ClinVar for Gene (Select 9905) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3317986	NM_014853.3(SGSM2):c.3091C>G (p.Gln1031Glu)	SGSM2 (Q1031E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317985	NM_014853.3(SGSM2):c.2473G>C (p.Ala825Pro)	SGSM2 (A780P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317984	NM_014853.3(SGSM2):c.1006G>A (p.Gly336Ser)	SGSM2 (G336S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317983	NM_014853.3(SGSM2):c.1283A>C (p.Glu428Ala)	SGSM2 (E428A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317982	NM_014853.3(SGSM2):c.2311G>C (p.Gly771Arg)	SGSM2 (G726R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317981	NM_014853.3(SGSM2):c.5G>T (p.Gly2Val)	SGSM2 (G2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317980	NM_014853.3(SGSM2):c.1658G>A (p.Arg553His)	SGSM2 (R508H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317979	NM_014853.3(SGSM2):c.1849C>T (p.Arg617Cys)	SGSM2 (R572C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317977	NM_014853.3(SGSM2):c.727G>A (p.Ala243Thr)	SGSM2 (A243T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317976	NM_014853.3(SGSM2):c.1670C>T (p.Thr557Met)	SGSM2 (T512M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317975	NM_014853.3(SGSM2):c.2177A>G (p.Glu726Gly)	SGSM2 (E726G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317974	NM_014853.3(SGSM2):c.472A>G (p.Lys158Glu)	SGSM2 (K158E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317973	NM_014853.3(SGSM2):c.2467T>C (p.Cys823Arg)	SGSM2 (C778R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317972	NM_014853.3(SGSM2):c.1313C>T (p.Ala438Val)	SGSM2 (A438V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317971	NM_014853.3(SGSM2):c.2789G>A (p.Arg930His)	SGSM2 (R885H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3243118	NC_000017.10:g.(?_1648982)_(2583634_?)del	DPH1, HIC1 +15 more	Deletion	not provided	GPathogenic
Select item 3161098	NM_014853.3(SGSM2):c.812A>C (p.Glu271Ala)	SGSM2 (E271A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161097	NM_014853.3(SGSM2):c.764G>A (p.Arg255Gln)	SGSM2 (R255Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161096	NM_014853.3(SGSM2):c.73G>A (p.Glu25Lys)	SGSM2 (E25K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161095	NM_014853.3(SGSM2):c.586C>T (p.Pro196Ser)	SGSM2 (P196S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161094	NM_014853.3(SGSM2):c.3079C>T (p.His1027Tyr)	SGSM2 (H982Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161093	NM_014853.3(SGSM2):c.266T>C (p.Val89Ala)	SGSM2 (V89A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161092	NM_014853.3(SGSM2):c.2499C>A (p.Asp833Glu)	SGSM2 (D833E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161091	NM_014853.3(SGSM2):c.2486T>C (p.Ile829Thr)	SGSM2 (I784T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161090	NM_014853.3(SGSM2):c.2479T>G (p.Tyr827Asp)	SGSM2 (Y782D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161089	NM_014853.3(SGSM2):c.2458G>T (p.Ala820Ser)	SGSM2 (A775S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161088	NM_014853.3(SGSM2):c.2395G>C (p.Glu799Gln)	SGSM2 (E799Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161087	NM_014853.3(SGSM2):c.2227G>A (p.Val743Met)	SGSM2 (V698M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161085	NM_014853.3(SGSM2):c.2065C>T (p.Arg689Cys)	SGSM2 (R644C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161084	NM_014853.3(SGSM2):c.2006C>T (p.Ala669Val)	SGSM2 (A669V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161083	NM_014853.3(SGSM2):c.191G>A (p.Arg64His)	SGSM2 (R64H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161082	NM_014853.3(SGSM2):c.1828G>A (p.Gly610Arg)	SGSM2 (G565R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161081	NM_014853.3(SGSM2):c.1621G>A (p.Val541Met)	SGSM2 (V496M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161080	NM_014853.3(SGSM2):c.1324G>A (p.Ala442Thr)	SGSM2 (A442T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161079	NM_014853.3(SGSM2):c.1282G>A (p.Glu428Lys)	SGSM2 (E428K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161078	NM_014853.3(SGSM2):c.1270G>A (p.Gly424Ser)	SGSM2 (G424S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161077	NM_014853.3(SGSM2):c.1033G>C (p.Asp345His)	SGSM2 (D345H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063527	GRCh37/hg19 17p13.3(chr17:1505119-3010963)x1	CLUH, DPH1 +26 more	Copy number loss	not specified	GPathogenic
Select item 3063512	GRCh37/hg19 17p13.3(chr17:2264478-2570762)x3	METTL16, MNT +2 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063492	GRCh37/hg19 17p13.3(chr17:2075954-2262703)x3	SGSM2, SMG6 +2 more	Copy number gain	not specified	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	not specified	GPathogenic
Select item 2685590	GRCh37/hg19 17p13.3-13.2(chr17:526-3441645)x1	ABR, ASPA +57 more	Copy number loss	not provided	GPathogenic
Select item 2684832	GRCh37/hg19 17p13.3(chr17:2014070-2262703)x3	SGSM2, SMG6 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2684825	GRCh37/hg19 17p13.3(chr17:526-2687966)x3	ABR, BHLHA9 +42 more	Copy number gain	not provided	GPathogenic
Select item 2671597	Single allele	ABR, ALOX15 +80 more	Deletion	not provided	GPathogenic
Select item 2617405	NM_014853.3(SGSM2):c.2069T>G (p.Leu690Arg)	SGSM2 (L645R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612986	NM_014853.3(SGSM2):c.430G>T (p.Val144Phe)	SGSM2 (V144F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598092	NM_014853.3(SGSM2):c.2437C>A (p.Leu813Met)	SGSM2 (L813M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2561585	NM_014853.3(SGSM2):c.3104G>A (p.Arg1035Gln)	SGSM2 (R1035Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559113	NM_014853.3(SGSM2):c.693C>G (p.Ser231Arg)	SGSM2 (S231R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553265	NM_014853.3(SGSM2):c.2359T>C (p.Ser787Pro)	SGSM2 (S742P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529053	NM_014853.3(SGSM2):c.2590C>G (p.Leu864Val)	SGSM2 (L819V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522278	NM_014853.3(SGSM2):c.2620G>C (p.Glu874Gln)	SGSM2 (E829Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519982	NM_014853.3(SGSM2):c.563C>G (p.Thr188Arg)	SGSM2 (T188R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518807	NM_014853.3(SGSM2):c.1742C>T (p.Ala581Val)	SGSM2 (A581V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516622	NM_014853.3(SGSM2):c.770G>A (p.Arg257Gln)	SGSM2 (R257Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515720	NM_014853.3(SGSM2):c.1837G>A (p.Glu613Lys)	SGSM2 (E613K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512635	NM_014853.3(SGSM2):c.208G>A (p.Ala70Thr)	SGSM2 (A70T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511260	NM_014853.3(SGSM2):c.1441G>A (p.Glu481Lys)	SGSM2 (E436K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509090	NM_014853.3(SGSM2):c.934G>A (p.Val312Ile)	SGSM2 (V312I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508320	NM_014853.3(SGSM2):c.1741G>A (p.Ala581Thr)	SGSM2 (A581T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508112	NM_014853.3(SGSM2):c.1415C>T (p.Pro472Leu)	SGSM2 (P472L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484189	NM_014853.3(SGSM2):c.1231G>A (p.Gly411Arg)	SGSM2 (G411R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475471	NM_014853.3(SGSM2):c.27A>C (p.Lys9Asn)	SGSM2 (K9N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474830	NM_014853.3(SGSM2):c.730C>T (p.Arg244Cys)	SGSM2 (R244C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465434	NM_014853.3(SGSM2):c.611G>A (p.Arg204Gln)	SGSM2 (R204Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463637	NM_014853.3(SGSM2):c.658C>T (p.Arg220Cys)	SGSM2 (R220C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455985	NM_014853.3(SGSM2):c.190C>T (p.Arg64Cys)	SGSM2 (R64C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454229	NM_014853.3(SGSM2):c.239C>T (p.Pro80Leu)	SGSM2 (P80L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445502	NC_000017.10:g.(?_422368)_(2585096_?)dup	ABR, BHLHA9 +37 more	Duplication	not provided	GUncertain significance
Select item 2400308	NM_014853.3(SGSM2):c.302C>T (p.Pro101Leu)	SGSM2 (P101L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396793	NM_014853.3(SGSM2):c.2341G>C (p.Gly781Arg)	SGSM2 (G736R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384071	NM_014853.3(SGSM2):c.1202G>A (p.Arg401His)	SGSM2 (R401H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368370	NM_014853.3(SGSM2):c.1243G>A (p.Asp415Asn)	SGSM2 (D415N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368137	NM_014853.3(SGSM2):c.2066G>A (p.Arg689His)	SGSM2 (R689H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368068	NM_014853.3(SGSM2):c.2050G>A (p.Asp684Asn)	SGSM2 (D639N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367939	NM_014853.3(SGSM2):c.2363G>A (p.Ser788Asn)	SGSM2 (S743N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347990	NM_014853.3(SGSM2):c.1319G>A (p.Ser440Asn)	SGSM2 (S440N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338318	NM_014853.3(SGSM2):c.2557T>C (p.Tyr853His)	SGSM2 (Y808H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327311	NM_014853.3(SGSM2):c.2060T>C (p.Val687Ala)	SGSM2 (V642A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320648	NM_014853.3(SGSM2):c.2542A>G (p.Arg848Gly)	SGSM2 (R848G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319984	NM_014853.3(SGSM2):c.16G>A (p.Asp6Asn)	SGSM2 (D6N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312096	NM_014853.3(SGSM2):c.317A>C (p.Gln106Pro)	SGSM2 (Q106P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301042	NM_014853.3(SGSM2):c.1654T>G (p.Cys552Gly)	SGSM2 (C552G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298760	NM_014853.3(SGSM2):c.2045G>T (p.Ser682Ile)	SGSM2 (S637I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290757	NM_014853.3(SGSM2):c.1207G>T (p.Val403Leu)	SGSM2 (V403L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280639	NM_014853.3(SGSM2):c.3085G>A (p.Asp1029Asn)	SGSM2 (D984N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257119	NM_014853.3(SGSM2):c.3023G>A (p.Arg1008His)	SGSM2 (R1008H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249354	NM_014853.3(SGSM2):c.1049C>T (p.Pro350Leu)	SGSM2 (P350L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228489	NM_014853.3(SGSM2):c.2266C>T (p.Arg756Cys)	SGSM2 (R756C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217385	NM_014853.3(SGSM2):c.2423C>G (p.Pro808Arg)	SGSM2 (P763R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214100	NM_014853.3(SGSM2):c.1780G>A (p.Asp594Asn)	SGSM2 (D594N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212450	NM_014853.3(SGSM2):c.176C>T (p.Ala59Val)	SGSM2 (A59V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211801	NM_014853.3(SGSM2):c.175G>A (p.Ala59Thr)	SGSM2 (A59T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808588	GRCh37/hg19 17p13.3(chr17:1377247-2455613)x3	DPH1, HIC1 +24 more	Copy number gain	not provided	GUncertain significance
Select item 1807811	GRCh37/hg19 17p13.3(chr17:2161424-2825460)x1	CLUH, METTL16 +7 more	Copy number loss	not provided	GPathogenic
Select item 1807785	GRCh37/hg19 17p13.3-13.2(chr17:1095592-3484368)x3	ASPA, BHLHA9 +46 more	Copy number gain	not provided	GPathogenic

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