SERINC2[gene] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	TXLNA, UBXN11 +1145 more	Copy number gain	See cases	GPathogenic
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic
Select item 146124	GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)x1	ADGRB2, AK2 +293 more	Copy number loss	See cases	GPathogenic
Select item 59931	GRCh38/hg38 1p35.2-35.1(chr1:30766758-33359428)x1	LOC129929990, LOC129929991 +214 more	Copy number loss	See cases	GPathogenic
Select item 154853	GRCh38/hg38 1p35.2(chr1:30864842-32021241)x3	ADGRB2, COL16A1 +78 more	Copy number gain	See cases	GUncertain significance
Select item 58059	GRCh38/hg38 1p35.2-35.1(chr1:31122108-32402160)x3	LOC129930033, LOC129930034 +117 more	Copy number gain	See cases	GPathogenic
Select item 2458771	NM_178865.5(SERINC2):c.181G>A (p.Val61Met)	SERINC2 (V70M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393352	NM_178865.5(SERINC2):c.206C>T (p.Pro69Leu)	SERINC2 (P73L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267271	NM_178865.5(SERINC2):c.209G>C (p.Trp70Ser)	SERINC2 (W79S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513490	NM_178865.5(SERINC2):c.224G>A (p.Gly75Glu)	SERINC2 (G75E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788760	NM_178865.5(SERINC2):c.228C>T (p.Ala76=)	SERINC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2601100	NM_178865.5(SERINC2):c.241G>A (p.Val81Ile)	SERINC2 (V26I +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 785935	NM_178865.5(SERINC2):c.259G>A (p.Asp87Asn)	SERINC2 (D32N +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2282485	NM_178865.5(SERINC2):c.281A>G (p.Tyr94Cys)	SERINC2 (Y98C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160254	NM_178865.5(SERINC2):c.284G>A (p.Arg95His)	SERINC2 (R104H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160255	NM_178865.5(SERINC2):c.295C>T (p.Arg99Cys)	SERINC2 (R103C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160256	NM_178865.5(SERINC2):c.296G>A (p.Arg99His)	SERINC2 (R103H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276904	NM_178865.5(SERINC2):c.326T>C (p.Phe109Ser)	SERINC2 (F118S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405542	NM_178865.5(SERINC2):c.344T>C (p.Met115Thr)	SERINC2 (M115T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405543	NM_178865.5(SERINC2):c.347T>A (p.Leu116His)	SERINC2 (L125H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405544	NM_178865.5(SERINC2):c.349T>A (p.Cys117Ser)	SERINC2 (C121S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405545	NM_178865.5(SERINC2):c.352G>A (p.Val118Met)	SERINC2 (V118M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638601	NM_178865.5(SERINC2):c.364C>T (p.Arg122Trp)	SERINC2 (R122W +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2638600	NM_178865.5(SERINC2):c.364C>G (p.Arg122Gly)	SERINC2 (R122G +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2516224	NM_178865.5(SERINC2):c.373C>T (p.Arg125Trp)	SERINC2 (R125W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356725	NM_178865.5(SERINC2):c.382A>T (p.Ile128Phe)	SERINC2 (I128F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406822	NM_178865.5(SERINC2):c.433G>A (p.Val145Met)	SERINC2 (V149M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160257	NM_178865.5(SERINC2):c.437G>A (p.Gly146Asp)	SERINC2 (G91D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598153	NM_178865.5(SERINC2):c.457G>A (p.Gly153Ser)	SERINC2 (G157S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160258	NM_178865.5(SERINC2):c.547C>T (p.His183Tyr)	SERINC2 (H183Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381169	NM_178865.5(SERINC2):c.563G>C (p.Arg188Pro)	SERINC2 (R133P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220948	NM_178865.5(SERINC2):c.580G>A (p.Glu194Lys)	SERINC2 (E194K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370677	NM_178865.5(SERINC2):c.595C>T (p.Arg199Cys)	SERINC2 (R208C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472118	NM_178865.5(SERINC2):c.596G>A (p.Arg199His)	SERINC2 (R203H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274405	NM_178865.5(SERINC2):c.607G>A (p.Ala203Thr)	SERINC2 (A203T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268036	NM_178865.5(SERINC2):c.613C>T (p.Leu205Phe)	SERINC2 (L205F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255198	NM_178865.5(SERINC2):c.658G>A (p.Val220Met)	SERINC2 (V165M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160259	NM_178865.5(SERINC2):c.703G>A (p.Glu235Lys)	SERINC2 (E244K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405467	NM_178865.5(SERINC2):c.749T>C (p.Val250Ala)	SERINC2 (V254A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323559	NM_178865.5(SERINC2):c.830A>C (p.Tyr277Ser)	LOC110594336, SERINC2 (Y222S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787526	NM_178865.5(SERINC2):c.888_889del (p.His297fs)	LOC110594336, SERINC2 (H242fs +3 more)	Deletion (frameshift variant)	not provided	GBenign
Select item 3160260	NM_178865.5(SERINC2):c.886C>A (p.Pro296Thr)	LOC110594336, SERINC2 (P241T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160261	NM_178865.5(SERINC2):c.913G>A (p.Glu305Lys)	LOC110594336, SERINC2 (E309K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285414	NM_178865.5(SERINC2):c.1018C>T (p.Arg340Cys)	LOC110594336, SERINC2 (R285C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367571	NM_178865.5(SERINC2):c.1019G>A (p.Arg340His)	LOC110594336, SERINC2 (R344H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206139	NM_178865.5(SERINC2):c.1033C>T (p.Arg345Trp)	LOC110594336, SERINC2 (R345W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596999	NM_178865.5(SERINC2):c.1034G>A (p.Arg345Gln)	LOC110594336, SERINC2 (R290Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260868	NM_178865.5(SERINC2):c.1084G>A (p.Ala362Thr)	LOC110594336, SERINC2 (A307T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160248	NM_178865.5(SERINC2):c.1124G>A (p.Arg375Gln)	LOC110594336, SERINC2 (R320Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359635	NM_178865.5(SERINC2):c.1142A>G (p.Gln381Arg)	LOC110594336, SERINC2 (Q326R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596222	NM_178865.5(SERINC2):c.1147G>A (p.Gly383Ser)	LOC110594336, SERINC2 (G383S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521080	NM_178865.5(SERINC2):c.1150G>A (p.Val384Ile)	LOC110594336, SERINC2 (V388I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522971	NM_178865.5(SERINC2):c.1204G>A (p.Val402Ile)	LOC110594336, SERINC2 (V406I +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3160249	NM_178865.5(SERINC2):c.1212G>A (p.Met404Ile)	LOC110594336, SERINC2 (M408I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160250	NM_178865.5(SERINC2):c.1237G>A (p.Gly413Ser)	LOC110594336, SERINC2 (G358S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638602	NM_178865.5(SERINC2):c.1263G>A (p.Thr421=)	LOC110594336, SERINC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3160251	NM_178865.5(SERINC2):c.1270G>A (p.Ala424Thr)	LOC110594336, SERINC2 (A424T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358821	NM_178865.5(SERINC2):c.1334C>T (p.Ala445Val)	LOC110594336, SERINC2 (A449V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160253	NM_178865.5(SERINC2):c.1354C>T (p.Arg452Cys)	LOC110594336, SERINC2 (R456C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526540	GRCh37/hg19 1p36.11-35.1(chr1:27543877-32819121)	GPR3, PTPRU +66 more	Copy number gain	not specified	GUncertain significance
Select item 1340269	GRCh37/hg19 1p35.2(chr1:31766058-31921862)x1	FABP3, SERINC2 +2 more	Copy number loss	not provided	GUncertain significance
Select item 814067	GRCh37/hg19 1p35.2-35.1(chr1:30819875-34380419)x3	TMEM54, RBBP4 +51 more	Copy number gain	not provided	GLikely pathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 66