ClinVar for MedGen (Select 1780208) - ClinVar

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

Links from MedGen

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 990862	NM_003384.3(VRK1):c.1142A>G (p.Glu381Gly)	VRK1 (E381G)	Single nucleotide variant (missense variant)	Congenital pontocerebellar hypoplasia type 1	GUncertain significance
Select item 990861	NM_003384.3(VRK1):c.1064C>G (p.Thr355Arg)	VRK1 (T355R)	Single nucleotide variant (missense variant)	Congenital pontocerebellar hypoplasia type 1	GUncertain significance
Select item 990860	NM_003384.3(VRK1):c.841A>G (p.Asn281Asp)	VRK1 (N281D)	Single nucleotide variant (missense variant)	Congenital pontocerebellar hypoplasia type 1	GUncertain significance
Select item 990859	NM_003384.3(VRK1):c.830+10A>G	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 990858	NM_003384.3(VRK1):c.830G>A (p.Arg277Lys)	VRK1 (R277K)	Single nucleotide variant (missense variant)	Congenital pontocerebellar hypoplasia type 1	GUncertain significance
Select item 990857	NM_003384.3(VRK1):c.29G>A (p.Gly10Glu)	VRK1 (G10E)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1A +1 more	GUncertain significance
Select item 964020	NM_003384.3(VRK1):c.1069-6T>C	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 956220	NM_003384.3(VRK1):c.494T>C (p.Leu165Pro)	VRK1 (L165P)	Single nucleotide variant (missense variant)	Congenital pontocerebellar hypoplasia type 1	GUncertain significance
Select item 842535	NM_003384.3(VRK1):c.402_890-895del	VRK1	Deletion (splice acceptor variant +1 more)	Congenital pontocerebellar hypoplasia type 1	GLikely pathogenic
Select item 779228	NM_003384.3(VRK1):c.690C>T (p.Ile230=)	VRK1	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 764340	NM_003384.3(VRK1):c.135A>G (p.Gln45=)	VRK1	Single nucleotide variant (synonymous variant)	Congenital pontocerebellar hypoplasia type 1	GLikely benign
Select item 702227	NM_003384.3(VRK1):c.576+8T>C	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 664857	NM_003384.3(VRK1):c.308G>A (p.Arg103His)	VRK1 (R103H)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1A	GUncertain significance
Select item 664847	NM_003384.3(VRK1):c.701A>G (p.Asn234Ser)	VRK1 (N234S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 657389	NC_000014.9:g.(?_96810669)_(96860745_?)del	VRK1	Deletion	Congenital pontocerebellar hypoplasia type 1	GPathogenic
Select item 647253	NM_003384.3(VRK1):c.1070A>T (p.Lys357Met)	VRK1 (K357M)	Single nucleotide variant (missense variant)	Congenital pontocerebellar hypoplasia type 1	GUncertain significance
Select item 643149	NC_000014.9:g.(?_96856120)_(96860745_?)del	VRK1	Deletion	Congenital pontocerebellar hypoplasia type 1	GPathogenic
Select item 641662	NM_003384.3(VRK1):c.161-3C>T	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A +1 more	GUncertain significance
Select item 584083	NC_000014.9:g.(?_96846075)_(96847364_?)del	VRK1	Deletion	Congenital pontocerebellar hypoplasia type 1	GPathogenic
Select item 577380	NM_003384.3(VRK1):c.1180G>A (p.Val394Ile)	VRK1 (V394I)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1A	GUncertain significance
Select item 575292	NM_003384.3(VRK1):c.307C>T (p.Arg103Cys)	VRK1 (R103C)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1A +1 more	GUncertain significance
Select item 574450	NM_003384.3(VRK1):c.7_8delinsTT (p.Arg3Phe)	VRK1 (R3F)	Indel (missense variant)	Congenital pontocerebellar hypoplasia type 1 +1 more	GUncertain significance
Select item 567048	NM_003384.2(VRK1):c.318_889+1945del	VRK1	Deletion	Congenital pontocerebellar hypoplasia type 1	GLikely pathogenic
Select item 464941	NM_003384.3(VRK1):c.704G>A (p.Gly235Asp)	VRK1 (G235D)	Single nucleotide variant (missense variant)	Congenital pontocerebellar hypoplasia type 1	GUncertain significance
Select item 451762	NM_003384.3(VRK1):c.1021C>T (p.Leu341Phe)	VRK1 (L341F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 449197	NM_003384.3(VRK1):c.526G>A (p.Gly176Arg)	VRK1 (G176R)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1A +1 more	GUncertain significance
Select item 315124	NM_003384.3(VRK1):c.1069-9A>G	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A +1 more	GConflicting classifications of pathogenicity
Select item 315123	NM_003384.3(VRK1):c.901A>G (p.Lys301Glu)	VRK1 (K301E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 315122	NM_003384.3(VRK1):c.375-8G>C	VRK1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 286548	NM_003384.3(VRK1):c.882C>G (p.Asn294Lys)	VRK1 (N294K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 212586	NM_003384.3(VRK1):c.1150A>G (p.Ile384Val)	VRK1 (I384V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 130732	NM_003384.3(VRK1):c.705C>T (p.Gly235=)	VRK1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 130730	NM_003384.3(VRK1):c.858G>T (p.Met286Ile)	VRK1 (M286I)	Single nucleotide variant (missense variant)	VRK1-related condition +4 more	GConflicting classifications of pathogenicity
Select item 7497	NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter)	VRK1 (R358*)	Single nucleotide variant (nonsense)	Multiple congenital anomalies +4 more	GPathogenic

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: 34