SEMG1[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 2456998	NM_003007.5(SEMG1):c.65T>C (p.Met22Thr)	SEMG1 (M22T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331441	NM_003007.5(SEMG1):c.98C>T (p.Pro33Leu)	SEMG1 (P33L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159938	NM_003007.5(SEMG1):c.188T>C (p.Phe63Ser)	SEMG1 (F63S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379698	NM_003007.5(SEMG1):c.190T>C (p.Ser64Pro)	SEMG1 (S64P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617515	NM_003007.5(SEMG1):c.194T>C (p.Ile65Thr)	SEMG1 (I65T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208968	NM_003007.5(SEMG1):c.218C>T (p.Ala73Val)	SEMG1 (A73V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293976	NM_003007.5(SEMG1):c.244A>C (p.Ser82Arg)	SEMG1 (S82R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528823	NM_003007.5(SEMG1):c.265G>A (p.Ala89Thr)	SEMG1 (A89T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608062	NM_003007.5(SEMG1):c.335A>G (p.Glu112Gly)	SEMG1 (E112G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394909	NM_003007.5(SEMG1):c.338G>A (p.Gly113Asp)	SEMG1 (G113D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159939	NM_003007.5(SEMG1):c.347A>G (p.His116Arg)	SEMG1 (H116R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302046	NM_003007.5(SEMG1):c.395G>A (p.Gly132Glu)	SEMG1 (G132E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373147	NM_003007.5(SEMG1):c.400A>C (p.Lys134Gln)	SEMG1 (K134Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3159940	NM_003007.5(SEMG1):c.443A>C (p.Asn148Thr)	SEMG1 (N148T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288779	NM_003007.5(SEMG1):c.514A>C (p.Ser172Arg)	SEMG1 (S172R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406581	NM_003007.5(SEMG1):c.565G>A (p.Gly189Arg)	SEMG1 (G189R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362542	NM_003007.5(SEMG1):c.634A>G (p.Asn212Asp)	SEMG1 (N212D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458561	NM_003007.5(SEMG1):c.638C>T (p.Ser213Phe)	SEMG1 (S213F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159941	NM_003007.5(SEMG1):c.647A>G (p.Asn216Ser)	SEMG1 (N216S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564901	NM_003007.5(SEMG1):c.689A>T (p.His230Leu)	SEMG1 (H230L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512418	NM_003007.5(SEMG1):c.696T>A (p.Ser232Arg)	SEMG1 (S232R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159943	NM_003007.5(SEMG1):c.755A>G (p.Asp252Gly)	SEMG1 (D252G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317423	NM_003007.5(SEMG1):c.758T>C (p.Ile253Thr)	SEMG1 (I253T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159944	NM_003007.5(SEMG1):c.804C>G (p.His268Gln)	SEMG1 (H268Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409919	NM_003007.5(SEMG1):c.832C>G (p.Gln278Glu)	SEMG1 (Q278E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2287337	NM_003007.5(SEMG1):c.858A>G (p.Ile286Met)	SEMG1 (I286M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209282	NM_003007.5(SEMG1):c.1027G>A (p.Ala343Thr)	SEMG1 (A343T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568177	NM_003007.5(SEMG1):c.1028C>T (p.Ala343Val)	SEMG1 (A343V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357278	NM_003007.5(SEMG1):c.1040C>T (p.Ser347Leu)	SEMG1 (S347L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207273	NM_003007.5(SEMG1):c.1058C>T (p.Thr353Met)	SEMG1 (T353M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357496	NM_003007.5(SEMG1):c.1067G>A (p.Arg356Lys)	SEMG1 (R356K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490418	NM_003007.5(SEMG1):c.1198G>A (p.Gly400Ser)	SEMG1 (G400S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235032	NM_003007.5(SEMG1):c.1243C>G (p.Gln415Glu)	SEMG1 (Q415E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159936	NM_003007.5(SEMG1):c.1307T>C (p.Ile436Thr)	SEMG1 (I436T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159937	NM_003007.5(SEMG1):c.1342C>T (p.His448Tyr)	SEMG1 (H448Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257784	NM_003007.5(SEMG1):c.1348G>A (p.Ala450Thr)	SEMG1 (A450T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2485575	NM_003007.5(SEMG1):c.1368C>G (p.Asp456Glu)	SEMG1 (D456E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248279	NC_000020.10:g.(?_42223339)_(45362473_?)del	ACOT8, ADA +72 more	Deletion	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 2425559	NC_000020.10:g.(?_42223339)_(44638757_?)del	ACOT8, ADA +60 more	Deletion	Combined immunodeficiency due to STK4 deficiency	GPathogenic
Select item 1330181	GRCh37/hg19 20q13.12-13.13(chr20:42985044-48599046)x1	PREX1, PTGIS +79 more	Copy number loss	Developmental and epileptic encephalopathy, 26	GPathogenic
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic

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Items: 46