CCDC169-SOHLH2[gene] - ClinVar

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Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	LOC121466733, LOC121468000 +2048 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130010147, LOC130010148 +2049 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009360, LOC130009361 +2047 more	Copy number gain	See cases	GPathogenic
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	PDS5B, PDX1 +566 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	LOC130009909, LOC130009910 +2044 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	LINC00333, LINC00343 +2045 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC112163664, LOC112163665 +2040 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC121838573, LOC121838574 +2028 more	Copy number gain	See cases	GPathogenic
Select item 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC130009528, LOC130009529 +620 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	URAD, USP12 +2024 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LINC00462, LINC00463 +2021 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 148858	GRCh38/hg38 13q12.3-13.3(chr13:29073320-36556014)x1	ALOX5AP, B3GLCT +202 more	Copy number loss	See cases	GPathogenic
Select item 154802	GRCh38/hg38 13q12.3-13.3(chr13:29321454-36995348)x3	ALG5, ALOX5AP +210 more	Copy number gain	See cases	GPathogenic
Select item 150360	GRCh38/hg38 13q12.3-13.3(chr13:30313809-39267681)x1	ALG5, ALOX5AP +213 more	Copy number loss	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	ACOD1, AKAP11 +1004 more	Copy number gain	See cases	GPathogenic
Select item 57638	GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1	AKAP11, ALG11 +780 more	Copy number loss	See cases	GPathogenic
Select item 149761	GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1	AKAP11, ALG5 +485 more	Copy number loss	See cases	GPathogenic
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 33174	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 146536	GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3	LINC00434, LINC00437 +735 more	Copy number gain	See cases	GPathogenic
Select item 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	DNAJC15, EBPL +938 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	SIAH3, SLAIN1 +1557 more	Copy number gain	See cases	GPathogenic
Select item 58253	GRCh38/hg38 13q13.2-13.3(chr13:33754469-36942137)x3	CCDC169, CCDC169-SOHLH2 +53 more	Copy number gain	See cases	GUncertain significance
Select item 57640	GRCh38/hg38 13q13.3-14.11(chr13:35232476-41375955)x1	ALG5, CCDC169 +146 more	Copy number loss	See cases	GPathogenic
Select item 3138784	NM_017826.3(SOHLH2):c.1251C>A (p.Asn417Lys)	CCDC169-SOHLH2, SOHLH2 (N417K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038235	NM_017826.3(SOHLH2):c.1205G>A (p.Arg402Gln)	CCDC169-SOHLH2, SOHLH2 (R402Q +1 more)	Single nucleotide variant (missense variant)	CCDC169-SOHLH2-related condition	GLikely benign
Select item 3138783	NM_017826.3(SOHLH2):c.1204C>T (p.Arg402Trp)	CCDC169-SOHLH2, SOHLH2 (R479W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138782	NM_017826.3(SOHLH2):c.1135G>C (p.Ala379Pro)	CCDC169-SOHLH2, SOHLH2 (A379P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138780	NM_017826.3(SOHLH2):c.1126G>A (p.Asp376Asn)	CCDC169-SOHLH2, SOHLH2 (D453N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056894	NM_017826.3(SOHLH2):c.1125C>T (p.Tyr375=)	CCDC169-SOHLH2, SOHLH2	Single nucleotide variant (synonymous variant)	CCDC169-SOHLH2-related condition	GBenign
Select item 3138779	NM_017826.3(SOHLH2):c.1067C>G (p.Ala356Gly)	CCDC169-SOHLH2, SOHLH2 (A356G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551519	NM_017826.3(SOHLH2):c.1067C>T (p.Ala356Val)	CCDC169-SOHLH2, SOHLH2 (A356V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138778	NM_017826.3(SOHLH2):c.1049C>G (p.Thr350Ser)	CCDC169-SOHLH2, SOHLH2 (T350S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138777	NM_017826.3(SOHLH2):c.1019C>T (p.Ser340Leu)	CCDC169-SOHLH2, SOHLH2 (S340L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059526	NM_017826.3(SOHLH2):c.1015G>A (p.Ala339Thr)	CCDC169-SOHLH2, SOHLH2 (A339T +1 more)	Single nucleotide variant (missense variant)	SOHLH2-related disorder	GBenign
Select item 3039034	NM_017826.3(SOHLH2):c.1005A>G (p.Pro335=)	CCDC169-SOHLH2, SOHLH2	Single nucleotide variant (synonymous variant)	SOHLH2-related disorder	GLikely benign
Select item 3138776	NM_017826.3(SOHLH2):c.965C>T (p.Pro322Leu)	CCDC169-SOHLH2, SOHLH2 (P399L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138775	NM_017826.3(SOHLH2):c.943T>C (p.Cys315Arg)	CCDC169-SOHLH2, SOHLH2 (C392R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138774	NM_017826.3(SOHLH2):c.941C>T (p.Thr314Met)	CCDC169-SOHLH2, SOHLH2 (T314M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138773	NM_017826.3(SOHLH2):c.910C>T (p.Pro304Ser)	CCDC169-SOHLH2, SOHLH2 (P304S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035150	NM_017826.3(SOHLH2):c.906C>T (p.Tyr302=)	CCDC169-SOHLH2, SOHLH2	Single nucleotide variant (synonymous variant)	SOHLH2-related disorder	GLikely benign
Select item 3138772	NM_017826.3(SOHLH2):c.778G>A (p.Val260Ile)	CCDC169-SOHLH2, SOHLH2 (V260I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3035065	NM_017826.3(SOHLH2):c.691G>A (p.Val231Ile)	CCDC169-SOHLH2, SOHLH2 (V231I +1 more)	Single nucleotide variant (missense variant)	SOHLH2-related disorder	GLikely benign
Select item 3138794	NM_017826.3(SOHLH2):c.676A>T (p.Thr226Ser)	CCDC169-SOHLH2, SOHLH2 (T226S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138793	NM_017826.3(SOHLH2):c.610C>T (p.Leu204Phe)	CCDC169-SOHLH2, SOHLH2 (L281F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138792	NM_017826.3(SOHLH2):c.597C>A (p.Asn199Lys)	CCDC169-SOHLH2, SOHLH2 (N199K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138790	NM_017826.3(SOHLH2):c.589G>A (p.Glu197Lys)	CCDC169-SOHLH2, SOHLH2 (E274K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138789	NM_017826.3(SOHLH2):c.551G>A (p.Gly184Asp)	CCDC169-SOHLH2, SOHLH2 (G261D +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3037375	NM_017826.3(SOHLH2):c.492C>T (p.Ser164=)	CCDC169-SOHLH2, SOHLH2	Single nucleotide variant (synonymous variant)	SOHLH2-related disorder	GBenign
Select item 3051796	NM_017826.3(SOHLH2):c.444C>T (p.Asn148=)	CCDC169-SOHLH2, SOHLH2	Single nucleotide variant (synonymous variant)	CCDC169-SOHLH2-related condition	GLikely benign
Select item 2308723	NM_017826.3(SOHLH2):c.433A>G (p.Lys145Glu)	CCDC169-SOHLH2, SOHLH2 (K145E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138788	NM_017826.3(SOHLH2):c.272A>G (p.Lys91Arg)	CCDC169-SOHLH2, SOHLH2 (K168R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044844	NM_017826.3(SOHLH2):c.264-5C>T	CCDC169-SOHLH2, SOHLH2	Single nucleotide variant (intron variant)	CCDC169-SOHLH2-related condition	GLikely benign
Select item 3138787	NM_017826.3(SOHLH2):c.197A>G (p.Asn66Ser)	CCDC169-SOHLH2, SOHLH2 (N66S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057667	NM_017826.3(SOHLH2):c.165G>A (p.Glu55=)	CCDC169-SOHLH2, SOHLH2	Single nucleotide variant (synonymous variant)	SOHLH2-related disorder	GLikely benign
Select item 3138786	NM_017826.3(SOHLH2):c.127A>G (p.Ile43Val)	CCDC169-SOHLH2, SOHLH2 (I120V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037787	NM_017826.3(SOHLH2):c.104C>T (p.Thr35Ile)	CCDC169-SOHLH2, SOHLH2 (T112I +1 more)	Single nucleotide variant (missense variant)	CCDC169-SOHLH2-related condition	GLikely benign
Select item 3138785	NM_017826.3(SOHLH2):c.88G>T (p.Gly30Cys)	CCDC169-SOHLH2, SOHLH2 (G30C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035330	NM_017826.3(SOHLH2):c.48+9C>A	CCDC169-SOHLH2, SOHLH2	Single nucleotide variant (intron variant)	SOHLH2-related disorder	GLikely benign
Select item 2494924	NM_001198908.2(CCDC169):c.721A>G (p.Ser241Gly)	CCDC169, CCDC169-SOHLH2 (S139G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470484	NM_001144981.3(CCDC169):c.181C>T (p.Arg61Cys)	CCDC169, CCDC169-SOHLH2 (R61C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3138770	NM_001144981.3(CCDC169):c.145C>T (p.Leu49Phe)	CCDC169, CCDC169-SOHLH2 (L49F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343749	NM_001144981.3(CCDC169):c.23A>G (p.Asn8Ser)	CCDC169, CCDC169-SOHLH2 (N8S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2335637	NM_001144981.3(CCDC169):c.20A>G (p.Tyr7Cys)	CCDC169, CCDC169-SOHLH2 (Y7C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3063311	GRCh37/hg19 13q13.2-21.1(chr13:35015723-59553519)x3	AKAP11, ALG11 +117 more	Copy number gain	not specified	GPathogenic
Select item 3063306	GRCh37/hg19 13q13.2-14.11(chr13:35060982-44540846)x1	AKAP11, ALG5 +42 more	Copy number loss	not specified	GUncertain significance
Select item 3024581	GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1	AKAP11, ALG11 +119 more	Copy number loss	not provided	GPathogenic
Select item 1809134	GRCh37/hg19 13q13.3-14.11(chr13:35501428-40901176)x1	ALG5, CCDC169 +22 more	Copy number loss	not provided	GPathogenic
Select item 1808770	GRCh37/hg19 13q13.3-14.11(chr13:36148057-41670428)x3	ALG5, CCDC169 +26 more	Copy number gain	not provided	GUncertain significance
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	CCDC169-SOHLH2, CCDC70 +332 more	Copy number gain	not provided	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	PCID2, PCOTH +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1527766	GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753)	CLN5, CNMD +147 more	Copy number loss	not specified	GPathogenic
Select item 1527765	GRCh37/hg19 13q13.3(chr13:36064105-39230796)x1	ALG5, CCDC169 +15 more	Copy number loss	not specified	GPathogenic
Select item 1527763	GRCh37/hg19 13q13.3(chr13:35531798-39607778)	ALG5, CCDC169 +19 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527762	GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217)	MIR16-1, MLNR +127 more	Copy number loss	not specified	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, DNAJC15 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	ZMYM5, SPATA13 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ARGLU1, FBXL3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	MRPL57, MRPS31 +332 more	Copy number gain	See cases	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	DGKH, DHRS12 +332 more	Copy number gain	See cases	GPathogenic
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 564083	GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3	AKAP11, ALG11 +211 more	Copy number gain	not provided	GPathogenic
Select item 441765	GRCh37/hg19 13q11-34(chr13:19436287-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 441764	GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3	HTR2A, IFT88 +332 more	Copy number gain	See cases	GPathogenic
Select item 394462	GRCh37/hg19 13q12.11-34(chr13:19571503-115092510)	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic

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Items: 88