ClinVar for MedGen (Select 410081) - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068352	NM_175875.5(SIX5):c.668A>G (p.Asn223Ser)	DM1-AS, LOC107075317 +1 more (N223S)	Single nucleotide variant (missense variant)	Branchiootorenal syndrome 2	GUncertain significance
Select item 2979694	NM_175875.5(SIX5):c.517G>T (p.Glu173Ter)	DM1-AS, LOC107075317 +1 more (E173*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2435958	NM_175875.5(SIX5):c.503G>A (p.Arg168His)	DM1-AS, LOC107075317 +1 more (R168H)	Single nucleotide variant (missense variant)	Branchiootorenal syndrome 2	GUncertain significance
Select item 2435957	NM_175875.5(SIX5):c.1069G>A (p.Gly357Ser)	LOC107075317, SIX5 (G357S)	Single nucleotide variant (missense variant)	Branchiootorenal syndrome 2	GUncertain significance
Select item 2387564	NM_175875.5(SIX5):c.931C>T (p.Pro311Ser)	LOC107075317, SIX5 (P311S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1809688	NM_175875.5(SIX5):c.1665C>T (p.Ala555=)	SIX5	Single nucleotide variant (synonymous variant)	Branchiootorenal syndrome 2	GLikely benign
Select item 1653359	NM_175875.5(SIX5):c.603C>T (p.Gly201=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1580218	NM_175875.5(SIX5):c.15T>G (p.Pro5=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	Branchiootorenal syndrome 2 +1 more	GLikely benign
Select item 1563415	NM_175875.5(SIX5):c.1609+14C>T	SIX5	Single nucleotide variant (intron variant)	Branchiootorenal syndrome 2 +1 more	GBenign/Likely benign
Select item 1467951	NM_175875.5(SIX5):c.1876G>A (p.Ala626Thr)	SIX5 (A626T)	Single nucleotide variant (missense variant)	Branchiootorenal syndrome 2 +1 more	GUncertain significance
Select item 1432467	NM_175875.5(SIX5):c.1629C>T (p.Asn543=)	SIX5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1367847	NM_175875.5(SIX5):c.258C>G (p.Phe86Leu)	SIX5, DM1-AS +2 more (F86L)	Single nucleotide variant (missense variant)	Branchiootorenal syndrome 2 +2 more	GUncertain significance
Select item 1360087	NM_175875.5(SIX5):c.1390A>T (p.Thr464Ser)	SIX5 (T464S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1332969	NM_175875.5(SIX5):c.1666C>G (p.Leu556Val)	SIX5 (L556V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1318265	NM_175875.5(SIX5):c.108G>A (p.Leu36=)	DM1-AS, LOC107075317 +2 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1318075	NM_175875.5(SIX5):c.492C>T (p.Tyr164=)	DM1-AS, SIX5 +1 more	Single nucleotide variant (synonymous variant)	Branchiootorenal syndrome 2 +1 more	GLikely benign
Select item 1316705	NM_175875.5(SIX5):c.543C>A (p.Gly181=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1285149	NM_175875.5(SIX5):c.1773G>T (p.Thr591=)	SIX5	Single nucleotide variant (synonymous variant)	Branchiootorenal syndrome 2 +1 more	GBenign/Likely benign
Select item 1049684	NM_175875.5(SIX5):c.945C>G (p.Cys315Trp)	LOC107075317, SIX5 (C315W)	Single nucleotide variant (missense variant)	Branchiootorenal syndrome 2	GUncertain significance
Select item 994495	NM_175875.5(SIX5):c.1687C>T (p.Leu563Phe)	SIX5 (L563F)	Single nucleotide variant (missense variant)	Branchiootorenal syndrome 2 +1 more	GUncertain significance
Select item 829852	NM_175875.5(SIX5):c.1802C>T (p.Pro601Leu)	SIX5 (P601L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 805459	NM_175875.5(SIX5):c.1852T>C (p.Ser618Pro)	SIX5 (S618P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 782651	NM_175875.5(SIX5):c.375G>C (p.Pro125=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 748766	NM_175875.5(SIX5):c.936C>T (p.Pro312=)	LOC107075317, SIX5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 740468	NM_175875.5(SIX5):c.1264C>T (p.Leu422=)	SIX5	Single nucleotide variant (synonymous variant)	Branchiootorenal syndrome 2 +1 more	GLikely benign
Select item 732703	NM_175875.5(SIX5):c.1023C>T (p.Gly341=)	LOC107075317, SIX5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 730320	NM_175875.5(SIX5):c.915C>T (p.Phe305=)	LOC107075317, SIX5	Single nucleotide variant (synonymous variant)	Branchiootorenal syndrome 2 +1 more	GLikely benign
Select item 729732	NM_175875.5(SIX5):c.1368C>T (p.Leu456=)	SIX5	Single nucleotide variant (synonymous variant)	Branchiootorenal syndrome 2 +1 more	GLikely benign
Select item 708639	NM_175875.5(SIX5):c.1963C>T (p.Leu655=)	SIX5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 668435	NM_175875.5(SIX5):c.1042C>T (p.Leu348=)	LOC107075317, SIX5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 596384	NM_175875.5(SIX5):c.549G>A (p.Val183=)	SIX5, DM1-AS +1 more	Single nucleotide variant (synonymous variant)	Branchiootorenal syndrome 2 +2 more	GBenign/Likely benign
Select item 515611	NM_175875.5(SIX5):c.1462C>T (p.Pro488Ser)	SIX5 (P488S)	Single nucleotide variant (missense variant)	Branchiootorenal syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 512355	NM_175875.5(SIX5):c.2173C>T (p.Leu725=)	SIX5	Single nucleotide variant (synonymous variant)	Branchiootorenal syndrome 2 +1 more	GBenign/Likely 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 262912	NM_175875.5(SIX5):c.1903C>T (p.Pro635Ser)	SIX5 (P635S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 224344	NM_175875.5(SIX5):c.1261G>A (p.Val421Ile)	SIX5 (V421I)	Single nucleotide variant (missense variant)	Branchiootorenal syndrome 2	GUncertain significance
Select item 8601	NM_175875.5(SIX5):c.1655C>T (p.Thr552Met)	SIX5 (T552M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 8600	NM_175875.5(SIX5):c.1093G>A (p.Gly365Arg)	LOC107075317, SIX5 (G365R)	Single nucleotide variant (missense variant)	Branchiootorenal syndrome 2	GPathogenic
Select item 8599	NM_175875.5(SIX5):c.886G>A (p.Ala296Thr)	LOC107075317, SIX5 (A296T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 8598	NM_175875.5(SIX5):c.472G>A (p.Ala158Thr)	DM1-AS, LOC107075317 +1 more (A158T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar

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Links from MedGen

Items: 40