ClinVar for Gene (Select 1179) - ClinVar

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Links from Gene

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3145347	NM_001285.4(CLCA1):c.731A>G (p.Asp244Gly)	CLCA1 (D244G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145346	NM_001285.4(CLCA1):c.620C>T (p.Thr207Ile)	CLCA1 (T207I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145345	NM_001285.4(CLCA1):c.448C>A (p.Gln150Lys)	CLCA1 (Q150K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145343	NM_001285.4(CLCA1):c.2582G>A (p.Arg861Gln)	CLCA1 (R861Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3145342	NM_001285.4(CLCA1):c.2279A>G (p.Lys760Arg)	CLCA1 (K760R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145341	NM_001285.4(CLCA1):c.1873A>G (p.Ser625Gly)	CLCA1 (S625G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145340	NM_001285.4(CLCA1):c.1709C>T (p.Ala570Val)	CLCA1 (A570V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145339	NM_001285.4(CLCA1):c.1676C>T (p.Ala559Val)	CLCA1 (A559V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145338	NM_001285.4(CLCA1):c.15G>C (p.Lys5Asn)	CLCA1 (K5N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145337	NM_001285.4(CLCA1):c.1547C>G (p.Thr516Ser)	CLCA1 (T516S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145336	NM_001285.4(CLCA1):c.1172C>T (p.Ser391Leu)	CLCA1 (S391L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024572	GRCh37/hg19 1p31.1-22.3(chr1:73616197-87012961)x1	ACADM, ADGRL2 +52 more	Copy number loss	not provided	GLikely pathogenic
Select item 2623909	NM_001285.4(CLCA1):c.335C>T (p.Pro112Leu)	CLCA1 (P112L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623191	NM_001285.4(CLCA1):c.968T>C (p.Leu323Pro)	CLCA1 (L323P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617976	NM_001285.4(CLCA1):c.1247A>G (p.Asn416Ser)	CLCA1 (N416S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616663	NM_001285.4(CLCA1):c.349C>T (p.Pro117Ser)	CLCA1 (P117S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613285	NM_001285.4(CLCA1):c.2123A>G (p.Gln708Arg)	CLCA1 (Q708R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611613	NM_001285.4(CLCA1):c.1517T>A (p.Val506Glu)	CLCA1 (V506E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609348	NM_001285.4(CLCA1):c.2423A>T (p.Gln808Leu)	CLCA1 (Q808L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606134	NM_001285.4(CLCA1):c.498T>A (p.Phe166Leu)	CLCA1 (F166L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599744	NM_001285.4(CLCA1):c.1684G>A (p.Gly562Ser)	CLCA1 (G562S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556231	NM_001285.4(CLCA1):c.85A>C (p.Asn29His)	CLCA1 (N29H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543624	NM_001285.4(CLCA1):c.1735G>A (p.Val579Ile)	CLCA1 (V579I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543497	NM_001285.4(CLCA1):c.1322C>T (p.Ala441Val)	CLCA1 (A441V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529458	NM_001285.4(CLCA1):c.2639C>T (p.Thr880Met)	CLCA1 (T880M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521213	NM_001285.4(CLCA1):c.626G>T (p.Arg209Ile)	CLCA1 (R209I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474218	NM_001285.4(CLCA1):c.2278A>C (p.Lys760Gln)	CLCA1 (K760Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458532	NM_001285.4(CLCA1):c.1453C>T (p.Arg485Cys)	CLCA1 (R485C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404660	NM_001285.4(CLCA1):c.109G>A (p.Val37Ile)	CLCA1 (V37I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2381077	NM_001285.4(CLCA1):c.1790C>T (p.Thr597Met)	CLCA1 (T597M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2369142	NM_001285.4(CLCA1):c.1685G>A (p.Gly562Asp)	CLCA1 (G562D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367232	NM_001285.4(CLCA1):c.432A>T (p.Leu144Phe)	CLCA1 (L144F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365371	NM_001285.4(CLCA1):c.2057G>A (p.Arg686Gln)	CLCA1 (R686Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2361592	NM_001285.4(CLCA1):c.2068C>A (p.Pro690Thr)	CLCA1 (P690T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355703	NM_001285.4(CLCA1):c.1748C>T (p.Ala583Val)	CLCA1 (A583V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340712	NM_001285.4(CLCA1):c.1213T>C (p.Ser405Pro)	CLCA1 (S405P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338634	NM_001285.4(CLCA1):c.1819C>T (p.Pro607Ser)	CLCA1 (P607S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334685	NM_001285.4(CLCA1):c.388G>A (p.Glu130Lys)	CLCA1 (E130K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323532	NM_001285.4(CLCA1):c.1627G>T (p.Val543Leu)	CLCA1 (V543L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291325	NM_001285.4(CLCA1):c.726T>A (p.His242Gln)	CLCA1 (H242Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276874	NM_001285.4(CLCA1):c.1043C>T (p.Thr348Ile)	CLCA1 (T348I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275260	NM_001285.4(CLCA1):c.1360G>C (p.Gly454Arg)	CLCA1 (G454R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214374	NM_001285.4(CLCA1):c.15G>T (p.Lys5Asn)	CLCA1 (K5N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
Select item 1280597	NM_001285.4(CLCA1):c.2046C>G (p.Asn682Lys)	CLCA1 (N682K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 979897	GRCh37/hg19 1p31.1-22.2(chr1:80804502-89490384)x3	LMO4, CLCA4 +33 more	Copy number gain	not provided	GLikely pathogenic
Select item 783938	NM_001285.4(CLCA1):c.1825G>A (p.Val609Ile)	CLCA1 (V609I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 778233	NM_001285.4(CLCA1):c.2113+8A>G	CLCA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 732631	NM_001285.4(CLCA1):c.1910C>T (p.Thr637Ile)	CLCA1 (T637I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 709550	NM_001285.4(CLCA1):c.1981T>C (p.Tyr661His)	CLCA1 (Y661H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 684460	Single allele	ACADM, ADGRL2 +85 more	Deletion	not provided	Gnot provided
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442708	GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1	ACADM, ADGRL2 +94 more	Copy number loss	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 441908	GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1	ACADM, ADGRL2 +80 more	Copy number loss	See cases	GPathogenic
Select item 150045	GRCh38/hg38 1p31.1-22.2(chr1:76419302-88628464)x1	ADGRL2, ADGRL4 +241 more	Copy number loss	See cases	GPathogenic
Select item 149325	GRCh38/hg38 1p22.3-22.2(chr1:86228890-88466303)x1	CLCA1, CLCA2 +47 more	Copy number loss	See cases	GUncertain significance
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LOC129930966, LOC129930967 +548 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 59