"GeneDx"[submitter] AND "LOC126862720"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1225062	NM_001942.4(DSG1):c.2101-186G>A	DSG1, DSG1-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263710	NM_001942.4(DSG1):c.2101-177C>T	DSG1, DSG1-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229097	NM_001942.4(DSG1):c.2101-173A>G	DSG1, DSG1-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 784749	NM_001942.4(DSG1):c.2121T>A (p.Asp707Glu)	DSG1, DSG1-AS1 +1 more (D707E)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 777287	NM_001942.4(DSG1):c.2139A>G (p.Pro713=)	DSG1, DSG1-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1421289	NM_001942.4(DSG1):c.2410G>A (p.Gly804Ser)	DSG1, DSG1-AS1 +1 more (G804S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1169601	NM_001942.4(DSG1):c.2462T>A (p.Leu821Gln)	DSG1, DSG1-AS1 +1 more (L821Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 402803	NM_001942.4(DSG1):c.2522A>T (p.Tyr841Phe)	DSG1, DSG1-AS1 +1 more (Y841F)	Single nucleotide variant (missense variant)	Severe dermatitis-multiple allergies-metabolic wasting syndrome +3 more	GBenign
Select item 1169602	NM_001942.4(DSG1):c.2556C>T (p.His852=)	DSG1-AS1, LOC126862720 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign