"GeneDx"[submitter] AND "SGPL1"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 1278701	NM_003901.4(SGPL1):c.321A>G (p.Lys107=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 1425072	NM_003901.4(SGPL1):c.463A>G (p.Lys155Glu)	SGPL1 (K155E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1251626	NM_003901.4(SGPL1):c.564C>T (p.Ile188=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 1281265	NM_003901.4(SGPL1):c.723C>T (p.Ala241=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1241726	NM_003901.4(SGPL1):c.810+29G>A	SGPL1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1242362	NM_003901.4(SGPL1):c.942C>T (p.Val314=)	SGPL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1445356	NM_003901.4(SGPL1):c.993C>G (p.Tyr331Ter)	SGPL1 (Y331*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1285788	NM_003901.4(SGPL1):c.1059+77C>T	SGPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1310455	NM_003901.4(SGPL1):c.1067A>G (p.Tyr356Cys)	SGPL1 (Y356C)	Single nucleotide variant (missense variant)	Nephrotic syndrome 14 +1 more	GUncertain significance
Select item 1263325	NM_003901.4(SGPL1):c.1298+112C>T	SGPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222542	NM_003901.4(SGPL1):c.1298+156C>T	SGPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226535	NM_003901.4(SGPL1):c.1299-10_1299-9del	SGPL1	Deletion (intron variant)	Nephrotic syndrome 14 +1 more	GBenign
Select item 1294923	NM_003901.4(SGPL1):c.1566+32T>G	SGPL1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 715776	NM_003901.4(SGPL1):c.1693C>T (p.Pro565Ser)	SGPL1 (P565S)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign

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Items: 28