.Arg25Gln)	CASR (R25Q)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +6 more	GUncertain significance
Select item 1658107	NM_000388.4(CASR):c.75A>C (p.Arg25=)	CASR	Single nucleotide variant (synonymous variant)	Familial hypocalciuric hypercalcemia +2 more	GLikely benign
Select item 1761109	NM_000388.4(CASR):c.78C>A (p.Ala26=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis +2 more	GLikely benign
Select item 463956	NM_000388.4(CASR):c.78C>T (p.Ala26=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis +2 more	GLikely benign
Select item 193091	NM_000388.4(CASR):c.78C>G (p.Ala26=)	CASR	Single nucleotide variant (synonymous variant)	Familial hypoparathyroidism +7 more	GBenign
Select item 1762405	NM_000388.4(CASR):c.81A>G (p.Gln27=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis +2 more	GLikely benign
Select item 1623263	NM_000388.4(CASR):c.87G>A (p.Lys29=)	CASR	Single nucleotide variant (synonymous variant)	Familial hypocalciuric hypercalcemia +1 more	GLikely benign
Select item 2949036	NM_000388.4(CASR):c.88G>C (p.Gly30Arg)	CASR (G30R)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 447004	NM_000388.4(CASR):c.89G>A (p.Gly30Glu)	CASR (G30E)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +2 more	GUncertain significance
Select item 1115211	NM_000388.4(CASR):c.90G>A (p.Gly30=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis +2 more	GLikely benign
Select item 860702	NM_000388.4(CASR):c.90G>T (p.Gly30=)	CASR	Single nucleotide variant (synonymous variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2948228	NM_000388.4(CASR):c.91G>C (p.Asp31His)	CASR (D31H)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 1493852	NM_000388.4(CASR):c.94A>G (p.Ile32Val)	CASR (I32V)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 1037810	NM_000388.4(CASR):c.94A>T (p.Ile32Phe)	CASR (I32F)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2943313	NM_000388.4(CASR):c.97_98del (p.Ile33fs)	CASR (I33fs)	Deletion (frameshift variant)	Familial hypocalciuric hypercalcemia +1 more	GPathogenic
Select item 702619	NM_000388.4(CASR):c.96T>C (p.Ile32=)	CASR	Single nucleotide variant (synonymous variant)	Autosomal dominant hypocalcemia 1 +2 more	GLikely benign
Select item 662304	NM_000388.4(CASR):c.98T>G (p.Ile33Ser)	CASR (I33S)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +5 more	GConflicting classifications of pathogenicity
Select item 64440	NM_000388.4(CASR):c.99C>T (p.Ile33=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis +2 more	GLikely benign
Select item 585617	NM_000388.4(CASR):c.101T>C (p.Leu34Pro)	CASR (L34P)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 280657	NM_000388.4(CASR):c.108dup (p.Leu37fs)	CASR (L37fs)	Duplication (frameshift variant)	Autosomal dominant hypocalcemia 1 +6 more	GPathogenic
Select item 1716357	NM_000388.4(CASR):c.103G>T (p.Gly35Trp)	CASR (G35W)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +2 more	GUncertain significance
Select item 2133209	NM_000388.4(CASR):c.104G>A (p.Gly35Glu)	CASR (G35E)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 35774	NM_000388.4(CASR):c.106G>A (p.Gly36Arg)	CASR (G36R)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 583334	NM_000388.4(CASR):c.107G>T (p.Gly36Val)	CASR (G36V)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +2 more	GUncertain significance
Select item 744538	NM_000388.4(CASR):c.108G>A (p.Gly36=)	CASR	Single nucleotide variant (synonymous variant)	Familial hypoparathyroidism +5 more	GConflicting classifications of pathogenicity
Select item 2925355	NM_000388.4(CASR):c.110T>C (p.Leu37Pro)	CASR (L37P)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +1 more	GUncertain significance
Select item 1125614	NM_000388.4(CASR):c.111C>T (p.Leu37=)	CASR	Single nucleotide variant (synonymous variant)	Familial hypocalciuric hypercalcemia +1 more	GLikely benign
Select item 1460173	NM_000388.4(CASR):c.112_113insC (p.Phe38fs)	CASR (F38fs)	Insertion (frameshift variant)	Familial hypocalciuric hypercalcemia +1 more	GPathogenic
Select item 2947539	NM_000388.4(CASR):c.114T>A (p.Phe38Leu)	CASR (F38L)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +1 more	GUncertain significance
Select item 193090	NM_000388.4(CASR):c.114T>C (p.Phe38=)	CASR	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1055583	NM_000388.4(CASR):c.115C>T (p.Pro39Ser)	CASR (P39S)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +1 more	GUncertain significance
Select item 1741960	NM_000388.4(CASR):c.117T>G (p.Pro39=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis +2 more	GLikely benign
Select item 856702	NM_000388.4(CASR):c.118A>G (p.Ile40Val)	CASR (I40V)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia 1 +4 more	GUncertain significance
Select item 1719334	NM_000388.4(CASR):c.121C>A (p.His41Asn)	CASR (H41N)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +1 more	GUncertain significance
Select item 532640	NM_000388.4(CASR):c.123T>C (p.His41=)	CASR	Single nucleotide variant (synonymous variant)	Autosomal dominant hypocalcemia 1 +2 more	GLikely benign
Select item 532590	NM_000388.4(CASR):c.125T>C (p.Phe42Ser)	CASR (F42S)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +1 more	GUncertain significance
Select item 1019683	NM_000388.4(CASR):c.127G>A (p.Gly43Arg)	CASR (G43R)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 8 +4 more	GUncertain significance
Select item 1052340	NM_000388.4(CASR):c.130G>A (p.Val44Ile)	CASR (V44I)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 8 +5 more	GUncertain significance
Select item 1401670	NM_000388.4(CASR):c.131T>A (p.Val44Glu)	CASR (V44E)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +2 more	GUncertain significance
Select item 950657	NM_000388.4(CASR):c.134C>T (p.Ala45Val)	CASR (A45V)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +1 more	GUncertain significance
Select item 410327	NM_000388.4(CASR):c.134C>A (p.Ala45Glu)	CASR (A45E)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +3 more	GUncertain significance
Select item 2951839	NM_000388.4(CASR):c.142G>A (p.Asp48Asn)	CASR (D48N)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 532586	NM_000388.4(CASR):c.145C>G (p.Gln49Glu)	CASR (Q49E)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +3 more	GUncertain significance
Select item 1773519	NM_000388.4(CASR):c.147A>G (p.Gln49=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis +2 more	GLikely benign
Select item 1401236	NM_000388.4(CASR):c.149A>G (p.Asp50Gly)	CASR (D50G)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +1 more	GUncertain significance
Select item 968475	NM_000388.4(CASR):c.149A>T (p.Asp50Val)	CASR (D50V)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +2 more	GUncertain significance
Select item 956152	NM_000388.4(CASR):c.151C>T (p.Leu51Phe)	CASR (L51F)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +2 more	GUncertain significance
Select item 1716210	NM_000388.4(CASR):c.154A>G (p.Lys52Glu)	CASR (K52E)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 1775220	NM_000388.4(CASR):c.155A>T (p.Lys52Ile)	CASR (K52I)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +2 more	GUncertain significance
Select item 532606	NM_000388.4(CASR):c.155A>G (p.Lys52Arg)	CASR (K52R)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +1 more	GUncertain significance
Select item 1099131	NM_000388.4(CASR):c.156A>G (p.Lys52=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis +2 more	GLikely benign
Select item 1776072	NM_000388.4(CASR):c.159A>C (p.Ser53=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis +2 more	GLikely benign
Select item 1039012	NM_000388.4(CASR):c.162G>C (p.Arg54Ser)	CASR (R54S)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2130818	NM_000388.4(CASR):c.163C>T (p.Pro55Ser)	CASR (P55S)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 410326	NM_000388.4(CASR):c.164_165delinsTT (p.Pro55Leu)	CASR (P55L)	Indel (missense variant)	Autosomal dominant hypocalcemia 1 +1 more	GPathogenic
Select item 279731	NM_000388.4(CASR):c.164C>T (p.Pro55Leu)	CASR (P55L)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +3 more	GPathogenic
Select item 463910	NM_000388.4(CASR):c.165G>A (p.Pro55=)	CASR	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 35779	NM_000388.4(CASR):c.166del (p.Glu56fs)	CASR (E56fs)	Deletion (frameshift variant)	Autosomal dominant hypocalcemia 1 +1 more	GPathogenic

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