ClinVar for MedGen (Select 344049) - ClinVar

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Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2919644	NM_007262.5(PARK7):c.273A>C (p.Ile91=)	PARK7	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 7	GLikely benign
Select item 2894413	NM_007262.5(PARK7):c.323-16T>C	PARK7	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 7	GLikely benign
Select item 2742576	NM_007262.5(PARK7):c.96G>A (p.Lys32=)	PARK7	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 7	GLikely benign
Select item 2425707	NC_000001.10:g.(?_8022846)_(8037818_?)del	PARK7	Deletion	Autosomal recessive early-onset Parkinson disease 7	GPathogenic
Select item 2413710	NM_007262.5(PARK7):c.322+6G>A	PARK7	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 2202695	NM_007262.5(PARK7):c.515T>A (p.Leu172Gln)	PARK7 (L172Q)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 2202253	NM_007262.5(PARK7):c.142C>T (p.Arg48Cys)	PARK7 (R48C)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 2159561	NM_007262.5(PARK7):c.300C>T (p.Gly100=)	PARK7	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 7	GLikely benign
Select item 2055014	NM_007262.5(PARK7):c.494C>T (p.Ala165Val)	PARK7 (A165V)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 2052449	NM_007262.5(PARK7):c.534G>A (p.Ala178=)	PARK7	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 7	GLikely benign
Select item 2049252	NM_007262.5(PARK7):c.103G>A (p.Val35Ile)	PARK7 (V35I)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 2048361	NM_007262.5(PARK7):c.309C>T (p.Ala103=)	PARK7	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 7	GLikely benign
Select item 2038134	NM_007262.5(PARK7):c.54G>A (p.Glu18=)	PARK7	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 7	GLikely benign
Select item 2035342	NM_007262.5(PARK7):c.252+8A>G	PARK7	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 7	GLikely benign
Select item 1988053	NM_007262.5(PARK7):c.91-4G>C	PARK7	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 7	GLikely benign
Select item 1984032	NM_007262.5(PARK7):c.323-20C>A	PARK7	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 7	GLikely benign
Select item 1943858	NM_007262.5(PARK7):c.482G>C (p.Ser161Thr)	PARK7 (S161T)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 1931055	NM_007262.5(PARK7):c.444dup (p.Asp149fs)	PARK7 (D149fs)	Duplication (frameshift variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 1916158	NM_007262.5(PARK7):c.323-10T>A	PARK7	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 7	GLikely benign
Select item 1667228	NM_007262.5(PARK7):c.322+12G>A	PARK7	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 7	GLikely benign
Select item 1649974	NM_007262.5(PARK7):c.409+18TTTG[5]	PARK7	Microsatellite (intron variant)	Autosomal recessive early-onset Parkinson disease 7	GLikely benign
Select item 1581945	NM_007262.5(PARK7):c.193-13dup	PARK7	Duplication (intron variant)	Autosomal recessive early-onset Parkinson disease 7	GBenign
Select item 1551370	NM_007262.5(PARK7):c.409+18TTTG[3]	PARK7	Microsatellite (intron variant)	Autosomal recessive early-onset Parkinson disease 7	GLikely benign
Select item 1547969	NM_007262.5(PARK7):c.193-17G>A	PARK7	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 7	GLikely benign
Select item 1535683	NM_007262.5(PARK7):c.252+18A>G	PARK7	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 7	GBenign
Select item 1519810	NM_007262.5(PARK7):c.328A>G (p.Thr110Ala)	PARK7 (T110A)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 1510243	NM_007262.5(PARK7):c.198A>G (p.Pro66=)	PARK7	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 1468432	NM_007262.5(PARK7):c.271A>G (p.Ile91Val)	PARK7 (I91V)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 1425067	NM_007262.5(PARK7):c.437T>G (p.Val146Gly)	PARK7 (V146G)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 1419175	NM_007262.5(PARK7):c.395A>G (p.Lys132Arg)	PARK7 (K132R)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 1399835	NM_007262.5(PARK7):c.82C>T (p.Arg28Ter)	PARK7 (R28*)	Single nucleotide variant (nonsense)	Autosomal recessive early-onset Parkinson disease 7	GPathogenic
Select item 1365948	NM_007262.5(PARK7):c.233G>A (p.Gly78Asp)	PARK7 (G78D)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 1338986	NM_007262.5(PARK7):c.253T>C (p.Ser85Pro)	PARK7 (S85P)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 1334459	NM_007262.5(PARK7):c.322G>A (p.Gly108Ser)	PARK7 (G108S)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GPathogenic
Select item 1331350	NM_007262.5(PARK7):c.302T>C (p.Leu101Pro)	PARK7 (L101P)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GLikely pathogenic
Select item 1319906	NM_007262.5(PARK7):c.83G>A (p.Arg28Gln)	PARK7 (R28Q)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GLikely pathogenic
Select item 1144766	NM_007262.5(PARK7):c.429G>A (p.Glu143=)	PARK7	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 7	GLikely benign
Select item 1078275	NM_007262.5(PARK7):c.91-5C>T	PARK7	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 7	GLikely benign
Select item 1015099	NM_007262.5(PARK7):c.16G>T (p.Ala6Ser)	PARK7 (A6S)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 987356	NM_007262.5(PARK7):c.471_473del (p.Pro158del)	PARK7 (P158del)	Deletion (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 963192	NM_007262.5(PARK7):c.56C>T (p.Thr19Met)	PARK7 (T19M)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 875477	NM_007262.5(PARK7):c.*185T>A	PARK7	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 875476	NM_007262.5(PARK7):c.*124C>T	PARK7	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive early-onset Parkinson disease 7 +1 more	GLikely benign
Select item 875475	NM_007262.5(PARK7):c.*49A>G	PARK7	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 875474	NM_007262.5(PARK7):c.502A>G (p.Ile168Val)	PARK7 (I168V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 874552	NM_007262.5(PARK7):c.425C>T (p.Ser142Phe)	PARK7 (S142F)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 874551	NM_007262.5(PARK7):c.91A>G (p.Ile31Val)	PARK7 (I31V)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 874550	NM_007262.5(PARK7):c.91-11C>T	PARK7	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 854701	NM_007262.5(PARK7):c.535G>A (p.Ala179Thr)	PARK7 (A179T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 806045	NM_007262.5(PARK7):c.101C>T (p.Thr34Ile)	PARK7 (T34I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 804432	NM_007262.5(PARK7):c.90+1dup	PARK7	Duplication (splice donor variant)	Autosomal recessive early-onset Parkinson disease 7	GLikely pathogenic
Select item 779071	NM_007262.5(PARK7):c.410-9A>G	PARK7	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 707607	NM_007262.5(PARK7):c.501A>G (p.Ala167=)	PARK7	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 7 +1 more	GConflicting classifications of pathogenicity
Select item 703804	NM_007262.5(PARK7):c.166G>A (p.Ala56Thr)	PARK7 (A56T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 675657	NM_007262.5(PARK7):c.252+8dup	PARK7	Duplication (intron variant)	Autosomal recessive early-onset Parkinson disease 7 +1 more	GLikely benign
Select item 650723	NC_000001.10:g.(?_8022836)_(8031035_?)dup	PARK7	Duplication	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 643343	NM_007262.5(PARK7):c.28C>G (p.Leu10Val)	PARK7 (L10V)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 642328	NM_007262.5(PARK7):c.310G>A (p.Ala104Thr)	PARK7 (A104T)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 584372	NC_000001.11:g.(?_7969325)_(7969424_?)del	PARK7	Deletion	Autosomal recessive early-onset Parkinson disease 7	GLikely pathogenic
Select item 582678	NM_007262.5(PARK7):c.511G>T (p.Ala171Ser)	PARK7 (A171S)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 577231	NM_007262.5(PARK7):c.448G>A (p.Gly150Ser)	PARK7 (G150S)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 573287	NM_007262.5(PARK7):c.105dup (p.Ala36fs)	PARK7 (A36fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 534230	NM_007262.5(PARK7):c.91-4G>A	PARK7	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 7	GLikely benign
Select item 465831	NM_007262.5(PARK7):c.293G>A (p.Arg98Gln)	PARK7 (R98Q)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 447914	NM_007262.5(PARK7):c.191_192del (p.Glu64fs)	PARK7 (E64fs)	Microsatellite (frameshift variant)	Autosomal recessive early-onset Parkinson disease 7 +1 more	GPathogenic
Select item 446717	NM_007262.4(PARK7):c.[-24+75_-24+92dup;487G>A]	PARK7 (E163K)	Duplication (intron variant +1 more)	Autosomal recessive early-onset Parkinson disease 7	GPathogenic
Select item 298124	NM_007262.5(PARK7):c.*125G>A	PARK7	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 298123	NM_007262.5(PARK7):c.500C>G (p.Ala167Gly)	PARK7 (A167G)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 298122	NM_007262.5(PARK7):c.323-14A>G	PARK7	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 298121	NM_007262.5(PARK7):c.234C>T (p.Gly78=)	PARK7	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 7 +2 more	GBenign/Likely benign
Select item 298120	NM_007262.5(PARK7):c.223G>A (p.Gly75Ser)	PARK7 (G75S)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 298119	NM_007262.5(PARK7):c.73G>A (p.Val25Ile)	PARK7 (V25I)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 298118	NM_007262.5(PARK7):c.59T>C (p.Val20Ala)	PARK7 (V20A)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 298117	NM_007262.5(PARK7):c.-22C>T	PARK7	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 298116	NM_007262.5(PARK7):c.-30G>C	PARK7	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 298115	NM_007262.5(PARK7):c.-70C>T	PARK7	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 298114	NM_007262.5(PARK7):c.-80T>A	PARK7	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 298113	NM_007262.5(PARK7):c.-99T>C	PARK7	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive early-onset Parkinson disease 7	GBenign
Select item 7067	NM_007262.5(PARK7):c.192G>C (p.Glu64Asp)	PARK7 (E64D)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GPathogenic
Select item 7066	NM_007262.5(PARK7):c.446A>C (p.Asp149Ala)	PARK7 (D149A)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GLikely benign
Select item 7065	NM_007262.5(PARK7):c.78G>A (p.Met26Ile)	PARK7 (M26I)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GPathogenic
Select item 7064	NM_007262.5(PARK7):c.497T>C (p.Leu166Pro)	PARK7 (L166P)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GPathogenic
Select item 7063	nsv513788	PARK7	Deletion	Autosomal recessive early-onset Parkinson disease 7	GPathogenic

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Items: 83