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

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 903057	NM_001041.4(SI):c.5279G>T (p.Gly1760Val)	SI (G1760V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1125936	NM_001041.4(SI):c.5245C>A (p.Gln1749Lys)	SI (Q1749K)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1417	NM_001041.4(SI):c.5234T>G (p.Phe1745Cys)	SI (F1745C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 265618	NM_001041.4(SI):c.5110C>T (p.Arg1704Ter)	SI (R1704*)	Single nucleotide variant (nonsense)	Sucrase-isomaltase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1418824	NM_001041.4(SI):c.5052T>A (p.His1684Gln)	SI (H1684Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311354	NM_001041.4(SI):c.5052T>G (p.His1684Gln)	SI (H1684Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2069339	NM_001041.4(SI):c.4817C>T (p.Thr1606Ile)	SI (T1606I)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1325070	NM_001041.4(SI):c.4251T>G (p.Tyr1417Ter)	SI (Y1417*)	Single nucleotide variant (nonsense)	Sucrase-isomaltase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 344017	NM_001041.4(SI):c.4099A>G (p.Arg1367Gly)	SI (R1367G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1165074	NM_001041.4(SI):c.3888+19C>T	SI	Single nucleotide variant (intron variant)	Sucrase-isomaltase deficiency +1 more	GBenign
Select item 420501	NM_001041.4(SI):c.3586_3587del (p.Met1196fs)	SI (M1196fs)	Microsatellite (frameshift variant)	Sucrase-isomaltase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 432014	NM_001041.4(SI):c.3370C>T (p.Arg1124Ter)	SI (R1124*)	Single nucleotide variant (nonsense)	Sucrase-isomaltase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 1419	NM_001041.4(SI):c.3218G>A (p.Gly1073Asp)	SI (G1073D)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 418676	NM_001041.4(SI):c.3186_3187del (p.Leu1062_Tyr1063insTer)	SI	Deletion (frameshift variant)	Sucrase-isomaltase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 3369288	NM_001041.4(SI):c.2863T>C (p.Cys955Arg)	SI (C955R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 631912	NM_001041.4(SI):c.2401G>T (p.Glu801Ter)	SI (E801*)	Single nucleotide variant (nonsense)	Congenital sucrose-isomaltase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 976593	NM_001041.4(SI):c.2320A>G (p.Arg774Gly)	SI (R774G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1418	NM_001041.4(SI):c.1730T>G (p.Val577Gly)	SI (V577G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1509117	NM_001041.4(SI):c.1607A>T (p.Asp536Val)	SI (D536V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1308036	NM_001041.4(SI):c.1438C>A (p.Pro480Thr)	SI (P480T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 344054	NM_001041.4(SI):c.1437C>T (p.Asn479=)	SI	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1529728	NM_001041.4(SI):c.1219G>A (p.Gly407Arg)	SI (G407R)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1966710	NM_001041.4(SI):c.1169A>G (p.Asp390Gly)	SI (D390G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 344059	NM_001041.4(SI):c.1146+13A>C	SI	Single nucleotide variant (intron variant)	Sucrase-isomaltase deficiency +1 more	GBenign
Select item 344061	NM_001041.4(SI):c.1043C>T (p.Pro348Leu)	SI (P348L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 489002	NM_001041.4(SI):c.853G>T (p.Glu285Ter)	SI (E285*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1391599	NM_001041.4(SI):c.695G>A (p.Arg232His)	SI (R232H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1517043	NM_001041.4(SI):c.653G>T (p.Gly218Val)	SI (G218V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic
Select item 3361535	NM_001041.4(SI):c.4163T>C (p.Phe1388Ser)	SI (F1388S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 33