14214[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 545227	Single allele	LOC130064626, LOC130064627 +215 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 60102	GRCh38/hg38 19q13.2-13.31(chr19:41930894-43141456)x1	ATP1A3, CEACAM1 +95 more	Copy number loss	See cases	GPathogenic
Select item 1064660	NC_000019.10:g.42032860_42297536del	CIC, DEDD2 +43 more	Deletion	Syndromic craniosynostosis	GPathogenic
Select item 2637209	NM_001386298.1(CIC):c.50G>T (p.Gly17Val)	CIC (G17V)	Single nucleotide variant (missense variant)	CIC-related disorder	GUncertain significance
Select item 2571046	NM_001386298.1(CIC):c.65C>T (p.Pro22Leu)	CIC (P22L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3353226	NM_001386298.1(CIC):c.92G>T (p.Arg31Leu)	CIC (R31L)	Single nucleotide variant (missense variant)	CIC-related disorder	GUncertain significance
Select item 915326	NM_001386298.1(CIC):c.92G>A (p.Arg31Gln)	CIC (R31Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 3066365	NM_001386298.1(CIC):c.94C>T (p.Arg32Ter)	CIC (R32*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 1805467	NM_001386298.1(CIC):c.111_112del (p.Asp38fs)	CIC (D38fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 45	GLikely pathogenic
Select item 2429415	NM_001386298.1(CIC):c.115A>C (p.Lys39Gln)	CIC (K39Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1686567	NM_001386298.1(CIC):c.133G>A (p.Asp45Asn)	CIC (D45N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2649942	NM_001386298.1(CIC):c.135C>T (p.Asp45=)	CIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1879442	NM_001386298.1(CIC):c.136G>A (p.Glu46Lys)	CIC (E46K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3038207	NM_001386298.1(CIC):c.162C>T (p.Ser54=)	CIC	Single nucleotide variant (synonymous variant)	CIC-related disorder	GLikely benign
Select item 3055109	NM_001386298.1(CIC):c.163G>A (p.Gly55Arg)	CIC (G55R)	Single nucleotide variant (missense variant)	CIC-related disorder	GUncertain significance
Select item 2649943	NM_001386298.1(CIC):c.176C>G (p.Ala59Gly)	CIC (A59G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025351	NM_001386298.1(CIC):c.198G>T (p.Glu66Asp)	CIC (E66D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2585385	NM_001386298.1(CIC):c.206G>A (p.Arg69Gln)	CIC (R69Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 1805295	NM_001386298.1(CIC):c.226C>A (p.Pro76Thr)	CIC (P76T)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 2649944	NM_001386298.1(CIC):c.249C>T (p.Gly83=)	CIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3348772	NM_001386298.1(CIC):c.250G>A (p.Asp84Asn)	CIC (D84N)	Single nucleotide variant (missense variant)	CIC-related disorder	GUncertain significance
Select item 2672768	NM_001386298.1(CIC):c.255G>A (p.Pro85=)	CIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1301614	NM_001386298.1(CIC):c.281A>G (p.Lys94Arg)	CIC (K94R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2635132	NM_001386298.1(CIC):c.288_293del (p.Asp96_Gly97del)	CIC	Deletion (inframe_deletion +1 more)	CIC-related disorder	GUncertain significance
Select item 2649945	NM_001386298.1(CIC):c.302G>A (p.Arg101His)	CIC (R101H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2649946	NM_001386298.1(CIC):c.305G>A (p.Trp102Ter)	CIC (W102*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3063655	NM_001386298.1(CIC):c.355AAG[2] (p.Lys121del)	CIC (K121del)	Microsatellite (inframe_deletion +2 more)	not specified	GUncertain significance
Select item 2672769	NM_001386298.1(CIC):c.394G>C (p.Gly132Arg)	CIC (G132R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1335346	NM_001386298.1(CIC):c.419G>A (p.Arg140Gln)	CIC (R140Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1184286	NM_001386298.1(CIC):c.425G>A (p.Arg142Gln)	CIC (R142Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 3050160	NM_001386298.1(CIC):c.471C>A (p.Pro157=)	CIC	Single nucleotide variant (synonymous variant)	CIC-related disorder	GLikely benign
Select item 2672770	NM_001386298.1(CIC):c.507C>T (p.Ser169=)	CIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649947	NM_001386298.1(CIC):c.519G>A (p.Ala173=)	CIC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3026241	NM_001386298.1(CIC):c.543G>T (p.Glu181Asp)	CIC (E181D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1694922	NM_001386298.1(CIC):c.565C>A (p.Pro189Thr)	CIC (P189T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1335347	NM_001386298.1(CIC):c.572G>A (p.Gly191Asp)	CIC (G191D)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 983341	NM_001386298.1(CIC):c.577A>T (p.Thr193Ser)	CIC (T193S)	Single nucleotide variant (missense variant)	Intellectual disability +2 more	GConflicting classifications of pathogenicity
Select item 1683575	NM_001386298.1(CIC):c.594C>T (p.Asp198=)	CIC	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 2649948	NM_001386298.1(CIC):c.616C>T (p.Arg206Trp)	CIC (R206W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024217	NM_001386298.1(CIC):c.632G>A (p.Arg211His)	CIC (R211H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 3370339	NM_001386298.1(CIC):c.638_640del (p.Asp213del)	CIC (D213del)	Deletion (inframe_deletion)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 2649949	NM_001386298.1(CIC):c.654G>A (p.Pro218=)	CIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649950	NM_001386298.1(CIC):c.664C>T (p.Arg222Cys)	CIC (R222C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3257665	NM_001386298.1(CIC):c.729T>C (p.Tyr243=)	CIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649951	NM_001386298.1(CIC):c.777C>A (p.Pro259=)	CIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1804939	NM_001386298.1(CIC):c.793G>A (p.Val265Met)	CIC (V265M)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 996859	NM_001386298.1(CIC):c.844C>T (p.Arg282Trp)	CIC (R282W)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 3339364	NM_001386298.1(CIC):c.895C>T (p.Arg299Cys)	CIC (R299C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1184303	NM_001386298.1(CIC):c.968G>A (p.Arg323His)	CIC (R323H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 1691566	NM_001386298.1(CIC):c.997C>T (p.Arg333Cys)	CIC (R333C)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 638530	NM_001386298.1(CIC):c.998G>A (p.Arg333His)	CIC (R333H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 2649952	NM_001386298.1(CIC):c.1008A>G (p.Leu336=)	CIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1709980	NM_001386298.1(CIC):c.1026dup (p.Trp343fs)	CIC (W343fs)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 45	GLikely pathogenic
Select item 2633531	NM_001386298.1(CIC):c.1021C>T (p.Pro341Ser)	CIC (P341S)	Single nucleotide variant (missense variant)	CIC-related disorder	GUncertain significance
Select item 3250714	NM_001386298.1(CIC):c.1025C>A (p.Pro342His)	CIC (P342H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3075672	NM_001386298.1(CIC):c.1027del (p.Trp343fs)	CIC (W343fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 45	GPathogenic
Select item 1301398	NM_001386298.1(CIC):c.1100dup (p.Pro368fs)	CIC (P368fs)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 45	GPathogenic
Select item 1805659	NM_001386298.1(CIC):c.1216C>T (p.Pro406Ser)	CIC (P406S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 2649953	NM_001386298.1(CIC):c.1292T>C (p.Phe431Ser)	CIC (F431S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3044261	NM_001386298.1(CIC):c.1296G>A (p.Val432=)	CIC	Single nucleotide variant (synonymous variant)	CIC-related disorder	GLikely benign
Select item 1335348	NM_001386298.1(CIC):c.1302C>T (p.Pro434=)	CIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2664062	NM_001386298.1(CIC):c.1315G>A (p.Glu439Lys)	CIC (E439K)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 1696696	NM_001386298.1(CIC):c.1324T>G (p.Ser442Ala)	CIC (S442A)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 1675746	NM_001386298.1(CIC):c.1326G>A (p.Ser442=)	CIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3236380	NM_001386298.1(CIC):c.1358G>A (p.Arg453His)	CIC (R453H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 1677365	NM_001386298.1(CIC):c.1369G>A (p.Val457Met)	CIC (V457M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2627303	NM_001386298.1(CIC):c.1397C>T (p.Pro466Leu)	CIC (P466L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649954	NM_001386298.1(CIC):c.1415C>T (p.Thr472Met)	CIC (T472M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3051354	NM_001386298.1(CIC):c.1419A>G (p.Pro473=)	CIC	Single nucleotide variant (synonymous variant)	CIC-related disorder	GLikely benign
Select item 3049911	NM_001386298.1(CIC):c.1428C>T (p.Ala476=)	CIC	Single nucleotide variant (synonymous variant)	CIC-related disorder	GLikely benign
Select item 3035900	NM_001386298.1(CIC):c.1431C>A (p.Ala477=)	CIC	Single nucleotide variant (synonymous variant)	CIC-related disorder	GLikely benign
Select item 2627810	NM_001386298.1(CIC):c.1449G>C (p.Lys483Asn)	CIC (K483N)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 3066265	NM_001386298.1(CIC):c.1495G>A (p.Gly499Ser)	CIC (G499S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 2649955	NM_001386298.1(CIC):c.1572C>T (p.His524=)	CIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1334748	NM_001386298.1(CIC):c.1582C>T (p.Arg528Ter)	CIC (R528*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 45	GLikely pathogenic
Select item 2649956	NM_001386298.1(CIC):c.1617G>A (p.Gly539=)	CIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3067340	NM_001386298.1(CIC):c.1620T>G (p.Pro540=)	CIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3033316	NM_001386298.1(CIC):c.1628C>T (p.Ala543Val)	CIC (A543V)	Single nucleotide variant (missense variant)	CIC-related disorder	GLikely benign
Select item 3027449	NM_001386298.1(CIC):c.1631del (p.Gly544fs)	CIC (G544fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 45	GLikely pathogenic
Select item 2649957	NM_001386298.1(CIC):c.1629G>A (p.Ala543=)	CIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1285097	NM_001386298.1(CIC):c.1638C>T (p.Pro546=)	CIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649958	NM_001386298.1(CIC):c.1654C>T (p.Arg552Cys)	CIC (R552C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1694923	NM_001386298.1(CIC):c.1668G>A (p.Thr556=)	CIC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 977346	NM_001386298.1(CIC):c.1691C>T (p.Thr564Met)	CIC (T564M)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 3239258	NM_001386298.1(CIC):c.1692G>A (p.Thr564=)	CIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1696702	NM_001386298.1(CIC):c.1736C>G (p.Ser579Ter)	CIC (S579*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 3046677	NM_001386298.1(CIC):c.1740G>A (p.Arg580=)	CIC	Single nucleotide variant (synonymous variant)	CIC-related disorder	GLikely benign
Select item 1342450	NM_001386298.1(CIC):c.1785C>A (p.Asp595Glu)	CIC (D595E)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 3349469	NM_001386298.1(CIC):c.1790G>A (p.Cys597Tyr)	CIC (C597Y)	Single nucleotide variant (missense variant)	CIC-related disorder	GUncertain significance
Select item 3063995	NM_001386298.1(CIC):c.1800C>T (p.Ala600=)	CIC	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2692486	NM_001386298.1(CIC):c.1801G>A (p.Val601Met)	CIC (V601M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2637416	NM_001386298.1(CIC):c.1828C>T (p.Arg610Cys)	CIC (R610C)	Single nucleotide variant (genic upstream transcript variant +1 more)	not specified	GUncertain significance
Select item 1325547	NM_001386298.1(CIC):c.1829G>A (p.Arg610His)	CIC (R610H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 2649959	NM_001386298.1(CIC):c.1869G>A (p.Ser623=)	CIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3257032	NM_001386298.1(CIC):c.1878G>A (p.Ser626=)	CIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1694924	NM_001386298.1(CIC):c.1905A>G (p.Pro635=)	CIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2429812	NM_001386298.1(CIC):c.1975C>T (p.Arg659Cys)	CIC (R659C)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2649960	NM_001386298.1(CIC):c.1998C>T (p.Ser666=)	CIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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