SCG3[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146334	GRCh38/hg38 15q21.1-21.2(chr15:47460844-52494222)x1	AP4E1, ATP8B4 +190 more	Copy number loss	See cases	GPathogenic
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	LOC130057143, LOC130057144 +287 more	Copy number loss	See cases	GPathogenic
Select item 147481	GRCh38/hg38 15q21.2-21.3(chr15:51276690-57088386)x1	ARPP19, ATOSA +176 more	Copy number loss	See cases	GPathogenic
Select item 1342357	NC_000015.10:g.51681311_51791472dup	LOC121530581, LOC130057054 +13 more	Duplication	Developmental and epileptic encephalopathy, 13	GUncertain significance
Select item 2596444	NM_013243.4(SCG3):c.152A>G (p.Glu51Gly)	SCG3 (E51G)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2388620	NM_013243.4(SCG3):c.289T>C (p.Ser97Pro)	SCG3 (S97P)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 777461	NM_013243.4(SCG3):c.312T>C (p.Asn104=)	SCG3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2496426	NM_013243.4(SCG3):c.361G>C (p.Asp121His)	SCG3 (D121H)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2645349	NM_013243.4(SCG3):c.381G>A (p.Leu127=)	SCG3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1801461	NM_013243.4(SCG3):c.398-1539_398-1538insCAACTGCAACTGGCTGGTGGACTTGGAACTTTTTTTTCTCTCACTTGCCTGGAAAAGTGCAAGGCAAGAACCTGAGAAACGAGCCTGTTATGCAGACCCAAATCATCCTTGCGATGGGCTGTT	SCG3	Insertion (intron variant)	Schizophrenia	GUncertain significance
Select item 2343051	NM_013243.4(SCG3):c.428G>A (p.Gly143Glu)	SCG3 (G143E)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2383952	NM_013243.4(SCG3):c.538C>T (p.Leu180Phe)	SCG3 (L180F)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2483860	NM_013243.4(SCG3):c.649A>G (p.Ser217Gly)	SCG3 (S217G)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2568700	NM_013243.4(SCG3):c.691A>G (p.Thr231Ala)	SCG3 (T231A)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2570104	NM_013243.4(SCG3):c.698T>A (p.Met233Lys)	SCG3 (M1K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2244615	NM_013243.4(SCG3):c.738T>G (p.Asp246Glu)	SCG3 (D14E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2412469	NM_013243.4(SCG3):c.835A>G (p.Asn279Asp)	LOC121530581, SCG3 (N279D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351030	NM_013243.4(SCG3):c.920T>C (p.Ile307Thr)	SCG3 (I307T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547392	NM_013243.4(SCG3):c.953C>A (p.Thr318Lys)	SCG3 (T86K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254207	NM_013243.4(SCG3):c.1016C>A (p.Thr339Asn)	SCG3 (T107N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332660	NM_013243.4(SCG3):c.1076C>T (p.Ser359Leu)	SCG3 (S127L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221245	NM_013243.4(SCG3):c.1089T>G (p.His363Gln)	SCG3 (H131Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254289	NM_013243.4(SCG3):c.1184G>A (p.Gly395Glu)	SCG3 (G163E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2685513	GRCh37/hg19 15q21.1-21.3(chr15:49390592-56800964)x1	TMOD2, USP50 +43 more	Copy number loss	not provided	GPathogenic
Select item 2684759	GRCh37/hg19 15q21.2(chr15:51542162-52273119)x3	CYP19A1, DMXL2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2423931	NC_000015.9:g.(?_50731271)_(54025330_?)dup	CYP19A1, TNFAIP8L3 +21 more	Duplication	not provided	GUncertain significance
Select item 2423927	NC_000015.9:g.(?_50999997)_(54025330_?)del	AP4E1, ARPP19 +18 more	Deletion	Spastic paraplegia	GPathogenic
Select item 1807706	GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3	ADAM10, ALDH1A2 +82 more	Copy number gain	not provided	GPathogenic
Select item 1526453	GRCh37/hg19 15q21.1-21.3(chr15:47635238-56509908)	CEP152, COPS2 +52 more	Copy number loss	not specified	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 988929	GRCh37/hg19 15q21.1-21.3(chr15:48744917-53851050)x1	AP4E1, ARPP19 +35 more	Copy number loss	not provided	GPathogenic
Select item 980039	GRCh37/hg19 15q21.2-21.3(chr15:51792729-55134365)x1	LEO1, TMOD3 +14 more	Copy number loss	not provided	GLikely pathogenic
Select item 688584	GRCh37/hg19 15q21.1-21.3(chr15:49031132-56740397)x3	AP4E1, ARPP19 +47 more	Copy number gain	not provided	GPathogenic
Select item 688472	GRCh37/hg19 15q21.2(chr15:51735136-52620104)x1	BCL2L10, DMXL2 +9 more	Copy number loss	not provided	GUncertain significance
Select item 687424	GRCh37/hg19 15q21.2-21.3(chr15:50083229-53439931)x1	AP4E1, ARPP19 +24 more	Copy number loss	not provided	GUncertain significance
Select item 685183	GRCh37/hg19 15q21.1-22.2(chr15:48000433-60747551)x3	ADAM10, ALDH1A2 +76 more	Copy number gain	not provided	GPathogenic
Select item 564202	GRCh37/hg19 15q21.2-21.3(chr15:50727285-57603305)x3	LYSMD2, ARPP19 +36 more	Copy number gain	not provided	GPathogenic
Select item 564197	GRCh37/hg19 15q15.3-21.3(chr15:43759773-53252240)x1	AP4E1, ARPP19 +76 more	Copy number loss	not provided	GPathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 395389	GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1	ADAL, AP4E1 +107 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	GPR176, GRAMD2A +568 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	AAGAB, ABHD17C +446 more	Copy number gain	See cases	GPathogenic

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Items: 44