"PreventionGenetics, part of Exact Sciences"[submitter] AND "SIX5"[gen - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2150445	NM_175875.5(SIX5):c.2145C>T (p.Asp715=)	SIX5	Single nucleotide variant (synonymous variant)	SIX5-related condition +1 more	GLikely benign
Select item 262913	NM_175875.5(SIX5):c.2077G>A (p.Val693Met)	SIX5 (V693M)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 2635225	NM_175875.5(SIX5):c.1987C>T (p.Pro663Ser)	SIX5 (P663S)	Single nucleotide variant (missense variant)	SIX5-related condition	GUncertain significance
Select item 708639	NM_175875.5(SIX5):c.1963C>T (p.Leu655=)	SIX5	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1911091	NM_175875.5(SIX5):c.1959G>A (p.Glu653=)	SIX5	Single nucleotide variant (synonymous variant)	SIX5-related condition +1 more	GLikely benign
Select item 2630886	NM_175875.5(SIX5):c.1940T>G (p.Phe647Cys)	SIX5 (F647C)	Single nucleotide variant (missense variant)	SIX5-related condition	GUncertain significance
Select item 262912	NM_175875.5(SIX5):c.1903C>T (p.Pro635Ser)	SIX5 (P635S)	Single nucleotide variant (missense variant)	Branchiootorenal syndrome 2 +2 more	GBenign
Select item 732479	NM_175875.5(SIX5):c.1873G>A (p.Ala625Thr)	SIX5 (A625T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 708831	NM_175875.5(SIX5):c.1656G>A (p.Thr552=)	SIX5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3031838	NM_175875.5(SIX5):c.1564G>T (p.Gly522Trp)	SIX5 (G522W)	Single nucleotide variant (missense variant)	SIX5-related condition	GUncertain significance
Select item 3044173	NM_175875.5(SIX5):c.1563C>T (p.Ser521=)	SIX5	Single nucleotide variant (synonymous variant)	SIX5-related condition	GLikely benign
Select item 1316342	NM_175875.5(SIX5):c.1497C>T (p.Ala499=)	SIX5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2632316	NM_175875.5(SIX5):c.1431G>C (p.Gln477His)	SIX5 (Q477H)	Single nucleotide variant (missense variant)	SIX5-related condition	GUncertain significance
Select item 2634151	NM_175875.5(SIX5):c.1400G>A (p.Ser467Asn)	SIX5 (S467N)	Single nucleotide variant (missense variant)	SIX5-related condition +1 more	GUncertain significance
Select item 444476	NM_175875.5(SIX5):c.1366C>T (p.Leu456Phe)	SIX5 (L456F)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3029619	NM_175875.5(SIX5):c.1272C>T (p.Pro424=)	SIX5	Single nucleotide variant (synonymous variant)	SIX5-related condition	GLikely benign
Select item 740468	NM_175875.5(SIX5):c.1264C>T (p.Leu422=)	SIX5	Single nucleotide variant (synonymous variant)	Branchiootorenal syndrome 2 +2 more	GLikely benign
Select item 1315682	NM_175875.5(SIX5):c.1091G>T (p.Gly364Val)	LOC107075317, SIX5 (G364V)	Single nucleotide variant (missense variant)	SIX5-related condition +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)	not provided +1 more	GLikely benign
Select item 2899916	NM_175875.5(SIX5):c.900C>G (p.Ala300=)	SIX5, LOC107075317	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 507629	NM_175875.5(SIX5):c.811G>A (p.Asp271Asn)	LOC107075317, SIX5 (D271N)	Single nucleotide variant (missense variant)	SIX5-related condition +1 more	GLikely benign
Select item 2997271	NM_175875.5(SIX5):c.804-7C>T	LOC107075317, SIX5	Single nucleotide variant (intron variant)	SIX5-related condition +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 condition	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 condition +1 more	GLikely benign
Select item 596384	NM_175875.5(SIX5):c.549G>A (p.Val183=)	LOC107075317, SIX5 +1 more	Single nucleotide variant (synonymous variant)	not specified +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 condition	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 condition	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 condition	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 condition	GUncertain significance
Select item 2890787	NM_175875.5(SIX5):c.246G>A (p.Thr82=)	DM1-AS, LOC107075317 +2 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2630538	NM_175875.5(SIX5):c.237A>T (p.Glu79Asp)	DM1-AS, LOC107075317 +2 more (E79D)	Single nucleotide variant (missense variant)	SIX5-related condition	GUncertain significance
Select item 2083786	NM_175875.5(SIX5):c.224A>T (p.Glu75Val)	DM1-AS, LOC107075317 +2 more (E75V)	Single nucleotide variant (missense variant)	not specified +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)	not provided +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 condition	GLikely benign
Select item 2918662	NM_175875.5(SIX5):c.45G>C (p.Gly15=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign

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Items: 37