ClinVar for MedGen (Select 410081) - ClinVar

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

Links from MedGen

Items: 39

	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 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)	Branchiootorenal syndrome 2 +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)	Branchiootorenal syndrome 2 +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)	not provided +1 more	GBenign/Likely benign
Select item 1467951	NM_175875.5(SIX5):c.1876G>A (p.Ala626Thr)	SIX5 (A626T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1432467	NM_175875.5(SIX5):c.1629C>T (p.Asn543=)	SIX5	Single nucleotide variant (synonymous variant)	Branchiootorenal syndrome 2 +1 more	GLikely benign
Select item 1367847	NM_175875.5(SIX5):c.258C>G (p.Phe86Leu)	DM1-AS, LOC107075317 +2 more (F86L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1360087	NM_175875.5(SIX5):c.1390A>T (p.Thr464Ser)	SIX5 (T464S)	Single nucleotide variant (missense variant)	Branchiootorenal syndrome 2 +2 more	GUncertain significance
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, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	not provided +2 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)	not provided +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 +2 more	GLikely benign
Select item 732703	NM_175875.5(SIX5):c.1023C>T (p.Gly341=)	LOC107075317, SIX5	Single nucleotide variant (synonymous variant)	Branchiootorenal syndrome 2 +1 more	GLikely benign
Select item 730320	NM_175875.5(SIX5):c.915C>T (p.Phe305=)	LOC107075317, SIX5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 729732	NM_175875.5(SIX5):c.1368C>T (p.Leu456=)	SIX5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 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 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 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)	Branchiootorenal syndrome 2 +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

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 39