ClinVar for Gene (Select 8879) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362888	NM_003901.4(SGPL1):c.1018C>T (p.Arg340Trp)	SGPL1 (R340W)	Single nucleotide variant (missense variant)	Nephrotic syndrome 14	GUncertain significance
Select item 3317944	NM_003901.4(SGPL1):c.1229A>G (p.His410Arg)	SGPL1 (H410R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3317943	NM_003901.4(SGPL1):c.746C>T (p.Ala249Val)	SGPL1 (A249V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3317942	NM_003901.4(SGPL1):c.110A>G (p.Tyr37Cys)	SGPL1 (Y37C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3317941	NM_003901.4(SGPL1):c.775G>A (p.Val259Ile)	SGPL1 (V259I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3317940	NM_003901.4(SGPL1):c.146G>A (p.Trp49Ter)	SGPL1 (W49*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GLikely pathogenic
Select item 3317939	NM_003901.4(SGPL1):c.970G>A (p.Val324Ile)	SGPL1 (V324I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3254596	NM_003901.4(SGPL1):c.423del (p.Glu142fs)	SGPL1 (E142fs)	Deletion (frameshift variant)	Nephrotic syndrome 14	GPathogenic
Select item 3161045	NM_003901.4(SGPL1):c.514C>G (p.Pro172Ala)	SGPL1 (P172A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161044	NM_003901.4(SGPL1):c.412G>T (p.Ala138Ser)	SGPL1 (A138S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161043	NM_003901.4(SGPL1):c.1609A>G (p.Met537Val)	SGPL1 (M537V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161041	NM_003901.4(SGPL1):c.1051A>G (p.Thr351Ala)	SGPL1 (T351A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3066335	NM_003901.4(SGPL1):c.1061A>G (p.Tyr354Cys)	SGPL1 (Y354C)	Single nucleotide variant (missense variant)	Nephrotic syndrome 14	GUncertain significance
Select item 3064890	NM_003901.4(SGPL1):c.1073del (p.Pro358fs)	SGPL1 (P358fs)	Deletion (frameshift variant)	Nephrotic syndrome 14	GUncertain significance
Select item 3064759	NM_003901.4(SGPL1):c.1588dup (p.Gln530fs)	SGPL1 (Q530fs)	Duplication (frameshift variant)	Nephrotic syndrome 14	GLikely pathogenic
Select item 3050185	NM_003901.4(SGPL1):c.843C>T (p.Ala281=)	SGPL1	Single nucleotide variant (synonymous variant)	SGPL1-related disorder	GLikely benign
Select item 3044188	NM_003901.4(SGPL1):c.1458C>T (p.Cys486=)	SGPL1	Single nucleotide variant (synonymous variant)	SGPL1-related disorder	GLikely benign
Select item 3022240	NM_003901.4(SGPL1):c.1233C>T (p.Phe411=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021950	NM_003901.4(SGPL1):c.237G>A (p.Arg79=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995675	NM_003901.4(SGPL1):c.699A>G (p.Pro233=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995348	NM_003901.4(SGPL1):c.1203C>T (p.Ser401=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989894	NM_003901.4(SGPL1):c.142G>A (p.Val48Met)	SGPL1 (V48M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989011	NM_003901.4(SGPL1):c.1298+20G>C	SGPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984172	NM_003901.4(SGPL1):c.1298+20G>A	SGPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973699	NM_003901.4(SGPL1):c.1116G>A (p.Arg372=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972178	NM_003901.4(SGPL1):c.409+15A>T	SGPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971922	NM_003901.4(SGPL1):c.1566+24del	SGPL1	Deletion (intron variant)	not provided	GBenign
Select item 2971252	NM_003901.4(SGPL1):c.144G>T (p.Val48=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968604	NM_003901.4(SGPL1):c.1287C>T (p.Phe429=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967120	NM_003901.4(SGPL1):c.1298+10G>A	SGPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965698	NM_003901.4(SGPL1):c.306C>T (p.Asn102=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959387	NM_003901.4(SGPL1):c.193+20T>C	SGPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955002	NM_003901.4(SGPL1):c.1173C>T (p.Thr391=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2904901	NM_003901.4(SGPL1):c.396G>A (p.Glu132=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887900	NM_003901.4(SGPL1):c.1305A>G (p.Glu435=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881935	NM_003901.4(SGPL1):c.1185A>G (p.Ser395=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879542	NM_003901.4(SGPL1):c.633A>G (p.Thr211=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870128	NM_003901.4(SGPL1):c.1629A>C (p.Ser543=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868818	NM_003901.4(SGPL1):c.1098T>C (p.Tyr366=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868327	NM_003901.4(SGPL1):c.1566+16G>A	SGPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867502	NM_003901.4(SGPL1):c.87T>C (p.Tyr29=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2862931	NM_003901.4(SGPL1):c.262-13_262-12dup	SGPL1	Duplication (intron variant)	not provided	GLikely benign
Select item 2850458	NM_003901.4(SGPL1):c.1446-12C>T	SGPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2827866	NM_003901.4(SGPL1):c.367T>C (p.Ser123Pro)	SGPL1 (S123P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2815831	NM_003901.4(SGPL1):c.1446-4C>T	SGPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2815122	NM_003901.4(SGPL1):c.819A>G (p.Arg273=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2809534	NM_003901.4(SGPL1):c.1495C>G (p.Gln499Glu)	SGPL1 (Q499E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2808978	NM_003901.4(SGPL1):c.1509C>T (p.Asp503=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2798213	NM_003901.4(SGPL1):c.616-14C>A	SGPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2792254	NM_003901.4(SGPL1):c.517dup (p.Leu173fs)	SGPL1 (L173fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2791643	NM_003901.4(SGPL1):c.132A>G (p.Ala44=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2790916	NM_003901.4(SGPL1):c.193+12G>C	SGPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2785088	NM_003901.4(SGPL1):c.616-19C>T	SGPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2781916	NM_003901.4(SGPL1):c.1298+14A>G	SGPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2779742	NM_003901.4(SGPL1):c.166G>T (p.Gly56Ter)	SGPL1 (G56*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2775793	NM_003901.4(SGPL1):c.1566+24dup	SGPL1	Duplication (intron variant)	not provided	GBenign
Select item 2771802	NM_003901.4(SGPL1):c.397_401del (p.Tyr133fs)	SGPL1 (Y133fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2747481	NM_003901.4(SGPL1):c.513C>T (p.Asn171=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2746097	NM_003901.4(SGPL1):c.333G>T (p.Glu111Asp)	SGPL1 (E111D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2709703	NM_003901.4(SGPL1):c.674C>A (p.Ala225Asp)	SGPL1 (A225D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2700466	NM_003901.4(SGPL1):c.72A>C (p.Thr24=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2696698	NM_003901.4(SGPL1):c.1329T>C (p.Phe443=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2640561	NM_003901.4(SGPL1):c.828C>T (p.Ile276=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2582445	NM_003901.4(SGPL1):c.1014T>G (p.Asp338Glu)	SGPL1 (D338E)	Single nucleotide variant (missense variant)	Nephrotic syndrome 14	GUncertain significance
Select item 2577413	NM_003901.4(SGPL1):c.1298+6T>C	SGPL1	Single nucleotide variant (intron variant)	Nephrotic syndrome 14	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2571782	NM_003901.4(SGPL1):c.868T>C (p.Phe290Leu)	SGPL1 (F290L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2548477	NM_003901.4(SGPL1):c.1544C>G (p.Pro515Arg)	SGPL1 (P515R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536257	NM_003901.4(SGPL1):c.514C>T (p.Pro172Ser)	SGPL1 (P172S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530647	NM_003901.4(SGPL1):c.731C>T (p.Ala244Val)	SGPL1 (A244V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509932	NM_003901.4(SGPL1):c.317T>C (p.Leu106Pro)	SGPL1 (L106P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2435916	NM_003901.4(SGPL1):c.452G>A (p.Ser151Asn)	SGPL1 (S151N)	Single nucleotide variant (missense variant)	Nephrotic syndrome 14	GUncertain significance
Select item 2428320	NM_003901.4(SGPL1):c.1019G>A (p.Arg340Gln)	SGPL1 (R340Q)	Single nucleotide variant (missense variant)	Nephrotic syndrome 14 +1 more	GUncertain significance
Select item 2424788	NC_000010.10:g.(?_72576610)_(72648290_?)dup	PCBD1, SGPL1	Duplication	not provided	GUncertain significance
Select item 2418478	NM_003901.4(SGPL1):c.328A>G (p.Lys110Glu)	SGPL1 (K110E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2417739	NM_003901.4(SGPL1):c.413C>T (p.Ala138Val)	SGPL1 (A138V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2415738	NM_003901.4(SGPL1):c.32C>T (p.Ala11Val)	SGPL1 (A11V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2414162	NM_003901.4(SGPL1):c.1261A>G (p.Lys421Glu)	SGPL1 (K421E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2413704	NM_003901.4(SGPL1):c.1551G>A (p.Ala517=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2365724	NM_003901.4(SGPL1):c.205A>G (p.Arg69Gly)	SGPL1 (R69G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326084	NM_003901.4(SGPL1):c.1146G>T (p.Trp382Cys)	SGPL1 (W382C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317021	NM_003901.4(SGPL1):c.808C>T (p.Arg270Trp)	SGPL1 (R270W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262967	NM_003901.4(SGPL1):c.1333A>G (p.Asn445Asp)	SGPL1 (N445D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244166	NM_003901.4(SGPL1):c.334T>C (p.Tyr112His)	SGPL1 (Y112H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221721	NM_003901.4(SGPL1):c.1633T>C (p.Phe545Leu)	SGPL1 (F545L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2199834	NM_003901.4(SGPL1):c.1283G>A (p.Arg428His)	SGPL1 (R428H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2196780	NM_003901.4(SGPL1):c.1638G>A (p.Leu546=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2192712	NM_003901.4(SGPL1):c.959G>C (p.Gly320Ala)	SGPL1 (G320A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2192022	NM_003901.4(SGPL1):c.1657G>A (p.Asp553Asn)	SGPL1 (D553N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2189926	NM_003901.4(SGPL1):c.1687G>A (p.Gly563Ser)	SGPL1 (G563S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2189436	NM_003901.4(SGPL1):c.945C>T (p.Asp315=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2187986	NM_003901.4(SGPL1):c.695C>T (p.Thr232Ile)	SGPL1 (T232I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2184840	NM_003901.4(SGPL1):c.1087T>C (p.Leu363=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2182284	NM_003901.4(SGPL1):c.769G>T (p.Val257Leu)	SGPL1 (V257L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2180587	NM_003901.4(SGPL1):c.1567-3T>G	SGPL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2180288	NM_003901.4(SGPL1):c.1656C>T (p.Thr552=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2178910	NM_003901.4(SGPL1):c.1385G>A (p.Arg462Gln)	SGPL1 (R462Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2178798	NM_003901.4(SGPL1):c.900A>G (p.Glu300=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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