ClinVar for Gene (Select 402381) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382942	NM_001101677.2(SOHLH1):c.760C>T (p.Pro254Ser)	SOHLH1 (P254S)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 5 +1 more	GUncertain significance
Select item 3321428	NM_001101677.2(SOHLH1):c.976C>T (p.Pro326Ser)	SOHLH1 (P326S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3321427	NM_001101677.2(SOHLH1):c.985G>A (p.Ala329Thr)	SOHLH1 (A329T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3321426	NM_001101677.2(SOHLH1):c.1078G>A (p.Glu360Lys)	SOHLH1 (E360K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3321424	NM_001101677.2(SOHLH1):c.518C>T (p.Ala173Val)	SOHLH1 (A173V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321423	NM_001101677.2(SOHLH1):c.1073C>G (p.Pro358Arg)	SOHLH1 (P358R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3321422	NM_001101677.2(SOHLH1):c.446C>T (p.Thr149Met)	SOHLH1 (T149M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321421	NM_001101677.2(SOHLH1):c.637C>T (p.Arg213Trp)	SOHLH1 (R213W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245294	NC_000009.11:g.(?_131678355)_(140095163_?)dup	HMCN2, IER5L +147 more	Duplication	not provided	GUncertain significance
Select item 3238725	GRCh38/hg38 9q34.3(chr9:135338745-138124196)	ABCA2, AGPAT2 +344 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238707	GRCh38/hg38 9q34.3(chr9:135203306-138100471)	LOC130003123, LOC130003124 +345 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238701	GRCh38/hg38 9q34.2-34.3(chr9:134288333-138155727)	ABCA2, AGPAT2 +388 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238697	GRCh38/hg38 9q34.3(chr9:135008333-138199729)	ABCA2, AGPAT2 +347 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238694	GRCh38/hg38 9q34.3(chr9:135204722-138394717)	EHMT1, ENTPD2 +347 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238689	GRCh38/hg38 9q34.3(chr9:134642187-138121999)	ABCA2, AGPAT2 +367 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238673	GRCh38/hg38 9q34.13-34.3(chr9:137552409-137879159)	LOC124375238, LOC124375239 +569 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238671	GRCh38/hg38 9q34.13-34.3(chr9:137552082-137728529)	GBGT1, GLT6D1 +552 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238668	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138052113)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238667	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138059181)	LOC130002921, LOC130002922 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238666	GRCh38/hg38 9q34.13-34.3(chr9:136926151-138059181)	LOC121366034, LOC121366035 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238664	GRCh38/hg38 9q34.13-34.3(chr9:137590213-137817525)	SARDH, SEC16A +568 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238663	GRCh38/hg38 9q34.13-34.3(chr9:137590213-138052188)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238659	GRCh38/hg38 9q34.3(chr9:135182209-138129711)	UBAC1, ZMYND19 +346 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3235006	NM_001101677.2(SOHLH1):c.743C>T (p.Ser248Leu)	SOHLH1 (S248L)	Single nucleotide variant (missense variant)	Spermatogenic failure 32	GUncertain significance
Select item 3167461	NM_001101677.2(SOHLH1):c.982T>C (p.Trp328Arg)	SOHLH1 (W328R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3167460	NM_001101677.2(SOHLH1):c.980C>T (p.Ala327Val)	SOHLH1 (A327V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3167459	NM_001101677.2(SOHLH1):c.965G>A (p.Gly322Glu)	SOHLH1 (G322E)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3167458	NM_001101677.2(SOHLH1):c.962G>A (p.Arg321Gln)	SOHLH1 (R321Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3167457	NM_001101677.2(SOHLH1):c.85C>T (p.Leu29Phe)	SOHLH1 (L29F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167456	NM_001101677.2(SOHLH1):c.719C>T (p.Pro240Leu)	SOHLH1 (P240L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167455	NM_001101677.2(SOHLH1):c.662A>C (p.Glu221Ala)	SOHLH1 (E221A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167454	NM_001101677.2(SOHLH1):c.574C>T (p.Pro192Ser)	SOHLH1 (P192S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167453	NM_001101677.2(SOHLH1):c.410C>T (p.Ser137Leu)	SOHLH1 (S137L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167452	NM_001101677.2(SOHLH1):c.382C>A (p.Gln128Lys)	SOHLH1 (Q128K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167451	NM_001101677.2(SOHLH1):c.29C>T (p.Pro10Leu)	SOHLH1 (P10L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063105	GRCh37/hg19 9q34.3(chr9:137892345-138866686)x3	CAMSAP1, GLT6D1 +12 more	Copy number gain	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3049382	NM_001101677.2(SOHLH1):c.152C>T (p.Pro51Leu)	SOHLH1 (P51L)	Single nucleotide variant (missense variant)	SOHLH1-related disorder	GLikely benign
Select item 3048875	NM_001101677.2(SOHLH1):c.883T>C (p.Leu295=)	SOHLH1	Single nucleotide variant (synonymous variant)	SOHLH1-related disorder	GLikely benign
Select item 3040829	NM_001101677.2(SOHLH1):c.138G>A (p.Thr46=)	SOHLH1	Single nucleotide variant (synonymous variant)	SOHLH1-related disorder	GLikely benign
Select item 3025401	NM_001101677.2(SOHLH1):c.224G>A (p.Arg75His)	SOHLH1 (R75H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2684590	GRCh37/hg19 9q34.2-34.3(chr9:136988996-141020389)x3	ABCA2, AGPAT2 +95 more	Copy number gain	not provided	GPathogenic
Select item 2659713	NM_001101677.2(SOHLH1):c.197+5G>A	SOHLH1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2659712	NM_001101677.2(SOHLH1):c.653C>T (p.Pro218Leu)	SOHLH1 (P218L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2659711	NM_001101677.2(SOHLH1):c.990A>G (p.Pro330=)	SOHLH1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2579078	NM_001101677.2(SOHLH1):c.668C>G (p.Ser223Cys)	SOHLH1 (S223C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2570561	NM_001101677.2(SOHLH1):c.374A>C (p.His125Pro)	SOHLH1 (H125P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570335	NM_001101677.2(SOHLH1):c.881C>T (p.Ala294Val)	SOHLH1 (A294V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2567917	NM_001101677.2(SOHLH1):c.338A>C (p.Gln113Pro)	SOHLH1 (Q113P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551284	NM_001101677.2(SOHLH1):c.736C>T (p.Pro246Ser)	SOHLH1 (P246S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542677	NM_001101677.2(SOHLH1):c.638G>A (p.Arg213Gln)	SOHLH1 (R213Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525502	NM_001101677.2(SOHLH1):c.554C>T (p.Ala185Val)	SOHLH1 (A185V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499110	NM_001101677.2(SOHLH1):c.537C>T (p.Pro179=)	SOHLH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2496377	NM_001101677.2(SOHLH1):c.77C>T (p.Ser26Phe)	SOHLH1 (S26F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483517	NM_001101677.2(SOHLH1):c.317C>T (p.Ala106Val)	SOHLH1 (A106V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479748	NM_001101677.2(SOHLH1):c.152C>G (p.Pro51Arg)	SOHLH1 (P51R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454811	NM_001101677.2(SOHLH1):c.1106C>A (p.Ala369Glu)	SOHLH1 (A369E)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2429747	NM_001101677.2(SOHLH1):c.397C>T (p.Gln133Ter)	SOHLH1 (Q133*)	Single nucleotide variant (nonsense)	Ovarian dysgenesis 5	GLikely pathogenic
Select item 2426886	NC_000009.11:g.(?_136218768)_(141016451_?)dup	STKLD1, STPG3 +110 more	Duplication	Kleefstra syndrome 1	GUncertain significance
Select item 2426327	NC_000009.11:g.(?_138392557)_(141016451_?)del	NOXA1, NPDC1 +85 more	Deletion	Adams-Oliver syndrome 5 +3 more	GConflicting classifications of pathogenicity
Select item 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2422970	NC_000009.11:g.(?_135139626)_(140034216_?)dup	ABCA2, ABO +100 more	Duplication	Developmental and epileptic encephalopathy, 14 +4 more	GUncertain significance
Select item 2396199	NM_001101677.2(SOHLH1):c.1123G>A (p.Asp375Asn)	SOHLH1 (D375N)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2393834	NM_001101677.2(SOHLH1):c.824C>T (p.Ala275Val)	SOHLH1 (A275V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2382463	NM_001101677.2(SOHLH1):c.790C>G (p.Leu264Val)	SOHLH1 (L264V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371552	NM_001101677.2(SOHLH1):c.28C>T (p.Pro10Ser)	SOHLH1 (P10S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368827	NM_001101677.2(SOHLH1):c.938C>T (p.Ser313Leu)	SOHLH1 (S313L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312560	NM_001101677.2(SOHLH1):c.137C>T (p.Thr46Met)	SOHLH1 (T46M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302576	NM_001101677.2(SOHLH1):c.130G>A (p.Ala44Thr)	SOHLH1 (A44T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291207	NM_001101677.2(SOHLH1):c.484G>T (p.Ala162Ser)	SOHLH1 (A162S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271474	NM_001101677.2(SOHLH1):c.41G>A (p.Arg14Lys)	SOHLH1 (R14K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264115	NM_001101677.2(SOHLH1):c.50C>A (p.Thr17Asn)	SOHLH1 (T17N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253662	NM_001101677.2(SOHLH1):c.221A>G (p.Glu74Gly)	SOHLH1 (E74G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245242	NM_001101677.2(SOHLH1):c.464C>T (p.Thr155Ile)	SOHLH1 (T155I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229484	NM_001101677.2(SOHLH1):c.404C>T (p.Thr135Met)	SOHLH1 (T135M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227668	NM_001101677.2(SOHLH1):c.388G>A (p.Asp130Asn)	SOHLH1 (D130N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2224626	NM_001101677.2(SOHLH1):c.772G>A (p.Gly258Arg)	SOHLH1 (G258R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203758	GRCh38/hg38 9q34.3(chr9:134962336-137240181)x1	LOC124375251, LOC126860788 +265 more	Copy number loss	See cases	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1412257	NC_000009.11:g.(?_138585443)_(138606586_?)dup	KCNT1, SOHLH1	Duplication	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 1372096	NC_000009.11:g.(?_137534034)_(139440238_?)dup	C9orf163, CAMSAP1 +29 more	Duplication	Adams-Oliver syndrome 5 +1 more	GUncertain significance
Select item 1256014	NM_001101677.2(SOHLH1):c.244C>G (p.Gln82Glu)	SOHLH1 (Q82E)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 1237645	NC_000009.12:g.135702028_135702029insCCTGGACCCTC	KCNT1, LOC130002976 +1 more	Insertion (genic upstream transcript variant)	not provided	GBenign
Select item 1029080	NM_001101677.2(SOHLH1):c.745C>T (p.Gln249Ter)	SOHLH1 (Q249*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 929394	GRCh37/hg19 9q34.3(chr9:137880493-138781516)x3	PPP1R26, SOHLH1 +11 more	Copy number gain	See cases	GUncertain significance
Select item 813716	GRCh37/hg19 9q34.3(chr9:138225001-141015001)	ABCA2, AGPAT2 +88 more	Copy number loss	Microcephaly	GPathogenic
Select item 781670	NM_001101677.2(SOHLH1):c.210G>A (p.Ser70=)	SOHLH1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780839	NM_001101677.2(SOHLH1):c.1082C>T (p.Pro361Leu)	SOHLH1 (P361L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 779346	NM_001101677.2(SOHLH1):c.468-9T>C	SOHLH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 772940	NM_001101677.2(SOHLH1):c.916C>A (p.Leu306Met)	SOHLH1 (L306M)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 771170	NM_001101677.2(SOHLH1):c.110= (p.Arg37=)	SOHLH1	Variation (no sequence alteration)	not provided	GBenign
Select item 762677	NM_001101677.2(SOHLH1):c.738G>A (p.Pro246=)	SOHLH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 747655	NM_001101677.2(SOHLH1):c.771C>T (p.Ser257=)	SOHLH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736461	NM_001101677.2(SOHLH1):c.562A>G (p.Arg188Gly)	SOHLH1 (R188G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 716396	NM_001101677.2(SOHLH1):c.521C>T (p.Ser174Leu)	SOHLH1 (S174L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 716395	NM_001101677.2(SOHLH1):c.543G>A (p.Pro181=)	SOHLH1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 671737	NM_020822.2(KCNT1):c.-287A>G	KCNT1, SOHLH1	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 652388	NC_000009.11:g.(?_134379574)_(138678377_?)dup	ABO, ADAMTS13 +55 more	Duplication	Ehlers-Danlos syndrome, classic type	GUncertain significance

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