SOHLH2[gene] - ClinVar

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Items: 84

	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 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 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 148858	GRCh38/hg38 13q12.3-13.3(chr13:29073320-36556014)x1	ALOX5AP, B3GLCT +203 more	Copy number loss	See cases	GPathogenic
Select item 154802	GRCh38/hg38 13q12.3-13.3(chr13:29321454-36995348)x3	ALG5, ALOX5AP +211 more	Copy number gain	See cases	GPathogenic
Select item 150360	GRCh38/hg38 13q12.3-13.3(chr13:30313809-39267681)x1	ALG5, ALOX5AP +214 more	Copy number loss	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	LOC130009567, LOC130009568 +1005 more	Copy number gain	See cases	GPathogenic
Select item 57638	GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1	LOC130009620, LOC130009621 +781 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	LOC130009600, LOC130009601 +735 more	Copy number gain	See cases	GPathogenic
Select item 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	LOC130009611, LOC130009612 +938 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +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_001198910.2(CCDC169-SOHLH2):c.1482C>A (p.Asn494Lys)	CCDC169-SOHLH2, SOHLH2 (N417K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038235	NM_001198910.2(CCDC169-SOHLH2):c.1436G>A (p.Arg479Gln)	CCDC169-SOHLH2, SOHLH2 (R402Q +1 more)	Single nucleotide variant (missense variant)	CCDC169-SOHLH2-related disorder	GLikely benign
Select item 3138783	NM_001198910.2(CCDC169-SOHLH2):c.1435C>T (p.Arg479Trp)	CCDC169-SOHLH2, SOHLH2 (R479W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138782	NM_001198910.2(CCDC169-SOHLH2):c.1366G>C (p.Ala456Pro)	CCDC169-SOHLH2, SOHLH2 (A379P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138780	NM_001198910.2(CCDC169-SOHLH2):c.1357G>A (p.Asp453Asn)	CCDC169-SOHLH2, SOHLH2 (D453N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056894	NM_001198910.2(CCDC169-SOHLH2):c.1356C>T (p.Tyr452=)	CCDC169-SOHLH2, SOHLH2	Single nucleotide variant (synonymous variant)	CCDC169-SOHLH2-related disorder	GBenign
Select item 3138779	NM_001198910.2(CCDC169-SOHLH2):c.1298C>G (p.Ala433Gly)	CCDC169-SOHLH2, SOHLH2 (A356G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551519	NM_001198910.2(CCDC169-SOHLH2):c.1298C>T (p.Ala433Val)	CCDC169-SOHLH2, SOHLH2 (A356V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138778	NM_001198910.2(CCDC169-SOHLH2):c.1280C>G (p.Thr427Ser)	CCDC169-SOHLH2, SOHLH2 (T350S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138777	NM_001198910.2(CCDC169-SOHLH2):c.1250C>T (p.Ser417Leu)	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_001198910.2(CCDC169-SOHLH2):c.1196C>T (p.Pro399Leu)	CCDC169-SOHLH2, SOHLH2 (P399L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138775	NM_001198910.2(CCDC169-SOHLH2):c.1174T>C (p.Cys392Arg)	CCDC169-SOHLH2, SOHLH2 (C392R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138774	NM_001198910.2(CCDC169-SOHLH2):c.1172C>T (p.Thr391Met)	CCDC169-SOHLH2, SOHLH2 (T314M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138773	NM_001198910.2(CCDC169-SOHLH2):c.1141C>T (p.Pro381Ser)	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_001198910.2(CCDC169-SOHLH2):c.1009G>A (p.Val337Ile)	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_001198910.2(CCDC169-SOHLH2):c.907A>T (p.Thr303Ser)	CCDC169-SOHLH2, SOHLH2 (T226S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138793	NM_001198910.2(CCDC169-SOHLH2):c.841C>T (p.Leu281Phe)	CCDC169-SOHLH2, SOHLH2 (L281F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138792	NM_001198910.2(CCDC169-SOHLH2):c.828C>A (p.Asn276Lys)	CCDC169-SOHLH2, SOHLH2 (N199K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138790	NM_001198910.2(CCDC169-SOHLH2):c.820G>A (p.Glu274Lys)	CCDC169-SOHLH2, SOHLH2 (E274K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138789	NM_001198910.2(CCDC169-SOHLH2):c.782G>A (p.Gly261Asp)	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_001198910.2(CCDC169-SOHLH2):c.675C>T (p.Asn225=)	CCDC169-SOHLH2, SOHLH2	Single nucleotide variant (synonymous variant)	CCDC169-SOHLH2-related disorder	GLikely benign
Select item 2308723	NM_001198910.2(CCDC169-SOHLH2):c.664A>G (p.Lys222Glu)	CCDC169-SOHLH2, SOHLH2 (K145E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138788	NM_001198910.2(CCDC169-SOHLH2):c.503A>G (p.Lys168Arg)	CCDC169-SOHLH2, SOHLH2 (K168R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044844	NM_001198910.2(CCDC169-SOHLH2):c.495-5C>T	CCDC169-SOHLH2, SOHLH2	Single nucleotide variant (intron variant)	CCDC169-SOHLH2-related disorder	GLikely benign
Select item 3138787	NM_001198910.2(CCDC169-SOHLH2):c.428A>G (p.Asn143Ser)	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 3321429	NM_017826.3(SOHLH2):c.158C>T (p.Thr53Met)	CCDC169-SOHLH2, SOHLH2 (T130M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3138786	NM_001198910.2(CCDC169-SOHLH2):c.358A>G (p.Ile120Val)	CCDC169-SOHLH2, SOHLH2 (I120V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037787	NM_001198910.2(CCDC169-SOHLH2):c.335C>T (p.Thr112Ile)	CCDC169-SOHLH2, SOHLH2 (T112I +1 more)	Single nucleotide variant (missense variant)	CCDC169-SOHLH2-related disorder	GLikely benign
Select item 3138785	NM_001198910.2(CCDC169-SOHLH2):c.319G>T (p.Gly107Cys)	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 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	ITM2B, KBTBD6 +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	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 1527766	GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753)	SPART, SPRYD7 +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)	AKAP11, ALG11 +127 more	Copy number loss	not specified	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 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 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	NUDT15, NUFIP1 +211 more	Copy number gain	not provided	GPathogenic
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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Items: 84