"PreventionGenetics, part of Exact Sciences"[submitter] AND "DSG4"[gen - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 326414	NM_177986.5(DSG4):c.-10A>G	DSG1-AS1, DSG4	Single nucleotide variant (5 prime UTR variant)	DSG4-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 326415	NM_177986.5(DSG4):c.21A>G (p.Arg7=)	DSG1-AS1, DSG4	Single nucleotide variant (synonymous variant)	DSG4-related disorder +2 more	GBenign/Likely benign
Select item 3057986	NM_177986.5(DSG4):c.216+7G>A	DSG1-AS1, DSG4	Single nucleotide variant (intron variant)	DSG4-related disorder	GLikely benign
Select item 779466	NM_177986.5(DSG4):c.236C>T (p.Ser79Leu)	DSG1-AS1, DSG4 (S79L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3036597	NM_177986.5(DSG4):c.517+8G>A	DSG1-AS1, DSG4	Single nucleotide variant (intron variant)	DSG4-related disorder	GLikely benign
Select item 3045681	NM_177986.5(DSG4):c.678C>T (p.Asp226=)	DSG1-AS1, DSG4	Single nucleotide variant (synonymous variant)	DSG4-related disorder	GLikely benign
Select item 326426	NM_177986.5(DSG4):c.855G>A (p.Ser285=)	DSG1-AS1, DSG4	Single nucleotide variant (synonymous variant)	DSG4-related disorder +2 more	GBenign/Likely benign
Select item 585099	NM_177986.5(DSG4):c.1198G>A (p.Gly400Arg)	DSG1-AS1, DSG4 (G400R)	Single nucleotide variant (missense variant)	Hypotrichosis 6 +2 more	GConflicting classifications of pathogenicity
Select item 889975	NM_177986.5(DSG4):c.1210T>C (p.Leu404=)	DSG1-AS1, DSG4	Single nucleotide variant (synonymous variant)	Hypotrichosis 6 +1 more	GConflicting classifications of pathogenicity
Select item 3039571	NM_177986.5(DSG4):c.1224T>A (p.Leu408=)	DSG1-AS1, DSG4	Single nucleotide variant (synonymous variant)	DSG4-related disorder	GLikely benign
Select item 3048956	NM_177986.5(DSG4):c.1246T>C (p.Leu416=)	DSG1-AS1, DSG4	Single nucleotide variant (synonymous variant)	DSG4-related disorder	GLikely benign
Select item 326435	NM_177986.5(DSG4):c.1480T>C (p.Cys494Arg)	DSG1-AS1, DSG4 (C494R)	Single nucleotide variant (missense variant)	DSG4-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 891787	NM_177986.5(DSG4):c.1655C>A (p.Thr552Lys)	DSG1-AS1, DSG4 (T552K)	Single nucleotide variant (missense variant)	Hypotrichosis 6 +2 more	GConflicting classifications of pathogenicity
Select item 326440	NM_177986.5(DSG4):c.1740A>G (p.Gln580=)	DSG1-AS1, DSG4	Single nucleotide variant (synonymous variant)	DSG4-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 326443	NM_177986.5(DSG4):c.2019C>T (p.Gly673=)	DSG1-AS1, DSG4	Single nucleotide variant (synonymous variant)	DSG4-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3044897	NM_177986.5(DSG4):c.2138-48C>T	DSG1-AS1, DSG4 (A716V)	Single nucleotide variant (missense variant +1 more)	DSG4-related disorder	GLikely benign
Select item 712859	NM_177986.5(DSG4):c.2257_2295dup (p.Ser753_Thr765dup)	DSG1-AS1, DSG4	Duplication (inframe_insertion)	DSG4-related disorder +1 more	GBenign
Select item 3036078	NM_177986.5(DSG4):c.2355+8C>T	DSG1-AS1, DSG4	Single nucleotide variant (intron variant)	DSG4-related disorder	GLikely benign
Select item 710123	NM_177986.5(DSG4):c.2366C>T (p.Ala789Val)	DSG1-AS1, DSG4 (A808V +1 more)	Single nucleotide variant (missense variant)	DSG4-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 2889202	NM_177986.5(DSG4):c.2733C>T (p.Tyr911=)	DSG1-AS1, DSG4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 326453	NM_177986.5(DSG4):c.2777A>G (p.Asp926Gly)	DSG1-AS1, DSG4 (D926G +1 more)	Single nucleotide variant (missense variant)	DSG4-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 784547	NM_177986.5(DSG4):c.2901A>G (p.Arg967=)	DSG1-AS1, DSG4	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2906178	NM_177986.5(DSG4):c.2997A>T (p.Pro999=)	DSG1-AS1, DSG4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 326457	NM_177986.5(DSG4):c.3023G>A (p.Ser1008Asn)	DSG1-AS1, DSG4 (S1008N +1 more)	Single nucleotide variant (missense variant)	DSG4-related disorder +3 more	GConflicting classifications of pathogenicity

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Items: 24