1512[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic
Select item 147654	GRCh38/hg38 1q23.2(chr1:160059626-160217512)x3	ATP1A2, ATP1A4 +18 more	Copy number gain	See cases	GBenign
Select item 744353	NM_001231.5(CASQ1):c.2T>A (p.Met1Lys)	CASQ1 (M1K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2105515	NM_001231.5(CASQ1):c.3G>A (p.Met1Ile)	CASQ1 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1945307	NM_001231.5(CASQ1):c.10A>G (p.Thr4Ala)	CASQ1 (T4A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1937954	NM_001231.5(CASQ1):c.15C>G (p.Asp5Glu)	CASQ1 (D5E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2826417	NM_001231.5(CASQ1):c.16A>G (p.Arg6Gly)	CASQ1 (R6G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984165	NM_001231.5(CASQ1):c.17G>A (p.Arg6Lys)	CASQ1 (R6K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2880745	NM_001231.5(CASQ1):c.22G>A (p.Gly8Arg)	CASQ1 (G8R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1431011	NM_001231.5(CASQ1):c.26C>A (p.Pro9His)	CASQ1 (P9H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 716832	NM_001231.5(CASQ1):c.27C>A (p.Pro9=)	CASQ1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1984853	NM_001231.5(CASQ1):c.33T>C (p.Ala11=)	CASQ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2076216	NM_001231.5(CASQ1):c.38C>T (p.Pro13Leu)	CASQ1 (P13L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2754749	NM_001231.5(CASQ1):c.39G>C (p.Pro13=)	CASQ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1600207	NM_001231.5(CASQ1):c.39G>A (p.Pro13=)	CASQ1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2439764	NM_001231.5(CASQ1):c.46del (p.Arg16fs)	CASQ1 (R16fs)	Deletion (frameshift variant)	Myopathy due to calsequestrin and SERCA1 protein overload	GUncertain significance
Select item 1512470	NM_001231.5(CASQ1):c.46C>T (p.Arg16Trp)	CASQ1 (R16W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2892314	NM_001231.5(CASQ1):c.47G>A (p.Arg16Gln)	CASQ1 (R16Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2817444	NM_001231.5(CASQ1):c.48G>C (p.Arg16=)	CASQ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2002076	NM_001231.5(CASQ1):c.87G>C (p.Lys29Asn)	CASQ1 (K29N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1438875	NM_001231.5(CASQ1):c.89C>A (p.Ser30Ter)	CASQ1 (S30*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2788075	NM_001231.5(CASQ1):c.100G>A (p.Gly34Arg)	CASQ1 (G34R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969306	NM_001231.5(CASQ1):c.103C>A (p.Gln35Lys)	CASQ1 (Q35K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1568045	NM_001231.5(CASQ1):c.112C>T (p.Leu38=)	CASQ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2747235	NM_001231.5(CASQ1):c.115del (p.Asp39fs)	CASQ1 (D39fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 429369	NM_001231.5(CASQ1):c.118T>C (p.Phe40Leu)	CASQ1 (F40L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1991239	NM_001231.5(CASQ1):c.122C>T (p.Pro41Leu)	CASQ1 (P41L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1589858	NM_001231.5(CASQ1):c.129C>T (p.Tyr43=)	CASQ1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 715941	NM_001231.5(CASQ1):c.130G>A (p.Asp44Asn)	CASQ1 (D44N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1608734	NM_001231.5(CASQ1):c.134G>A (p.Gly45Asp)	CASQ1 (G45D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1560538	NM_001231.5(CASQ1):c.134G>T (p.Gly45Val)	CASQ1 (G45V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1468524	NM_001231.5(CASQ1):c.138G>A (p.Val46=)	CASQ1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2439766	NM_001231.5(CASQ1):c.142C>T (p.Arg48Cys)	CASQ1 (R48C)	Single nucleotide variant (missense variant)	Myopathy due to calsequestrin and SERCA1 protein overload	GUncertain significance
Select item 1371281	NM_001231.5(CASQ1):c.143G>A (p.Arg48His)	CASQ1 (R48H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1776115	NM_001231.5(CASQ1):c.159T>C (p.Asn53=)	CASQ1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1302432	NM_001231.5(CASQ1):c.165G>T (p.Lys55Asn)	CASQ1 (K55N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3233253	NM_001231.5(CASQ1):c.166A>T (p.Asn56Tyr)	CASQ1 (N56Y)	Single nucleotide variant (missense variant)	Myopathy with tubular aggregates	GPathogenic
Select item 2639496	NM_001231.5(CASQ1):c.167del (p.Asn56fs)	CASQ1 (N56fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3263465	NM_001231.5(CASQ1):c.189G>C (p.Lys63Asn)	CASQ1 (K63N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2574548	NM_001231.5(CASQ1):c.197T>A (p.Val66Glu)	CASQ1 (V66E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1785700	NM_001231.5(CASQ1):c.208C>G (p.Leu70Val)	CASQ1 (L70V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 788843	NM_001231.5(CASQ1):c.215A>G (p.His72Arg)	CASQ1 (H72R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1354926	NM_001231.5(CASQ1):c.221C>T (p.Pro74Leu)	CASQ1 (P74L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1788582	NM_001231.5(CASQ1):c.225C>T (p.Pro75=)	CASQ1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 721560	NM_001231.5(CASQ1):c.226G>A (p.Glu76Lys)	CASQ1 (E76K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1469127	NM_001231.5(CASQ1):c.229G>C (p.Asp77His)	CASQ1 (D77H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1955991	NM_001231.5(CASQ1):c.230A>T (p.Asp77Val)	CASQ1 (D77V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871904	NM_001231.5(CASQ1):c.234C>G (p.Asp78Glu)	CASQ1 (D78E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1629304	NM_001231.5(CASQ1):c.234C>T (p.Asp78=)	CASQ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 728846	NM_001231.5(CASQ1):c.237G>A (p.Lys79=)	CASQ1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2104307	NM_001231.5(CASQ1):c.239C>T (p.Ala80Val)	CASQ1 (A80V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2013112	NM_001231.5(CASQ1):c.244C>T (p.Gln82Ter)	CASQ1 (Q82*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2410633	NM_001231.5(CASQ1):c.254T>C (p.Phe85Ser)	CASQ1 (F85S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1625631	NM_001231.5(CASQ1):c.260T>C (p.Met87Thr)	CASQ1 (M87T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1395851	NM_001231.5(CASQ1):c.265G>A (p.Glu89Lys)	CASQ1 (E89K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013897	NM_001231.5(CASQ1):c.268C>T (p.Leu90=)	CASQ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994511	NM_001231.5(CASQ1):c.277G>A (p.Glu93Lys)	CASQ1 (E93K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2038090	NM_001231.5(CASQ1):c.279+1G>A	CASQ1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2959924	NM_001231.5(CASQ1):c.279+6T>A	CASQ1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1402352	NM_001231.5(CASQ1):c.279+6T>C	CASQ1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1636294	NM_001231.5(CASQ1):c.280-20A>G	CASQ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1561057	NM_001231.5(CASQ1):c.280-20A>T	CASQ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1563637	NM_001231.5(CASQ1):c.280-13T>C	CASQ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2820477	NM_001231.5(CASQ1):c.280-4C>T	CASQ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2178760	NM_001231.5(CASQ1):c.280-3_280-2del	CASQ1	Deletion (splice acceptor variant)	not provided	GUncertain significance
Select item 732718	NM_001231.5(CASQ1):c.280-1G>C	CASQ1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely benign
Select item 1308137	NM_001231.5(CASQ1):c.283G>A (p.Ala95Thr)	CASQ1 (A95T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1330246	NM_001231.5(CASQ1):c.298G>A (p.Glu100Lys)	CASQ1 (E100K)	Single nucleotide variant (missense variant)	Myopathy due to calsequestrin and SERCA1 protein overload	GUncertain significance
Select item 1549336	NM_001231.5(CASQ1):c.306G>A (p.Lys102=)	CASQ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2171443	NM_001231.5(CASQ1):c.307G>A (p.Gly103Ser)	CASQ1 (G103S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3233252	NM_001231.5(CASQ1):c.308G>A (p.Gly103Asp)	CASQ1 (G103D)	Single nucleotide variant (missense variant)	Myopathy with tubular aggregates	GPathogenic
Select item 2846395	NM_001231.5(CASQ1):c.315C>T (p.Gly105=)	CASQ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955733	NM_001231.5(CASQ1):c.318C>T (p.Phe106=)	CASQ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2101903	NM_001231.5(CASQ1):c.319G>C (p.Gly107Arg)	CASQ1 (G107R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1987355	NM_001231.5(CASQ1):c.319G>A (p.Gly107Arg)	CASQ1 (G107R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2897434	NM_001231.5(CASQ1):c.321G>A (p.Gly107=)	CASQ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2737712	NM_001231.5(CASQ1):c.321G>C (p.Gly107=)	CASQ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1578126	NM_001231.5(CASQ1):c.333T>C (p.Ser111=)	CASQ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1347830	NM_001231.5(CASQ1):c.334G>A (p.Glu112Lys)	CASQ1 (E112K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1394035	NM_001231.5(CASQ1):c.338A>G (p.Lys113Arg)	CASQ1 (K113R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 426285	NM_001231.5(CASQ1):c.341A>G (p.Asp114Gly)	CASQ1 (D114G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2077738	NM_001231.5(CASQ1):c.344C>T (p.Ala115Val)	CASQ1 (A115V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1399019	NM_001231.5(CASQ1):c.364+5G>C	CASQ1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 761850	NM_001231.5(CASQ1):c.364+8A>T	CASQ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 716050	NM_001231.5(CASQ1):c.364+9G>T	CASQ1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1538067	NM_001231.5(CASQ1):c.364+15G>A	CASQ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1967688	NM_001231.5(CASQ1):c.364+17C>T	CASQ1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1536157	NM_001231.5(CASQ1):c.364+17C>A	CASQ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1598410	NM_001231.5(CASQ1):c.365-31_365-7del	CASQ1	Deletion (intron variant)	not provided	GBenign
Select item 1508598	NM_001231.5(CASQ1):c.365-20_365-19delinsAA	CASQ1	Indel (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3336223	NM_001231.5(CASQ1):c.365-19C>A	CASQ1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1659741	NM_001231.5(CASQ1):c.365-18G>A	CASQ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008830	NM_001231.5(CASQ1):c.365-15C>T	CASQ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1914073	NM_001231.5(CASQ1):c.365-11T>A	CASQ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2503217	NM_001231.5(CASQ1):c.365-2A>T	CASQ1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2785384	NM_001231.5(CASQ1):c.366C>T (p.Gly122=)	CASQ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2562083	NM_001231.5(CASQ1):c.376G>A (p.Val126Met)	CASQ1 (V126M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2988065	NM_001231.5(CASQ1):c.384C>T (p.Ser128=)	CASQ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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