1024[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 153502	GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3	LOC126861730, LOC126861731 +489 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 59861	GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3	LOC130009490, LOC130009491 +416 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC132090185, LOC132090186 +621 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 3141606	NM_001260.3(CDK8):c.29G>A (p.Ser10Asn)	CDK8, LOC130009416 (S10N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1805725	NM_001260.3(CDK8):c.32G>A (p.Ser11Asn)	CDK8, LOC130009416 (S11N)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with hypotonia and behavioral abnormalities	GUncertain significance
Select item 2525118	NM_001260.3(CDK8):c.36G>C (p.Glu12Asp)	CDK8, LOC130009416 (E12D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3368754	NM_001260.3(CDK8):c.79G>C (p.Val27Leu)	CDK8, LOC130009416 (V27L)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 805982	NM_001260.3(CDK8):c.85C>G (p.Arg29Gly)	CDK8, LOC130009416 (R29G)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with hypotonia and behavioral abnormalities	GPathogenic
Select item 871513	NM_001260.3(CDK8):c.88G>T (p.Gly30Cys)	CDK8, LOC130009416 (G30C)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 805983	NM_001260.3(CDK8):c.88G>A (p.Gly30Ser)	CDK8, LOC130009416 (G30S)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with hypotonia and behavioral abnormalities	GPathogenic
Select item 2444300	NM_001260.3(CDK8):c.89G>A (p.Gly30Asp)	CDK8, LOC130009416 (G30D)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with hypotonia and behavioral abnormalities	GUncertain significance
Select item 1802178	NM_001260.3(CDK8):c.89G>T (p.Gly30Val)	CDK8, LOC130009416 (G30V)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with hypotonia and behavioral abnormalities	GLikely pathogenic
Select item 3364634	NM_001260.3(CDK8):c.100C>G (p.His34Asp)	CDK8 (H34D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3035043	NM_001260.3(CDK8):c.128+10T>C	CDK8	Single nucleotide variant (intron variant)	CDK8-related disorder	GBenign
Select item 2505242	NM_001260.3(CDK8):c.129-11T>A	CDK8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2439883	NM_001260.3(CDK8):c.129del	CDK8	Deletion (splice acceptor variant)	Intellectual developmental disorder with hypotonia and behavioral abnormalities	GUncertain significance
Select item 2854926	NM_001260.3(CDK8):c.160A>G (p.Ile54Val)	CDK8 (I54V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3236205	NM_001260.3(CDK8):c.185C>G (p.Ser62Trp)	CDK8 (S62W)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with hypotonia and behavioral abnormalities	GLikely pathogenic
Select item 805981	NM_001260.3(CDK8):c.185C>T (p.Ser62Leu)	CDK8 (S62L)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with hypotonia and behavioral abnormalities +1 more	GPathogenic
Select item 631491	NM_001260.3(CDK8):c.185C>A (p.Ser62Ter)	CDK8 (S62*)	Single nucleotide variant (nonsense +1 more)	Ebstein anomaly +6 more	GPathogenic
Select item 2356496	NM_001260.3(CDK8):c.204A>G (p.Ala68=)	CDK8	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1708079	NM_001260.3(CDK8):c.212G>A (p.Arg71Gln)	CDK8 (R71Q)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with hypotonia and behavioral abnormalities	GLikely benign
Select item 2575585	NM_001260.3(CDK8):c.277G>C (p.Val93Leu)	CDK8 (V93L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1309527	NM_001260.3(CDK8):c.358C>T (p.Pro120Ser)	CDK8 (P120S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3365242	NM_001260.3(CDK8):c.366G>C (p.Gln122His)	CDK8 (Q122H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3029002	NM_001260.3(CDK8):c.371C>T (p.Pro124Leu)	CDK8 (P124L)	Single nucleotide variant (missense variant +1 more)	CDK8-related disorder	GUncertain significance
Select item 2439882	NM_001260.3(CDK8):c.379A>G (p.Met127Val)	CDK8 (M127V)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with hypotonia and behavioral abnormalities	GUncertain significance
Select item 2444830	NM_001260.3(CDK8):c.381G>A (p.Met127Ile)	CDK8 (M127I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3234070	NM_001260.3(CDK8):c.398A>G (p.Tyr133Cys)	CDK8 (Y133C)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with hypotonia and behavioral abnormalities	GUncertain significance
Select item 2626998	NM_001260.3(CDK8):c.412G>A (p.Gly138Ser)	CDK8 (G138S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2662568	NM_001260.3(CDK8):c.427C>T (p.His143Tyr)	CDK8 (H143Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2559620	NM_001260.3(CDK8):c.428A>G (p.His143Arg)	CDK8 (H143R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2662044	NM_001260.3(CDK8):c.434A>G (p.Asn145Ser)	CDK8 (N145S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 982990	NM_001260.3(CDK8):c.479T>C (p.Met160Thr)	CDK8 (M160T)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with hypotonia and behavioral abnormalities	GLikely pathogenic
Select item 3364151	NM_001260.3(CDK8):c.523G>A (p.Gly175Ser)	CDK8 (G175S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 805984	NM_001260.3(CDK8):c.578T>G (p.Val193Gly)	CDK8 (V20G)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with hypotonia and behavioral abnormalities	GPathogenic
Select item 1705513	NM_001260.3(CDK8):c.583G>T (p.Val195Phe)	CDK8 (V195F +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with hypotonia and behavioral abnormalities	GUncertain significance
Select item 1810411	NM_001260.3(CDK8):c.586A>T (p.Thr196Ser)	CDK8 (T23S +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with hypotonia and behavioral abnormalities	GLikely pathogenic
Select item 996136	NM_001260.3(CDK8):c.587C>T (p.Thr196Ile)	CDK8 (T196I +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with hypotonia and behavioral abnormalities	GLikely pathogenic
Select item 871514	NM_001260.3(CDK8):c.599G>A (p.Arg200Gln)	CDK8 (R27Q +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with hypotonia and behavioral abnormalities +1 more	GConflicting classifications of pathogenicity
Select item 3363909	NM_001260.3(CDK8):c.656C>T (p.Ala219Val)	CDK8 (A219V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 805985	NM_001260.3(CDK8):c.669A>G (p.Ile223Met)	CDK8 (I223M +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with hypotonia and behavioral abnormalities	GPathogenic
Select item 3025053	NM_001260.3(CDK8):c.705C>T (p.His235=)	CDK8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2580059	NM_001260.3(CDK8):c.708T>G (p.Cys236Trp)	CDK8 (C236W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2247169	NM_001260.3(CDK8):c.733A>G (p.Asn245Asp)	CDK8 (N245D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2439884	NM_001260.3(CDK8):c.747T>G (p.His249Gln)	CDK8 (H249Q +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with hypotonia and behavioral abnormalities	GUncertain significance
Select item 1698261	NM_001260.3(CDK8):c.791-13A>G	CDK8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2643704	NM_001260.3(CDK8):c.831A>G (p.Ser277=)	CDK8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3141607	NM_001260.3(CDK8):c.866C>A (p.Thr289Asn)	CDK8 (T116N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2446226	NM_001260.3(CDK8):c.870dup (p.Cys291fs)	CDK8 (C118fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1209718	NM_001260.3(CDK8):c.934-28G>A	CDK8	Single nucleotide variant (intron variant)	Intellectual developmental disorder with hypotonia and behavioral abnormalities +1 more	GBenign
Select item 3141608	NM_001260.3(CDK8):c.998C>T (p.Pro333Leu)	CDK8 (P333L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230526	NM_001260.3(CDK8):c.1067G>A (p.Arg356Gln)	CDK8 (R183Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3049812	NM_001260.3(CDK8):c.1080G>A (p.Thr360=)	CDK8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2635069	NM_001260.3(CDK8):c.1121A>G (p.Gln374Arg)	CDK8 (Q201R +2 more)	Single nucleotide variant (missense variant)	CDK8-related disorder	GUncertain significance
Select item 2630804	NM_001260.3(CDK8):c.1159C>T (p.His387Tyr)	CDK8 (H214Y +2 more)	Single nucleotide variant (missense variant)	CDK8-related disorder	GUncertain significance
Select item 3068624	NM_001260.3(CDK8):c.1163C>A (p.Pro388Gln)	CDK8 (P215Q +2 more)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GUncertain significance
Select item 2551635	NM_001260.3(CDK8):c.1166G>A (p.Gly389Glu)	CDK8 (G389E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3265505	NM_001260.3(CDK8):c.1232C>T (p.Thr411Ile)	CDK8 (T410I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2431811	NM_001260.3(CDK8):c.1261G>C (p.Asp421His)	CDK8 (D248H +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with hypotonia and behavioral abnormalities	GUncertain significance
Select item 2299291	NM_001260.3(CDK8):c.1265A>G (p.Tyr422Cys)	CDK8 (Y249C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1805781	NM_001260.3(CDK8):c.1299C>G (p.Asn433Lys)	CDK8 (N260K +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with hypotonia and behavioral abnormalities	GUncertain significance
Select item 2662895	NM_001260.3(CDK8):c.1301C>T (p.Pro434Leu)	CDK8 (P261L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3141605	NM_001260.3(CDK8):c.1320G>T (p.Gln440His)	CDK8 (Q439H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1341745	NM_001260.3(CDK8):c.1322C>T (p.Pro441Leu)	CDK8 (P268L +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with hypotonia and behavioral abnormalities	GUncertain significance
Select item 2489195	NM_001260.3(CDK8):c.1335G>C (p.Met445Ile)	CDK8 (M272I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2581945	NM_001260.3(CDK8):c.1368G>T (p.Gln456His)	CDK8 (Q283H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3048243	NM_001260.3(CDK8):c.*8C>T	CDK8	Single nucleotide variant (3 prime UTR variant)	CDK8-related disorder	GLikely benign
Select item 3148850	GRCh37/hg19 13q11-13.3(chr13:19436287-36278224)x3	CDX2, AMER2 +82 more	Copy number gain	not provided	GUncertain significance
Select item 3063305	GRCh37/hg19 13q12.12-12.2(chr13:23329180-28663294)x3	AMER2, ATP12A +33 more	Copy number gain	not specified	GUncertain significance
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	B3GLCT, HS6ST3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	ABCC4, ABHD13 +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	VPS36, VWA8 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341191	GRCh37/hg19 13q12.13(chr13:25967889-27105105)x3	ATP8A2, CDK8 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	DACH1, IRS2 +332 more	Copy number gain	See cases	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	CENPJ, CHAMP1 +332 more	Copy number gain	See cases	GPathogenic
Select item 979362	GRCh37/hg19 13q12.12-12.3(chr13:23775339-30534624)x3	AMER2, GTF3A +40 more	Copy number gain	not provided	GLikely pathogenic
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 686932	GRCh37/hg19 13q12.11-12.13(chr13:20069228-27474401)x3	AMER2, ATP12A +40 more	Copy number gain	not provided	GPathogenic
Select item 564083	GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3	NUDT15, NUFIP1 +211 more	Copy number gain	not provided	GPathogenic
Select item 523170	GRCh37/hg19 13q12.12-13.2(chr13:24080918-34361992)x1	CDK8, CDX2 +56 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443856	GRCh37/hg19 13q12.12-12.13(chr13:23552966-27027909)x1	AMER2, ATP12A +18 more	Copy number loss	See cases	GLikely pathogenic
Select item 441765	GRCh37/hg19 13q11-34(chr13:19436287-115107733)	FGF9, FLT1 +332 more	Copy number gain	See cases	GPathogenic
Select item 441764	GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 394462	GRCh37/hg19 13q12.11-34(chr13:19571503-115092510)	CRYL1, CSNK1A1L +332 more	Copy number gain	See cases	GPathogenic
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	GTF2F2, LINC00567 +332 more	Copy number gain	See cases	GPathogenic

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