23155[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +332 more	Copy number loss	See cases	GPathogenic
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 545138	NC_000001.11:g.(?_103175204)_(111410059_?)del	AHCYL1, AKNAD1 +242 more	Deletion	Autism	GLikely pathogenic
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LOC129388571, LOC129388572 +563 more	Copy number gain	See cases	GPathogenic
Select item 154693	GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1	ADORA3, AHCYL1 +274 more	Copy number loss	See cases	GPathogenic
Select item 60009	GRCh38/hg38 1p21.1-13.3(chr1:106074587-110144290)x1	AHCYL1, AKNAD1 +148 more	Copy number loss	See cases	GPathogenic
Select item 146897	GRCh38/hg38 1p13.3(chr1:108807502-109134584)x3	AKNAD1, CFAP276 +21 more	Copy number gain	See cases	GUncertain significance
Select item 873668	NM_001377458.1(CLCC1):c.*2856T>C	CLCC1, GPSM2	Single nucleotide variant (3 prime UTR variant +2 more)	Chudley-McCullough syndrome	GUncertain significance
Select item 163641	NM_001377458.1(CLCC1):c.*2854T>C	CLCC1, GPSM2	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +3 more	GBenign/Likely benign
Select item 163642	NM_013296.5(GPSM2):c.1820C>T (p.Ser607Phe)	CLCC1, GPSM2 (S607F)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 3054619	NM_013296.5(GPSM2):c.1821C>T (p.Ser607=)	CLCC1, GPSM2	Single nucleotide variant (3 prime UTR variant +2 more)	GPSM2-related disorder	GLikely benign
Select item 1472245	NM_013296.5(GPSM2):c.1870C>T (p.Pro624Ser)	CLCC1, GPSM2 (P624S)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1209148	NM_013296.5(GPSM2):c.1871C>T (p.Pro624Leu)	CLCC1, GPSM2 (P624L)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 505173	NM_013296.5(GPSM2):c.1872G>A (p.Pro624=)	CLCC1, GPSM2	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 163643	NM_013296.5(GPSM2):c.1876G>C (p.Val626Leu)	CLCC1, GPSM2 (V626L)	Single nucleotide variant (3 prime UTR variant +2 more)	Hearing impairment +1 more	GUncertain significance
Select item 211100	NM_013296.5(GPSM2):c.1909C>T (p.Arg637Trp)	CLCC1, GPSM2 (R637W)	Single nucleotide variant (3 prime UTR variant +2 more)	GPSM2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 291709	NM_013296.5(GPSM2):c.1910G>A (p.Arg637Gln)	CLCC1, GPSM2 (R637Q)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GUncertain significance
Select item 2432254	NM_013296.5(GPSM2):c.1941_1942del (p.Arg647fs)	CLCC1, GPSM2 (R647fs)	Microsatellite (3 prime UTR variant +2 more)	Chudley-McCullough syndrome	GUncertain significance
Select item 1930748	NM_013296.5(GPSM2):c.1972_1973dup (p.Asp659fs)	CLCC1, GPSM2 (D659fs)	Microsatellite (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3029986	NM_013296.5(GPSM2):c.1983G>C (p.Gly661=)	CLCC1, GPSM2	Single nucleotide variant (3 prime UTR variant +2 more)	GPSM2-related disorder	GLikely benign
Select item 1336274	NM_013296.5(GPSM2):c.2004T>G (p.Asn668Lys)	CLCC1, GPSM2 (N668K)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +1 more	GUncertain significance
Select item 2542676	NM_013296.5(GPSM2):c.2006A>C (p.Asn669Thr)	CLCC1, GPSM2 (N669T)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 291710	NM_013296.5(GPSM2):c.2040A>G (p.Lys680=)	CLCC1, GPSM2	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1800492	NM_013296.5(GPSM2):c.2041T>C (p.Ser681Pro)	CLCC1, GPSM2 (S681P)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1690702	NM_013296.5(GPSM2):c.2042C>T (p.Ser681Leu)	CLCC1, GPSM2 (S681L)	Single nucleotide variant (3 prime UTR variant +2 more)	See cases +1 more	GUncertain significance
Select item 45566	NM_013296.5(GPSM2):c.2043G>A (p.Ser681=)	CLCC1, GPSM2	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 386577	NM_001377458.1(CLCC1):c.*2600A>G	CLCC1, GPSM2	Single nucleotide variant (3 prime UTR variant +1 more)	GPSM2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 874649	NM_001377458.1(CLCC1):c.*2399T>C	CLCC1, GPSM2	Single nucleotide variant (3 prime UTR variant +2 more)	Chudley-McCullough syndrome	GUncertain significance
Select item 291711	NM_001377458.1(CLCC1):c.*2396C>T	CLCC1, GPSM2	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GBenign
Select item 291712	NM_001377458.1(CLCC1):c.*2356A>G	CLCC1, GPSM2	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GBenign
Select item 291713	NM_001377458.1(CLCC1):c.*2285A>G	CLCC1, GPSM2	Single nucleotide variant (3 prime UTR variant +2 more)	Chudley-McCullough syndrome	GUncertain significance
Select item 874650	NM_001377458.1(CLCC1):c.*2256G>A	CLCC1, GPSM2	Single nucleotide variant (3 prime UTR variant +2 more)	Chudley-McCullough syndrome	GUncertain significance
Select item 875592	NM_001377458.1(CLCC1):c.*2248A>C	CLCC1, GPSM2	Single nucleotide variant (3 prime UTR variant +2 more)	Chudley-McCullough syndrome	GLikely benign
Select item 291714	NM_001377458.1(CLCC1):c.*2152G>A	CLCC1, GPSM2	Single nucleotide variant (3 prime UTR variant +2 more)	Chudley-McCullough syndrome	GBenign
Select item 291716	NM_001377458.1(CLCC1):c.*2140C>A	CLCC1, GPSM2	Single nucleotide variant (3 prime UTR variant +2 more)	Chudley-McCullough syndrome	GUncertain significance
Select item 291715	NM_001377458.1(CLCC1):c.*2139dup	CLCC1, GPSM2	Duplication (3 prime UTR variant +2 more)	Nonsyndromic Hearing Loss, Recessive	GUncertain significance
Select item 291717	NM_001377458.1(CLCC1):c.*2139A>C	CLCC1, GPSM2	Single nucleotide variant (3 prime UTR variant +2 more)	Chudley-McCullough syndrome	GUncertain significance
Select item 875593	NM_001377458.1(CLCC1):c.*2133A>G	CLCC1, GPSM2	Single nucleotide variant (3 prime UTR variant +2 more)	Chudley-McCullough syndrome	GUncertain significance
Select item 2067851	NM_001377458.1(CLCC1):c.1651G>A (p.Gly551Ser)	CLCC1 (G501S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1627827	NM_001377458.1(CLCC1):c.1635G>T (p.Pro545=)	CLCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1623206	NM_001377458.1(CLCC1):c.1635G>A (p.Pro545=)	CLCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1161389	NM_001377458.1(CLCC1):c.1635G>C (p.Pro545=)	CLCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 942625	NM_001377458.1(CLCC1):c.1634C>T (p.Pro545Leu)	CLCC1 (P424L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3001373	NM_001377458.1(CLCC1):c.1620A>T (p.Pro540=)	CLCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1713597	NM_001377458.1(CLCC1):c.1618C>T (p.Pro540Ser)	CLCC1 (P419S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2417830	NM_001377458.1(CLCC1):c.1607G>T (p.Gly536Val)	CLCC1 (G351V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 941475	NM_001377458.1(CLCC1):c.1606G>C (p.Gly536Arg)	CLCC1 (G351R +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1474744	NM_001377458.1(CLCC1):c.1600G>C (p.Ala534Pro)	CLCC1 (A534P +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 845469	NM_001377458.1(CLCC1):c.1600G>A (p.Ala534Thr)	CLCC1 (A484T +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1143487	NM_001377458.1(CLCC1):c.1599C>T (p.Pro533=)	CLCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1083371	NM_001377458.1(CLCC1):c.1596C>T (p.Ser532=)	CLCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1360723	NM_001377458.1(CLCC1):c.1595G>C (p.Ser532Thr)	CLCC1 (S347T +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1414324	NM_001377458.1(CLCC1):c.1594A>G (p.Ser532Gly)	CLCC1 (S347G +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1004982	NM_001377458.1(CLCC1):c.1564G>A (p.Ala522Thr)	CLCC1 (A337T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2714294	NM_001377458.1(CLCC1):c.1563C>T (p.Ala521=)	CLCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1608003	NM_001377458.1(CLCC1):c.1563C>A (p.Ala521=)	CLCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1160895	NM_001377458.1(CLCC1):c.1556C>G (p.Ser519Cys)	CLCC1 (S334C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1056738	NM_001377458.1(CLCC1):c.1556C>A (p.Ser519Tyr)	CLCC1 (S334Y +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1503696	NM_001377458.1(CLCC1):c.1543G>T (p.Ala515Ser)	CLCC1 (A394S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1093722	NM_001377458.1(CLCC1):c.1542G>A (p.Lys514=)	CLCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1922166	NM_001377458.1(CLCC1):c.1541A>C (p.Lys514Thr)	CLCC1 (K329T +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2072415	NM_001377458.1(CLCC1):c.1536G>A (p.Ala512=)	CLCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1405434	NM_001377458.1(CLCC1):c.1535C>T (p.Ala512Val)	CLCC1 (A327V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2262835	NM_001377458.1(CLCC1):c.1531G>A (p.Ala511Thr)	CLCC1 (A511T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1093068	NM_001377458.1(CLCC1):c.1530C>T (p.Pro510=)	CLCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 858845	NM_001377458.1(CLCC1):c.1519G>C (p.Glu507Gln)	CLCC1 (E410Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1930468	NM_001377458.1(CLCC1):c.1518A>G (p.Thr506=)	CLCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1617256	NM_001377458.1(CLCC1):c.1488T>C (p.Pro496=)	CLCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1122618	NM_001377458.1(CLCC1):c.1486C>G (p.Pro496Ala)	CLCC1 (P311A +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1654533	NM_001377458.1(CLCC1):c.1482C>T (p.Ala494=)	CLCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1086766	NM_001377458.1(CLCC1):c.1480G>A (p.Ala494Thr)	CLCC1 (A309T +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1643877	NM_001377458.1(CLCC1):c.1479G>A (p.Ser493=)	CLCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1167893	NM_001377458.1(CLCC1):c.1478C>T (p.Ser493Leu)	CLCC1 (S308L +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1146331	NM_001377458.1(CLCC1):c.1464T>G (p.Thr488=)	CLCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1716771	NM_001377458.1(CLCC1):c.1461T>G (p.Ser487Arg)	CLCC1 (S302R +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1022715	NM_001377458.1(CLCC1):c.1454A>C (p.Glu485Ala)	CLCC1 (E300A +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1097805	NM_001377458.1(CLCC1):c.1449G>A (p.Pro483=)	CLCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 835612	NM_001377458.1(CLCC1):c.1448C>T (p.Pro483Leu)	CLCC1 (P298L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1094062	NM_001377458.1(CLCC1):c.1432C>T (p.Leu478=)	CLCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1024886	NM_001377458.1(CLCC1):c.1408A>C (p.Lys470Gln)	CLCC1 (K285Q +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2475505	NM_001377458.1(CLCC1):c.1406C>T (p.Thr469Ile)	CLCC1 (T348I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2066059	NM_001377458.1(CLCC1):c.1397T>C (p.Val466Ala)	CLCC1 (V466A +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1899208	NM_001377458.1(CLCC1):c.1391C>T (p.Ser464Leu)	CLCC1 (S367L +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 957943	NM_001377458.1(CLCC1):c.1385A>G (p.His462Arg)	CLCC1 (H277R +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2782212	NM_001377458.1(CLCC1):c.1384-8_1384-4dup	CLCC1	Duplication (intron variant)	not provided	GLikely benign
Select item 2055914	NM_001377458.1(CLCC1):c.1384-3T>C	CLCC1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1135571	NM_001377458.1(CLCC1):c.1384-5T>C	CLCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2038493	NM_001377458.1(CLCC1):c.1384-17A>G	CLCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2787507	NM_001377458.1(CLCC1):c.1384-19G>A	CLCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1377947	NM_001377458.1(CLCC1):c.1381A>G (p.Ser461Gly)	CLCC1 (S411G +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1135828	NM_001377458.1(CLCC1):c.1377A>G (p.Val459=)	CLCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1383867	NM_001377458.1(CLCC1):c.1370C>T (p.Thr457Met)	CLCC1 (T336M +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1107792	NM_001377458.1(CLCC1):c.1362G>A (p.Glu454=)	CLCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3145381	NM_001377458.1(CLCC1):c.1358G>A (p.Arg453Gln)	CLCC1 (R453Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2268062	NM_001377458.1(CLCC1):c.1348G>A (p.Ala450Thr)	CLCC1 (A265T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1085794	NM_001377458.1(CLCC1):c.1347C>T (p.Asp449=)	CLCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1649833	NM_001377458.1(CLCC1):c.1338T>C (p.Asp446=)	CLCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 967097	NM_001377458.1(CLCC1):c.1328G>A (p.Arg443Gln)	CLCC1 (R409Q +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 843901	NM_001377458.1(CLCC1):c.1327C>T (p.Arg443Trp)	CLCC1 (R258W +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1974227	NM_001377458.1(CLCC1):c.1316C>G (p.Pro439Arg)	CLCC1 (P254R +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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