846[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	See cases	GPathogenic
Select item 153722	GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1	LOC129937275, LOC129937276 +286 more	Copy number loss	See cases	GPathogenic
Select item 146711	GRCh38/hg38 3q13.31-21.1(chr3:115019074-122513398)x1	LOC129937337, LOC129937338 +199 more	Copy number loss	See cases	GPathogenic
Select item 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	ADCY5, ADPRH +326 more	Copy number loss	See cases	GPathogenic
Select item 57806	GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1	LOC129937413, LOC129937414 +291 more	Copy number loss	See cases	GPathogenic
Select item 57829	GRCh38/hg38 3q13.33-21.2(chr3:121644209-125676353)x1	ADCY5, CASR +182 more	Copy number loss	See cases	GPathogenic
Select item 152210	GRCh38/hg38 3q13.33-21.3(chr3:121925147-126782249)x1	LOC129937447, LOC129937448 +214 more	Copy number loss	See cases	GPathogenic
Select item 1707450	Single allele	CASR, CSTA +45 more	Duplication	not specified	GUncertain significance
Select item 1167241	NC_000003.12:g.122183002G>A	CASR	Single nucleotide variant	Familial hypocalciuric hypercalcemia +1 more	GBenign
Select item 369382	NM_000388.4(CASR):c.-378del	CASR	Deletion (5 prime UTR variant)	Familial hypocalciuric hypercalcemia +3 more	GLikely benign
Select item 342792	NM_000388.4(CASR):c.-154T>A	CASR	Single nucleotide variant (5 prime UTR variant)	Familial hypoparathyroidism +3 more	GConflicting classifications of pathogenicity
Select item 899938	NM_000388.4(CASR):c.-137C>T	CASR	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant hypocalcemia 1 +3 more	GUncertain significance
Select item 342793	NM_000388.4(CASR):c.-137C>A	CASR	Single nucleotide variant (5 prime UTR variant)	Familial hypocalciuric hypercalcemia 1 +3 more	GUncertain significance
Select item 342794	NM_000388.4(CASR):c.-111C>A	CASR	Single nucleotide variant (5 prime UTR variant)	Familial hypocalciuric hypercalcemia 1 +3 more	GConflicting classifications of pathogenicity
Select item 431803	NM_000388.4(CASR):c.-10C>T	CASR	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant hypocalcemia 1 +4 more	GConflicting classifications of pathogenicity
Select item 3231581	NM_000388.4(CASR):c.-5G>A	CASR	Single nucleotide variant (5 prime UTR variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 3231566	NM_000388.4(CASR):c.-2C>T	CASR	Single nucleotide variant (5 prime UTR variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 1784165	NM_000388.4(CASR):c.1A>C (p.Met1Leu)	CASR (M1L)	Single nucleotide variant (missense variant +1 more)	Nephrolithiasis/nephrocalcinosis	GLikely pathogenic
Select item 1321411	NM_000388.4(CASR):c.1A>G (p.Met1Val)	CASR (M1V)	Single nucleotide variant (missense variant +1 more)	Familial hypocalciuric hypercalcemia	GLikely pathogenic
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 3263503	NM_000388.4(CASR):c.4G>A (p.Ala2Thr)	CASR (A2T)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
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 3231496	NM_000388.4(CASR):c.12T>C (p.Tyr4=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis	GLikely benign
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 1776134	NM_000388.4(CASR):c.15C>G (p.Ser5Arg)	CASR (S5R)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	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)	Autosomal dominant hypocalcemia 1 +1 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 1787584	NM_000388.4(CASR):c.21C>G (p.Cys7Trp)	CASR (C7W)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	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)	Autosomal dominant hypocalcemia 1 +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 3231576	NM_000388.4(CASR):c.36A>G (p.Ala12=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis	GLikely benign
Select item 8353	NM_000388.4(CASR):c.38T>C (p.Leu13Pro)	CASR (L13P)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
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)	Autosomal dominant hypocalcemia 1 +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 3067130	NM_000388.4(CASR):c.43T>G (p.Trp15Gly)	CASR (W15G)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +1 more	GUncertain significance
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 1743951	NM_000388.4(CASR):c.48C>T (p.His16=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis	GLikely benign
Select item 646655	NM_000388.4(CASR):c.50C>T (p.Thr17Ile)	CASR (T17I)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +2 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 3231580	NM_000388.4(CASR):c.59A>G (p.Tyr20Cys)	CASR (Y20C)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 285281	NM_000388.4(CASR):c.60C>T (p.Tyr20=)	CASR	Single nucleotide variant (synonymous variant)	Neonatal severe primary hyperparathyroidism +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)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1753331	NM_000388.4(CASR):c.63G>T (p.Gly21=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis	GLikely benign
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 2633924	NM_000388.4(CASR):c.64C>T (p.Pro22Ser)	CASR (P22S)	Single nucleotide variant (missense variant)	CASR-related disorder	GUncertain significance
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 3263500	NM_000388.4(CASR):c.69C>A (p.Asp23Glu)	CASR (D23E)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	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 2451443	NM_000388.4(CASR):c.73C>A (p.Arg25=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis	GLikely benign
Select item 372315	NM_000388.4(CASR):c.73C>T (p.Arg25Ter)	CASR (R25*)	Single nucleotide variant (nonsense)	Autosomal dominant hypocalcemia 1 +5 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)	not provided +3 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 3231591	NM_000388.4(CASR):c.84G>C (p.Lys28Asn)	CASR (K28N)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	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 1217243	NM_000388.4(CASR):c.91dup (p.Asp31fs)	CASR (D31fs)	Duplication (frameshift variant)	Familial hypocalciuric hypercalcemia	GLikely pathogenic
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 3231597	NM_000388.4(CASR):c.91G>A (p.Asp31Asn)	CASR (D31N)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	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 422666	NM_000388.4(CASR):c.92A>G (p.Asp31Gly)	CASR (D31G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3263497	NM_000388.4(CASR):c.93C>T (p.Asp31=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis	GLikely benign
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 2688720	NM_000388.4(CASR):c.95T>A (p.Ile32Asn)	CASR (I32N)	Single nucleotide variant (missense variant)	not provided	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

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