ClinVar for MedGen (Select 10590) - ClinVar

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

Links from MedGen

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068560	NM_198578.4(LRRK2):c.1147A>C (p.Ser383Arg)	LRRK2 (S383R)	Single nucleotide variant (missense variant)	Parkinson disease	GUncertain significance
Select item 1809808	NC_000004.11:g.39350045_39350099delinsAAGGG[(141_831)]	RFC1	Indel	Parkinson disease	GPathogenic
Select item 872630	NM_198578.4(LRRK2):c.4310A>G (p.Asn1437Ser)	LRRK2 (N1437S)	Single nucleotide variant (missense variant)	Parkinson disease +1 more	GConflicting classifications of pathogenicity
Select item 703789	NM_018206.6(VPS35):c.915-3del	VPS35	Deletion (intron variant)	Parkinson disease +1 more	GBenign
Select item 224865	NM_003285.3(TNR):c.463T>A (p.Cys155Ser)	TNR (C155S)	Single nucleotide variant (5 prime UTR variant +1 more)	Parkinson disease	GUncertain significance
Select item 224864	NM_003285.3(TNR):c.496A>G (p.Thr166Ala)	TNR (T166A)	Single nucleotide variant (5 prime UTR variant +1 more)	Parkinson disease +2 more	GConflicting classifications of pathogenicity
Select item 224863	NM_003285.3(TNR):c.538A>C (p.Asn180His)	TNR (N180H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 224862	NM_003285.3(TNR):c.1732C>T (p.Arg578Ter)	TNR (R578* +1 more)	Single nucleotide variant (nonsense)	Parkinson disease	GUncertain significance
Select item 224861	NM_003285.3(TNR):c.1774A>G (p.Thr592Ala)	TNR (T592A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 224860	NM_001382273.1(TNK2):c.1088T>C (p.Val363Ala)	TNK2 (V363A +2 more)	Single nucleotide variant (missense variant +1 more)	Parkinson disease	GUncertain significance
Select item 224859	NM_001382273.1(TNK2):c.2675G>A (p.Arg892His)	TNK2 (R877H +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 224858	NM_001382273.1(TNK2):c.2981C>T (p.Ala994Val)	TNK2 (A977V +6 more)	Single nucleotide variant (missense variant +2 more)	Parkinson disease	GUncertain significance
Select item 222071	NM_020821.3(VPS13C):c.4777del (p.Gln1593fs)	VPS13C (Q1550fs +1 more)	Deletion (frameshift variant)	Parkinson disease	GPathogenic
Select item 222070	NM_020821.3(VPS13C):c.4165G>C (p.Gly1389Arg)	VPS13C (G1389R +1 more)	Single nucleotide variant (missense variant)	Parkinson disease +1 more	GPathogenic/Likely pathogenic
Select item 222069	NM_020821.3(VPS13C):c.9568G>T (p.Glu3190Ter)	VPS13C (E3190* +1 more)	Single nucleotide variant (nonsense)	Parkinson disease	GPathogenic
Select item 222068	NM_020821.3(VPS13C):c.806_807insCAGA (p.Arg269fs)	VPS13C (R226fs +1 more)	Insertion (frameshift variant)	Parkinson disease	GPathogenic
Select item 222067	NM_020821.3(VPS13C):c.8445+2T>G	VPS13C	Single nucleotide variant (splice donor variant)	Parkinson disease	GPathogenic
Select item 88849	NM_001382273.1(TNK2):c.1957G>A (p.Val653Met)	TNK2 (V638M +5 more)	Single nucleotide variant (missense variant +1 more)	TNK2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 39198	NM_198578.4(LRRK2):c.4883G>C (p.Arg1628Pro)	LRRK2 (R1628P)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 4290	NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)	GBA1, LOC106627981 (N409S +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I +13 more	GPathogenic/Likely pathogenic; risk factor
Select item 1943	NM_198578.4(LRRK2):c.7153G>A (p.Gly2385Arg)	LRRK2 (G2385R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity; risk factor
Select item 1940	NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser)	LRRK2 (G2019S)	Single nucleotide variant (missense variant)	Young-onset Parkinson disease +6 more	GPathogenic/Likely pathogenic; risk factor

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: 22