ClinVar for MedGen (Select 767140) - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068216	NM_025077.4(TOE1):c.974T>C (p.Ile325Thr)	TOE1 (I325T)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 7	GUncertain significance
Select item 2504593	NM_025077.4(TOE1):c.1476C>G (p.Phe492Leu)	TOE1 (F492L)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 7	GUncertain significance
Select item 2437176	NM_025077.4(TOE1):c.20A>G (p.Asp7Gly)	MUTYH, TOE1 (D7G)	Single nucleotide variant (missense variant +2 more)	Pontocerebellar hypoplasia type 7	GUncertain significance
Select item 1687583	NM_025077.4(TOE1):c.1469G>A (p.Ser490Asn)	TOE1 (S490N)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 7	GUncertain significance
Select item 1687385	NM_025077.4(TOE1):c.1062del (p.Thr355fs)	TOE1 (T355fs)	Deletion (frameshift variant)	Pontocerebellar hypoplasia type 7	GLikely pathogenic
Select item 1683722	NM_025077.4(TOE1):c.911C>T (p.Ser304Leu)	TOE1 (S304L)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 7	GUncertain significance
Select item 1676460	NM_025077.4(TOE1):c.544C>T (p.Arg182Ter)	TOE1 (R182*)	Single nucleotide variant (nonsense)	Pontocerebellar hypoplasia type 7	GLikely pathogenic
Select item 1474361	NM_025077.4(TOE1):c.940C>G (p.Gln314Glu)	TOE1 (Q314E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1325214	NM_025077.4(TOE1):c.1018C>T (p.Arg340Ter)	TOE1 (R340*)	Single nucleotide variant (nonsense)	Pontocerebellar hypoplasia type 7	GLikely pathogenic
Select item 1279928	NM_025077.4(TOE1):c.237-2A>G	TOE1	Single nucleotide variant (splice acceptor variant)	Pontocerebellar hypoplasia type 7	GLikely pathogenic
Select item 1275738	NM_025077.4(TOE1):c.551G>T (p.Arg184Leu)	TOE1 (R184L)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 7	GLikely pathogenic
Select item 1028868	NM_025077.4(TOE1):c.1439G>A (p.Gly480Asp)	TOE1 (G480D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1028867	NM_025077.4(TOE1):c.1159G>A (p.Asp387Asn)	TOE1 (D387N)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 7 +1 more	GUncertain significance
Select item 930764	NM_025077.4(TOE1):c.913-2A>G	TOE1	Single nucleotide variant (splice acceptor variant)	Pontocerebellar hypoplasia type 7	GLikely pathogenic
Select item 780001	NM_025077.4(TOE1):c.1176G>A (p.Leu392=)	TOE1, MUTYH	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 7 +2 more	GBenign/Likely benign
Select item 777908	NM_025077.4(TOE1):c.1379C>T (p.Pro460Leu)	MUTYH, TOE1 (P460L)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 690340	NM_025077.4(TOE1):c.1487C>T (p.Ser496Phe)	TOE1 (S496F)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 7	GLikely pathogenic
Select item 690339	NM_025077.4(TOE1):c.693T>A (p.Tyr231Ter)	TOE1 (Y231*)	Single nucleotide variant (nonsense)	Pontocerebellar hypoplasia type 7	GLikely pathogenic
Select item 690338	NM_025077.4(TOE1):c.757C>T (p.Arg253Trp)	TOE1 (R253W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 690337	NM_025077.4(TOE1):c.716T>C (p.Phe239Ser)	TOE1 (F239S)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 7	GLikely pathogenic
Select item 690336	NM_025077.4(TOE1):c.219G>C (p.Arg73Ser)	TOE1 (R73S)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 7	GLikely pathogenic
Select item 690335	NM_025077.4(TOE1):c.955C>T (p.His319Tyr)	TOE1 (H319Y)	Single nucleotide variant (missense variant)	TOE1-related disorder	GLikely pathogenic
Select item 690334	NM_025077.4(TOE1):c.957C>T (p.His319=)	TOE1	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 7	GLikely pathogenic
Select item 690333	NM_025077.4(TOE1):c.937C>G (p.Pro313Ala)	TOE1 (P313A)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 7	GLikely pathogenic
Select item 524117	NM_025077.4(TOE1):c.940_941del (p.Gln314fs)	TOE1 (Q314fs)	Microsatellite (frameshift variant)	not provided	GConflicting classifications of pathogenicity
Select item 417751	NM_025077.4(TOE1):c.957C>A (p.His319Gln)	TOE1 (H319Q)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 7	GPathogenic
Select item 417749	NM_025077.4(TOE1):c.518T>G (p.Val173Gly)	TOE1 (V173G)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 7	GPathogenic/Likely pathogenic
Select item 417748	NM_025077.4(TOE1):c.307G>A (p.Ala103Thr)	TOE1 (A103T)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 7	GPathogenic/Likely pathogenic
Select item 417747	NM_025077.4(TOE1):c.443T>A (p.Phe148Tyr)	TOE1 (F148Y)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 7	GPathogenic/Likely pathogenic
Select item 417746	NM_025077.4(TOE1):c.658G>A (p.Glu220Lys)	TOE1 (E220K)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 7	GPathogenic/Likely pathogenic
Select item 138310	NM_025077.4(TOE1):c.-45G>A	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity

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Links from MedGen

Items: 31