"GeneDx"[submitter] AND "SLC35A2"[gene] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58615	GRCh38/hg38 Xp11.23-11.22(chrX:47859417-52789530)x3	AKAP4, BMP15 +213 more	Copy number gain	See cases	GPathogenic
Select item 1308367	NM_001032382.2(PQBP1):c.640C>T (p.Arg214Trp)	PQBP1, SLC35A2 (R114W +4 more)	Single nucleotide variant (missense variant)	Renpenning syndrome +1 more	GUncertain significance
Select item 871204	NM_001032382.2(PQBP1):c.642-5G>A	PQBP1, SLC35A2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1331131	NM_001032382.2(PQBP1):c.649T>C (p.Trp217Arg)	PQBP1, SLC35A2 (W117R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663400	NM_001032382.2(PQBP1):c.668A>G (p.Lys223Arg)	PQBP1, SLC35A2 (K123R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442711	NM_001032382.2(PQBP1):c.731C>G (p.Pro244Arg)	PQBP1, SLC35A2 (P144R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304107	NM_001032382.2(PQBP1):c.758G>A (p.Arg253Gln)	PQBP1, SLC35A2 (R153Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1245601	NM_005660.3(SLC35A2):c.1164-51G>A	SLC35A2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1310071	NM_005660.3(SLC35A2):c.1096_1163+217delinsCGGGAGG	SLC35A2 (G305fs +5 more)	Indel (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2582197	NM_005660.3(SLC35A2):c.1163+142C>A	SLC35A2 (L215I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 420723	NM_005660.3(SLC35A2):c.1163+44_1163+47del	SLC35A2 (Q206fs +1 more)	Deletion (frameshift variant +2 more)	not specified	GLikely benign
Select item 2573787	NM_005660.3(SLC35A2):c.1147G>A (p.Glu383Lys)	SLC35A2 (E322K +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574543	NM_005660.3(SLC35A2):c.1112C>A (p.Pro371Gln)	SLC35A2 (P310Q +3 more)	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1194058	NM_005660.3(SLC35A2):c.1099C>A (p.Gln367Lys)	SLC35A2 (A146E +5 more)	Single nucleotide variant (missense variant)	SLC35A2-related condition +3 more	GUncertain significance
Select item 509462	NM_005660.3(SLC35A2):c.1078G>A (p.Val360Ile)	SLC35A2 (V360I +5 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 412236	NM_005660.3(SLC35A2):c.1058CCTCCG[1] (p.349AS[3])	SLC35A2	Microsatellite (inframe_deletion)	SLC35A2-congenital disorder of glycosylation +1 more	GBenign/Likely benign
Select item 507814	NM_005660.3(SLC35A2):c.1062C>T (p.Ser354=)	SLC35A2 (R158C +1 more)	Single nucleotide variant (missense variant +1 more)	SLC35A2-congenital disorder of glycosylation +3 more	GBenign/Likely benign
Select item 50364	NM_005660.3(SLC35A2):c.991G>A (p.Val331Ile)	SLC35A2 (V331I +3 more)	Single nucleotide variant (missense variant +1 more)	SLC35A2-congenital disorder of glycosylation +1 more	GPathogenic
Select item 383041	NM_005660.3(SLC35A2):c.990C>T (p.Leu330=)	SLC35A2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 430450	NM_005660.3(SLC35A2):c.944T>C (p.Leu315Pro)	SLC35A2 (L315P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 679074	NM_005660.3(SLC35A2):c.691G>A (p.Val231Met)	SLC35A2 (V170M +3 more)	Single nucleotide variant (missense variant +1 more)	SLC35A2-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 373073	NM_005660.3(SLC35A2):c.634TCC[1] (p.Ser213del)	SLC35A2 (S213del +3 more)	Microsatellite (inframe_deletion +1 more)	not provided	GPathogenic
Select item 390888	NM_005660.3(SLC35A2):c.594C>T (p.Asn198=)	SLC35A2	Single nucleotide variant (synonymous variant +1 more)	SLC35A2-congenital disorder of glycosylation +1 more	GLikely benign
Select item 941332	NM_005660.3(SLC35A2):c.562G>A (p.Gly188Ser)	SLC35A2 (G127S +3 more)	Single nucleotide variant (missense variant +1 more)	SLC35A2-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 383300	NM_005660.3(SLC35A2):c.561C>T (p.Ala187=)	SLC35A2	Single nucleotide variant (synonymous variant +1 more)	SLC35A2-congenital disorder of glycosylation +2 more	GBenign/Likely benign
Select item 647909	NM_005660.3(SLC35A2):c.497G>A (p.Arg166Gln)	SLC35A2 (R179Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1640346	NM_005660.3(SLC35A2):c.496C>T (p.Arg166Trp)	SLC35A2 (R105W +3 more)	Single nucleotide variant (missense variant +1 more)	SLC35A2-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 1695626	NM_005660.3(SLC35A2):c.484C>A (p.Arg162Ser)	SLC35A2 (R101S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 512042	NM_005660.3(SLC35A2):c.447C>A (p.Ile149=)	SLC35A2	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 1250199	NM_005660.3(SLC35A2):c.426+188=	SLC35A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216413	NM_005660.3(SLC35A2):c.426+65A>G	SLC35A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2442756	NM_005660.3(SLC35A2):c.367A>G (p.Thr123Ala)	SLC35A2 (T123A +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 452277	NM_005660.3(SLC35A2):c.346G>C (p.Ala116Pro)	SLC35A2 (A116P +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2412867	NM_005660.3(SLC35A2):c.343C>T (p.Leu115Phe)	SLC35A2 (L115F +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 412238	NM_005660.3(SLC35A2):c.274+5G>A	SLC35A2	Single nucleotide variant (intron variant)	SLC35A2-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 392307	NM_005660.3(SLC35A2):c.236G>T (p.Gly79Val)	SLC35A2 (G79V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 385814	NM_005660.3(SLC35A2):c.90G>C (p.Ala30=)	SLC35A2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 695628	NM_005660.3(SLC35A2):c.72G>T (p.Glu24Asp)	SLC35A2 (E24D)	Single nucleotide variant (missense variant +1 more)	SLC35A2-congenital disorder of glycosylation +2 more	GBenign/Likely benign
Select item 1202420	NM_005660.3(SLC35A2):c.59C>T (p.Ala20Val)	SLC35A2 (A20V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1695635	NM_005660.3(SLC35A2):c.56C>T (p.Ser19Phe)	SLC35A2 (S19F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 380583	NM_005660.3(SLC35A2):c.43C>A (p.Pro15Thr)	SLC35A2 (P15T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GBenign
Select item 474047	NM_005660.3(SLC35A2):c.30C>G (p.Thr10=)	SLC35A2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 817834	NM_005660.3(SLC35A2):c.7del (p.Ala3fs)	SLC35A2 (A3fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 392100	NM_005660.3(SLC35A2):c.1A>G (p.Met1Val)	SLC35A2 (M1V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 389642	NM_005660.3(SLC35A2):c.-8A>G	SLC35A2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 507148	NM_001042498.2(SLC35A2):c.-19G>A	SLC35A2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 507096	NM_005660.2(SLC35A2):c.-40dup	SLC35A2	Duplication (intron variant)	not specified	GLikely benign
Select item 1297785	NM_005660.2(SLC35A2):c.-190T>G	SLC35A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255011	NC_000023.11:g.48912103=	SLC35A2	Single nucleotide variant	not provided	GBenign
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +822 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	GAGE12F, GAGE12G +822 more	Copy number gain	See cases	GPathogenic
Select item 253615	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3	ACE2, ACOT9 +316 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	FOXP3, FOXR2 +786 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	MCTS1, MECP2 +821 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	ABCB7, ABCD1 +821 more	Copy number gain	See cases	GPathogenic
Select item 253571	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1	ACE2, ACOT9 +316 more	Copy number loss	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	ABCB7, ABCD1 +821 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	EOLA2, ERAS +822 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	ABCB7, ABCD1 +822 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	RENBP, REPS2 +821 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	SPANXD, TCEAL4 +822 more	Copy number gain	See cases	GPathogenic
Select item 253436	GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3	ALAS2, AMER1 +250 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARMCX2, CFAP47 +821 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	ABCB7, ABCD1 +821 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	MAGEE2, MTRNR2L10 +822 more	Copy number gain	See cases	GPathogenic

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Items: 65