"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "SOHLH1" - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 772940	NM_001101677.2(SOHLH1):c.916C>A (p.Leu306Met)	SOHLH1 (L306M)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 747655	NM_001101677.2(SOHLH1):c.771C>T (p.Ser257=)	SOHLH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1029080	NM_001101677.2(SOHLH1):c.745C>T (p.Gln249Ter)	SOHLH1 (Q249*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 762677	NM_001101677.2(SOHLH1):c.738G>A (p.Pro246=)	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 716395	NM_001101677.2(SOHLH1):c.543G>A (p.Pro181=)	SOHLH1	Single nucleotide variant (synonymous 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 779346	NM_001101677.2(SOHLH1):c.468-9T>C	SOHLH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 560884	NM_001101677.2(SOHLH1):c.346-1G>A	SOHLH1	Single nucleotide variant (splice acceptor variant)	Ovarian dysgenesis 5 +1 more	GConflicting classifications of pathogenicity
Select item 781670	NM_001101677.2(SOHLH1):c.210G>A (p.Ser70=)	SOHLH1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 771170	NM_001101677.2(SOHLH1):c.110= (p.Arg37=)	SOHLH1	Variation (no sequence alteration)	not provided	GBenign
Select item 3245294	NC_000009.11:g.(?_131678355)_(140095163_?)dup	HMCN2, IER5L +147 more	Duplication	not provided	GUncertain significance
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	ABCA2, AGPAT2 +85 more	Deletion	Developmental and epileptic encephalopathy, 14 +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 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	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
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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Items: 20