"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOC107075 - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1315682	NM_175875.5(SIX5):c.1091G>T (p.Gly364Val)	LOC107075317, SIX5 (G364V)	Single nucleotide variant (missense variant)	SIX5-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 668435	NM_175875.5(SIX5):c.1042C>T (p.Leu348=)	SIX5, LOC107075317	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1628024	NM_175875.5(SIX5):c.993C>T (p.Ser331=)	LOC107075317, SIX5	Single nucleotide variant (synonymous variant)	SIX5-related disorder +1 more	GLikely benign
Select item 2899916	NM_175875.5(SIX5):c.900C>G (p.Ala300=)	LOC107075317, SIX5	Single nucleotide variant (synonymous variant)	SIX5-related disorder +1 more	GLikely benign
Select item 507629	NM_175875.5(SIX5):c.811G>A (p.Asp271Asn)	LOC107075317, SIX5 (D271N)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2997271	NM_175875.5(SIX5):c.804-7C>T	LOC107075317, SIX5	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 3050491	NM_175875.5(SIX5):c.774C>G (p.Thr258=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	SIX5-related disorder	GLikely benign
Select item 744309	NM_175875.5(SIX5):c.576C>T (p.Phe192=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	SIX5-related disorder +1 more	GLikely benign
Select item 596384	NM_175875.5(SIX5):c.549G>A (p.Val183=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	Branchiootorenal syndrome 2 +3 more	GBenign/Likely benign
Select item 1318075	NM_175875.5(SIX5):c.492C>T (p.Tyr164=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2631036	NM_175875.5(SIX5):c.470A>G (p.His157Arg)	DM1-AS, LOC107075317 +1 more (H157R)	Single nucleotide variant (missense variant)	SIX5-related disorder	GUncertain significance
Select item 2629677	NM_175875.5(SIX5):c.434G>A (p.Arg145Gln)	DM1-AS, LOC107075317 +1 more (R145Q)	Single nucleotide variant (missense variant)	SIX5-related disorder	GUncertain significance
Select item 3057378	NM_175875.5(SIX5):c.297C>A (p.Leu99=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	SIX5-related disorder	GLikely benign
Select item 2631829	NM_175875.5(SIX5):c.251T>A (p.Leu84His)	DM1-AS, LOC107075317 +2 more (L84H)	Single nucleotide variant (missense variant)	SIX5-related disorder	GUncertain significance
Select item 2890787	NM_175875.5(SIX5):c.246G>A (p.Thr82=)	DM1-AS, LOC107075317 +2 more	Single nucleotide variant (synonymous variant)	SIX5-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2630538	NM_175875.5(SIX5):c.237A>T (p.Glu79Asp)	LOC107075317, DM1-AS +2 more (E79D)	Single nucleotide variant (missense variant)	SIX5-related disorder	GUncertain significance
Select item 2083786	NM_175875.5(SIX5):c.224A>T (p.Glu75Val)	SIX5, DM1-AS +2 more (E75V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 708640	NM_175875.5(SIX5):c.150CGGGGC[3] (p.51GA[4])	DM1-AS, LOC107075317 +2 more	Microsatellite (inframe_insertion)	SIX5-related disorder +1 more	GBenign/Likely benign
Select item 3060057	NM_175875.5(SIX5):c.135GGC[4] (p.Ala50del)	DM1-AS, LOC107075317 +2 more (A50del)	Microsatellite (inframe deletion)	SIX5-related disorder	GLikely benign
Select item 2918662	NM_175875.5(SIX5):c.45G>C (p.Gly15=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	SIX5-related disorder +1 more	GLikely benign
Select item 3034109	NM_004409.5(DMPK):c.1848C>T (p.Leu616=)	DM1-AS, DMPK +2 more (S468L +4 more)	Single nucleotide variant (synonymous variant +2 more)	DMPK-related disorder	GBenign
Select item 3047105	NM_004409.5(DMPK):c.1790T>A (p.Val597Asp)	DM1-AS, DMPK +2 more (F449I +10 more)	Single nucleotide variant (missense variant +1 more)	DMPK-related disorder	GBenign
Select item 3047767	NM_004409.5(DMPK):c.1587A>G (p.Ala529=)	DM1-AS, DMPK +1 more	Single nucleotide variant (synonymous variant +1 more)	DMPK-related disorder	GLikely benign
Select item 496650	NM_004409.5(DMPK):c.1477C>T (p.Arg493Cys)	DMPK, DM1-AS +1 more (R488C +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	DMPK-related disorder +1 more	GLikely benign
Select item 3041374	NM_004409.5(DMPK):c.1392C>A (p.Ala464=)	DM1-AS, DMPK +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	DMPK-related disorder	GLikely benign
Select item 3046615	NM_004409.5(DMPK):c.1305G>A (p.Ala435=)	DMPK, LOC107075317	Single nucleotide variant (synonymous variant)	DMPK-related disorder	GLikely benign
Select item 3047460	NM_004409.5(DMPK):c.1275C>T (p.Ala425=)	DMPK, LOC107075317	Single nucleotide variant (synonymous variant)	DMPK-related disorder	GLikely benign
Select item 128903	NM_004409.5(DMPK):c.1267C>G (p.Leu423Val)	DMPK, LOC107075317 (L423V +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign

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Items: 28