SGPL1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 153538	GRCh38/hg38 10q22.1(chr10:70596378-71288228)x3	ADAMTS14, LINC02622 +26 more	Copy number gain	See cases	GUncertain significance
Select item 1624583	NM_003901.4(SGPL1):c.6T>C (p.Pro2=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 430864	NM_003901.4(SGPL1):c.7dup (p.Ser3fs)	SGPL1 (S3fs)	Duplication (frameshift variant)	Nephrotic syndrome 14	GPathogenic
Select item 2129323	NM_003901.4(SGPL1):c.27+7C>A	SGPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1937397	NM_003901.4(SGPL1):c.27+15G>C	SGPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1667255	NM_003901.4(SGPL1):c.28-15C>T	SGPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1550093	NM_003901.4(SGPL1):c.44A>G (p.Tyr15Cys)	SGPL1 (Y15C)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1232847	NM_003901.4(SGPL1):c.61G>T (p.Val21Leu)	SGPL1 (V21L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1925701	NM_003901.4(SGPL1):c.68C>G (p.Ser23Cys)	SGPL1 (S23C)	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 2164212	NM_003901.4(SGPL1):c.73A>G (p.Lys25Glu)	SGPL1 (K25E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867502	NM_003901.4(SGPL1):c.87T>C (p.Tyr29=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 599179	NM_003901.4(SGPL1):c.87del (p.Asn28_Tyr29insTer)	SGPL1	Deletion (nonsense)	Nephrotic syndrome 14	GLikely pathogenic
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 2791643	NM_003901.4(SGPL1):c.132A>G (p.Ala44=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2030611	NM_003901.4(SGPL1):c.134G>A (p.Trp45Ter)	SGPL1 (W45*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 2971252	NM_003901.4(SGPL1):c.144G>T (p.Val48=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1646728	NM_003901.4(SGPL1):c.153G>A (p.Leu51=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2076836	NM_003901.4(SGPL1):c.165G>A (p.Trp55Ter)	SGPL1 (W55*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2779742	NM_003901.4(SGPL1):c.166G>T (p.Gly56Ter)	SGPL1 (G56*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2028547	NM_003901.4(SGPL1):c.171T>C (p.Tyr57=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1958273	NM_003901.4(SGPL1):c.182T>G (p.Phe61Cys)	SGPL1 (F61C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1974054	NM_003901.4(SGPL1):c.192G>C (p.Glu64Asp)	SGPL1 (E64D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2790916	NM_003901.4(SGPL1):c.193+12G>C	SGPL1	Single nucleotide variant (intron 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 1269829	NM_003901.4(SGPL1):c.193+92G>A	SGPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286455	NM_003901.4(SGPL1):c.194-133A>T	SGPL1	Single nucleotide variant (intron variant)	not provided	GBenign
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 2115608	NM_003901.4(SGPL1):c.236G>A (p.Arg79Lys)	SGPL1 (R79K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3021950	NM_003901.4(SGPL1):c.237G>A (p.Arg79=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1944127	NM_003901.4(SGPL1):c.252T>C (p.Ile84=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1931784	NM_003901.4(SGPL1):c.256C>T (p.Arg86Cys)	SGPL1 (R86C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 430863	NM_003901.4(SGPL1):c.261+1G>A	SGPL1	Single nucleotide variant (splice donor variant)	Nephrotic syndrome 14	GPathogenic
Select item 1917161	NM_003901.4(SGPL1):c.261+16G>T	SGPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178854	NM_003901.4(SGPL1):c.262-194A>G	SGPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230615	NM_003901.4(SGPL1):c.262-44T>C	SGPL1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2862931	NM_003901.4(SGPL1):c.262-13_262-12dup	SGPL1	Duplication (intron variant)	not provided	GLikely benign
Select item 1591532	NM_003901.4(SGPL1):c.262-5T>C	SGPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1640969	NM_003901.4(SGPL1):c.267A>T (p.Gln89His)	SGPL1 (Q89H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1714378	NM_003901.4(SGPL1):c.270C>G (p.Asp90Glu)	SGPL1 (D90E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1663554	NM_003901.4(SGPL1):c.273G>A (p.Lys91=)	SGPL1	Single nucleotide variant (synonymous 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 2071985	NM_003901.4(SGPL1):c.312A>G (p.Ser104=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1278701	NM_003901.4(SGPL1):c.321A>G (p.Lys107=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2746097	NM_003901.4(SGPL1):c.333G>T (p.Glu111Asp)	SGPL1 (E111D)	Single nucleotide variant (missense variant)	not provided	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 2078765	NM_003901.4(SGPL1):c.366C>G (p.Ser122Arg)	SGPL1 (S122R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2771802	NM_003901.4(SGPL1):c.397_401del (p.Tyr133fs)	SGPL1 (Y133fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2904901	NM_003901.4(SGPL1):c.396G>A (p.Glu132=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2177117	NM_003901.4(SGPL1):c.406A>T (p.Met136Leu)	SGPL1 (M136L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1464631	NM_003901.4(SGPL1):c.409+8G>A	SGPL1	Single nucleotide variant (intron 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 1269007	NM_003901.4(SGPL1):c.410-161A>T	SGPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289821	NM_003901.4(SGPL1):c.410-115A>T	SGPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2000393	NM_003901.4(SGPL1):c.410-20G>T	SGPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1898581	NM_003901.4(SGPL1):c.410-19A>C	SGPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1947549	NM_003901.4(SGPL1):c.410-8C>G	SGPL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2174234	NM_003901.4(SGPL1):c.411C>T (p.Asp137=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2417739	NM_003901.4(SGPL1):c.413C>T (p.Ala138Val)	SGPL1 (A138V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3254596	NM_003901.4(SGPL1):c.423del (p.Glu142fs)	SGPL1 (E142fs)	Deletion (frameshift variant)	Nephrotic syndrome 14	GPathogenic
Select item 2004058	NM_003901.4(SGPL1):c.440G>C (p.Gly147Ala)	SGPL1 (G147A)	Single nucleotide variant (missense variant)	not provided	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 1941892	NM_003901.4(SGPL1):c.453T>C (p.Ser151=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1909790	NM_003901.4(SGPL1):c.460G>A (p.Glu154Lys)	SGPL1 (E154K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1425072	NM_003901.4(SGPL1):c.463A>G (p.Lys155Glu)	SGPL1 (K155E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2090238	NM_003901.4(SGPL1):c.483G>T (p.Val161=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2111683	NM_003901.4(SGPL1):c.486+20G>A	SGPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230456	NM_003901.4(SGPL1):c.487-228C>T	SGPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285819	NM_003901.4(SGPL1):c.487-95G>A	SGPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1924225	NM_003901.4(SGPL1):c.489T>C (p.Ala163=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2082747	NM_003901.4(SGPL1):c.504A>G (p.Ala168=)	SGPL1	Single nucleotide variant (synonymous 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 2747481	NM_003901.4(SGPL1):c.513C>T (p.Asn171=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2536257	NM_003901.4(SGPL1):c.514C>T (p.Pro172Ser)	SGPL1 (P172S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1935464	NM_003901.4(SGPL1):c.534C>T (p.Phe178=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1495622	NM_003901.4(SGPL1):c.544C>T (p.Arg182Cys)	SGPL1 (R182C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2136874	NM_003901.4(SGPL1):c.551T>C (p.Ile184Thr)	SGPL1 (I184T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1251626	NM_003901.4(SGPL1):c.564C>T (p.Ile188=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1971070	NM_003901.4(SGPL1):c.590A>G (p.Asn197Ser)	SGPL1 (N197S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1936857	NM_003901.4(SGPL1):c.597A>T (p.Gly199=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2176347	NM_003901.4(SGPL1):c.606G>A (p.Ser202=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1470601	NM_003901.4(SGPL1):c.615+6T>G	SGPL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1959704	NM_003901.4(SGPL1):c.615+15G>A	SGPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1262257	NM_003901.4(SGPL1):c.615+217G>A	SGPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264821	NM_003901.4(SGPL1):c.616-48G>A	SGPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2785088	NM_003901.4(SGPL1):c.616-19C>T	SGPL1	Single nucleotide variant (intron 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

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