"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "LOC1268627 - ClinVar - NCBI

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Search results

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 773598	NM_001942.4(DSG1):c.2115C>T (p.Tyr705=)	DSG1, DSG1-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 785908	NM_001942.4(DSG1):c.2134C>T (p.Arg712Cys)	DSG1, DSG1-AS1 +1 more (R712C)	Single nucleotide variant (non-coding transcript variant +1 more)	DSG1-related condition +1 more	GBenign/Likely benign
Select item 1012910	NM_001942.4(DSG1):c.2182T>G (p.Ser728Ala)	LOC126862720, DSG1 +1 more (S728A)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 775466	NM_001942.4(DSG1):c.2215A>G (p.Ile739Val)	DSG1, DSG1-AS1 +1 more (I739V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign/Likely benign
Select item 789236	NM_001942.4(DSG1):c.2216T>C (p.Ile739Thr)	DSG1, DSG1-AS1 +1 more (I739T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 2648629	NM_001942.4(DSG1):c.2435G>A (p.Ser812Asn)	DSG1, DSG1-AS1 +1 more (S812N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648630	NM_001942.4(DSG1):c.2469T>C (p.Pro823=)	DSG1, DSG1-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 788333	NM_001942.4(DSG1):c.2472G>A (p.Lys824=)	DSG1, DSG1-AS1 +1 more	Single nucleotide variant (synonymous variant)	DSG1-related condition +1 more	GBenign/Likely benign
Select item 2648631	NM_001942.4(DSG1):c.2514C>A (p.Thr838=)	DSG1, DSG1-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1665623	NM_001942.4(DSG1):c.2523C>T (p.Tyr841=)	DSG1, DSG1-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 781729	NM_001942.4(DSG1):c.2622C>T (p.Gly874=)	DSG1, DSG1-AS1 +1 more	Single nucleotide variant (synonymous variant)	Palmoplantar keratoderma i, striate, focal, or diffuse +2 more	GBenign/Likely benign