"GeneDx"[submitter] AND "SHLD2"[gene] - ClinVar - NCBI

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Items: 11

	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 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