"GeneDx"[submitter] AND "GLUD1"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58748	GRCh38/hg38 10q22.3-23.2(chr10:79719429-87358394)x1	ADIRF, ADIRF-AS1 +178 more	Copy number loss	See cases	GPathogenic
Select item 58751	GRCh38/hg38 10q22.3-23.2(chr10:79802022-87358394)x1	ADIRF, ADIRF-AS1 +178 more	Copy number loss	See cases	GPathogenic
Select item 59702	GRCh38/hg38 10q22.3-23.2(chr10:79881238-87182117)x3	SHLD2, SNCG +168 more	Copy number gain	See cases	GPathogenic
Select item 58757	GRCh38/hg38 10q22.3-23.2(chr10:79898516-87109827)x1	LOC130004227, LOC130004228 +168 more	Copy number loss	See cases	GPathogenic
Select item 58755	GRCh38/hg38 10q22.3-23.2(chr10:79898516-87358394)x1	ADIRF, ADIRF-AS1 +175 more	Copy number loss	See cases	GPathogenic
Select item 59703	GRCh38/hg38 10q23.1-23.31(chr10:84434981-89150802)x3	ATAD1, ACTA2 +151 more	Copy number gain	See cases	GPathogenic
Select item 16122	NM_005271.5(GLUD1):c.1493C>T (p.Ser498Leu)	GLUD1 (S498L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 129163	NM_005271.5(GLUD1):c.1470G>A (p.Thr490=)	GLUD1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 259739	NM_005271.5(GLUD1):c.1403-11dup	GLUD1	Duplication (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2135702	NM_005271.5(GLUD1):c.1358G>A (p.Arg453His)	GLUD1 (R453H +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome +1 more	GConflicting classifications of pathogenicity
Select item 129162	NM_005271.5(GLUD1):c.1060-10T>A	GLUD1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 513841	NM_005271.5(GLUD1):c.978A>G (p.Lys326=)	GLUD1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 129164	NM_005271.5(GLUD1):c.942A>G (p.Leu314=)	GLUD1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 533801	NM_005271.5(GLUD1):c.909A>C (p.Thr303=)	GLUD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1809968	NM_005271.5(GLUD1):c.880G>C (p.Gly294Arg)	GLUD1 (G127R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 513945	NM_005271.5(GLUD1):c.771T>C (p.Gly257=)	GLUD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2575028	NM_005271.5(GLUD1):c.742-2_742-1delinsCC	GLUD1	Indel (splice acceptor variant)	not provided	GUncertain significance
Select item 418235	NM_005271.5(GLUD1):c.646+16_646+17del	GLUD1	Deletion (intron variant)	not specified +1 more	GBenign
Select item 301397	NM_005271.5(GLUD1):c.630A>G (p.Ala210=)	GLUD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1312412	NM_005271.5(GLUD1):c.526G>A (p.Asp176Asn)	GLUD1 (D176N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571862	NM_005271.5(GLUD1):c.497C>T (p.Ser166Phe)	GLUD1 (S166F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 259740	NM_005271.5(GLUD1):c.376G>A (p.Asp126Asn)	LOC130004254, GLUD1 (D126N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 129161	NM_005271.5(GLUD1):c.342T>C (p.His114=)	GLUD1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 2580087	NM_005271.5(GLUD1):c.271A>T (p.Thr91Ser)	GLUD1, SHLD2 (T91S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 301400	NM_005271.5(GLUD1):c.104G>A (p.Gly35Glu)	GLUD1, LOC130004255 +1 more (G35E)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome +2 more	GBenign/Likely benign
Select item 3364120	NM_005271.5(GLUD1):c.2T>C (p.Met1Thr)	GLUD1, SHLD2 (M1T)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 682380	NM_005271.5(GLUD1):c.-24C>G	GLUD1, SHLD2	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 301401	NM_005271.5(GLUD1):c.-44C>T	GLUD1, SHLD2	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3361319	NM_005271.5(GLUD1):c.607A>G (p.Arg203Gly)	GLUD1 (R203G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 29