"DSG1-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3049198	NM_001942.4(DSG1):c.-8C>A	DSG1	Single nucleotide variant (5 prime UTR variant)	DSG1-related disorder	GLikely benign
Select item 2631524	NM_001942.4(DSG1):c.280C>T (p.Gln94Ter)	DSG1 (Q94*)	Single nucleotide variant (nonsense)	DSG1-related disorder	GPathogenic
Select item 1089396	NM_001942.4(DSG1):c.820-3C>T	DSG1	Single nucleotide variant (intron variant)	DSG1-related disorder +1 more	GLikely benign
Select item 717396	NM_001942.4(DSG1):c.861G>T (p.Leu287Phe)	DSG1 (L287F)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2175549	NM_001942.4(DSG1):c.1046T>C (p.Ile349Thr)	DSG1 (I349T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 788913	NM_001942.4(DSG1):c.1184C>G (p.Thr395Ser)	DSG1 (T395S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1556072	NM_001942.4(DSG1):c.1406-4A>G	DSG1	Single nucleotide variant (intron variant)	DSG1-related disorder +1 more	GBenign/Likely benign
Select item 1592420	NM_001942.4(DSG1):c.1467C>T (p.Asp489=)	DSG1	Single nucleotide variant (synonymous variant)	DSG1-related disorder +1 more	GLikely benign
Select item 735546	NM_001942.4(DSG1):c.1563T>C (p.Ser521=)	DSG1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1586786	NM_001942.4(DSG1):c.1741G>A (p.Ala581Thr)	DSG1, DSG1-AS1 (A581T)	Single nucleotide variant (non-coding transcript variant +1 more)	DSG1-related disorder +1 more	GLikely benign
Select item 732023	NM_001942.4(DSG1):c.1803A>G (p.Gly601=)	DSG1, DSG1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	DSG1-related disorder +1 more	GLikely benign
Select item 1532465	NM_001942.4(DSG1):c.1830C>G (p.Thr610=)	DSG1, DSG1-AS1	Single nucleotide variant (synonymous variant)	DSG1-related disorder +1 more	GLikely benign
Select item 778771	NM_001942.4(DSG1):c.1995G>T (p.Met665Ile)	DSG1, DSG1-AS1 (M665I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2628438	NM_001942.4(DSG1):c.2041del (p.Ser680_Met681insTer)	DSG1, DSG1-AS1	Deletion (nonsense)	DSG1-related disorder	GLikely pathogenic
Select item 1164178	NM_001942.4(DSG1):c.2059G>A (p.Gly687Arg)	DSG1, DSG1-AS1 (G687R)	Single nucleotide variant (missense variant)	DSG1-related disorder +1 more	GBenign/Likely benign
Select item 777286	NM_001942.4(DSG1):c.2116G>A (p.Ala706Thr)	DSG1, DSG1-AS1 +1 more (A706T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely 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 disorder +1 more	GBenign/Likely benign
Select item 777287	NM_001942.4(DSG1):c.2139A>G (p.Pro713=)	DSG1-AS1, LOC126862720 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 1614814	NM_001942.4(DSG1):c.2181T>C (p.Gly727=)	DSG1, DSG1-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	DSG1-related disorder +1 more	GLikely benign
Select item 787462	NM_001942.4(DSG1):c.2314G>A (p.Asp772Asn)	LOC126862720, DSG1 +1 more (D772N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2903262	NM_001942.4(DSG1):c.2373C>T (p.Pro791=)	DSG1-AS1, LOC126862720 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1155758	NM_001942.4(DSG1):c.2421A>C (p.Thr807=)	DSG1, DSG1-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1169601	NM_001942.4(DSG1):c.2462T>A (p.Leu821Gln)	DSG1, DSG1-AS1 +1 more (L821Q)	Single nucleotide variant (missense variant)	DSG1-related disorder +1 more	GBenign
Select item 1555348	NM_001942.4(DSG1):c.2463G>A (p.Leu821=)	DSG1, DSG1-AS1 +1 more	Single nucleotide variant (synonymous variant)	DSG1-related disorder +1 more	GLikely benign
Select item 788333	NM_001942.4(DSG1):c.2472G>A (p.Lys824=)	DSG1, DSG1-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1551383	NM_001942.4(DSG1):c.2481C>T (p.Leu827=)	DSG1, DSG1-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1146734	NM_001942.4(DSG1):c.2514C>T (p.Thr838=)	LOC126862720, DSG1 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1169602	NM_001942.4(DSG1):c.2556C>T (p.His852=)	DSG1, DSG1-AS1 +1 more	Single nucleotide variant (synonymous variant)	DSG1-related disorder +1 more	GBenign
Select item 1169603	NM_001942.4(DSG1):c.2814T>C (p.Ser938=)	DSG1, DSG1-AS1	Single nucleotide variant (synonymous variant)	DSG1-related disorder +1 more	GBenign
Select item 1133444	NM_001942.4(DSG1):c.2823C>T (p.Pro941=)	DSG1, DSG1-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1597525	NM_001942.4(DSG1):c.2913C>T (p.Ser971=)	DSG1, DSG1-AS1	Single nucleotide variant (synonymous variant)	DSG1-related disorder +1 more	GLikely benign
Select item 777288	NM_001942.4(DSG1):c.2914G>A (p.Gly972Ser)	DSG1, DSG1-AS1 (G972S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 710121	NM_001942.4(DSG1):c.3023G>A (p.Gly1008Glu)	DSG1, DSG1-AS1 (G1008E)	Single nucleotide variant (missense variant)	DSG1-related disorder +1 more	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 33