ClinVar for MedGen (Select 335969) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3576916	NM_003384.3(VRK1):c.882del (p.Asn294fs)	VRK1 (N294fs)	Deletion (frameshift variant)	Pontocerebellar hypoplasia type 1A +1 more	GLikely pathogenic
Select item 3576915	NM_003384.3(VRK1):c.287-2A>G	VRK1	Single nucleotide variant (splice acceptor variant)	Pontocerebellar hypoplasia type 1A +1 more	GLikely pathogenic
Select item 3576914	NM_003384.3(VRK1):c.3dup (p.Pro2fs)	VRK1 (P2fs)	Duplication (frameshift variant +1 more)	Pontocerebellar hypoplasia type 1A +1 more	GLikely pathogenic
Select item 3243977	NC_000014.8:g.(?_97319190)_(97325994_?)del	VRK1	Deletion	Pontocerebellar hypoplasia type 1A	GLikely pathogenic
Select item 3243975	NC_000014.8:g.(?_97313625)_(97324868_?)del	VRK1	Deletion	Pontocerebellar hypoplasia type 1A	GPathogenic
Select item 3243974	NC_000014.8:g.(?_97342347)_(97347545_?)del	VRK1	Deletion	Pontocerebellar hypoplasia type 1A	GPathogenic
Select item 3243973	NC_000014.8:g.(?_97277006)_(97347545_?)del	VRK1	Deletion	Pontocerebellar hypoplasia type 1A	GPathogenic
Select item 3019328	NM_003384.3(VRK1):c.330T>C (p.Val110=)	VRK1	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 3018692	NM_003384.3(VRK1):c.577-11del	VRK1	Deletion (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 3018346	NM_003384.3(VRK1):c.1068+20T>C	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 3016328	NM_003384.3(VRK1):c.217-14T>C	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 3012432	NM_003384.3(VRK1):c.375-12A>G	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 3005738	NM_003384.3(VRK1):c.889+11A>G	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 3003169	NM_003384.3(VRK1):c.830+1G>C	VRK1	Single nucleotide variant (splice donor variant)	Pontocerebellar hypoplasia type 1A	GLikely pathogenic
Select item 3001836	NM_003384.3(VRK1):c.889+19A>C	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2998196	NM_003384.3(VRK1):c.709+8A>G	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2993620	NM_003384.3(VRK1):c.890-15G>A	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2986988	NM_003384.3(VRK1):c.484-18T>C	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2985742	NM_003384.3(VRK1):c.830+12C>T	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2984157	NM_003384.3(VRK1):c.710-13C>G	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2977153	NM_003384.3(VRK1):c.810T>G (p.Tyr270Ter)	VRK1 (Y270*)	Single nucleotide variant (nonsense)	Pontocerebellar hypoplasia type 1A	GPathogenic
Select item 2976503	NM_003384.3(VRK1):c.576+1G>A	VRK1	Single nucleotide variant (splice donor variant)	Pontocerebellar hypoplasia type 1A	GLikely pathogenic
Select item 2959865	NM_003384.3(VRK1):c.933C>T (p.Tyr311=)	VRK1	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2910088	NM_003384.3(VRK1):c.577-16G>C	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2900342	NM_003384.3(VRK1):c.484-5C>T	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2898971	NM_003384.3(VRK1):c.217-10dup	VRK1	Duplication (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2893045	NM_003384.3(VRK1):c.709+13T>A	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2892187	NM_003384.3(VRK1):c.375-19T>C	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2891995	NM_003384.3(VRK1):c.484-16T>C	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2891385	NM_003384.3(VRK1):c.1134A>G (p.Thr378=)	VRK1	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2887503	NM_003384.3(VRK1):c.591T>C (p.Asp197=)	VRK1	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2886646	NM_003384.3(VRK1):c.444G>A (p.Arg148=)	VRK1	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2878845	NM_003384.3(VRK1):c.252A>G (p.Leu84=)	VRK1	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2878713	NM_003384.3(VRK1):c.577-18G>A	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2875175	NM_003384.3(VRK1):c.576+11A>G	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2865664	NM_003384.3(VRK1):c.890-22_890-15del	VRK1	Deletion (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2862923	NM_003384.3(VRK1):c.286+11C>T	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2861479	NM_003384.3(VRK1):c.709+18G>T	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2858473	NM_003384.3(VRK1):c.483+1G>A	VRK1	Single nucleotide variant (splice donor variant)	Pontocerebellar hypoplasia type 1A	GLikely pathogenic
Select item 2858250	NM_003384.3(VRK1):c.219A>G (p.Glu73=)	VRK1	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2855315	NM_003384.3(VRK1):c.709+12G>A	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2854574	NM_003384.3(VRK1):c.217-12T>C	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2848995	NM_003384.3(VRK1):c.216+9T>C	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2848789	NM_003384.3(VRK1):c.1160-4C>G	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2847433	NM_003384.3(VRK1):c.837A>G (p.Arg279=)	VRK1	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2842418	NM_003384.3(VRK1):c.889+14T>C	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2842087	NM_003384.3(VRK1):c.709+7_709+12dup	VRK1	Duplication (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2841064	NM_003384.3(VRK1):c.374+15G>C	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2837237	NM_003384.3(VRK1):c.577-18G>T	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2835943	NM_003384.3(VRK1):c.502_503del (p.Ile168fs)	VRK1 (I168fs)	Microsatellite (frameshift variant)	Pontocerebellar hypoplasia type 1A	GPathogenic
Select item 2833888	NM_003384.3(VRK1):c.890-19G>C	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2830606	NM_003384.3(VRK1):c.576+18A>G	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2830422	NM_003384.3(VRK1):c.1068+20T>G	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2829544	NM_003384.3(VRK1):c.287-11T>C	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2829444	NM_003384.3(VRK1):c.161-10T>C	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2827152	NM_003384.3(VRK1):c.600T>C (p.Leu200=)	VRK1	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2825704	NM_003384.3(VRK1):c.779del (p.Pro260fs)	VRK1 (P260fs)	Deletion (frameshift variant)	Pontocerebellar hypoplasia type 1A	GPathogenic
Select item 2820077	NM_003384.3(VRK1):c.287-2A>C	VRK1	Single nucleotide variant (splice acceptor variant)	Pontocerebellar hypoplasia type 1A	GLikely pathogenic
Select item 2811671	NM_003384.3(VRK1):c.1072C>A (p.Arg358=)	VRK1	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2810357	NM_003384.3(VRK1):c.1159+18G>T	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2808835	NM_003384.3(VRK1):c.925C>G (p.Leu309Val)	VRK1 (L309V)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1A	GUncertain significance
Select item 2806121	NM_003384.3(VRK1):c.483+15T>A	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2803614	NM_003384.3(VRK1):c.1122A>G (p.Glu374=)	VRK1	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2802932	NM_003384.3(VRK1):c.1068+9T>C	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2800326	NM_003384.3(VRK1):c.483+12A>G	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2797934	NM_003384.3(VRK1):c.327T>A (p.Gly109=)	VRK1	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2794373	NM_003384.3(VRK1):c.217-8_217-7del	VRK1	Microsatellite (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2790812	NM_003384.3(VRK1):c.323T>C (p.Leu108Pro)	VRK1 (L108P)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1A	GUncertain significance
Select item 2789993	NM_003384.3(VRK1):c.1069-17T>G	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2780468	NM_003384.3(VRK1):c.483+17C>G	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2772068	NM_003384.3(VRK1):c.374+7dup	VRK1	Duplication (intron variant)	Pontocerebellar hypoplasia type 1A	GBenign
Select item 2770989	NM_003384.3(VRK1):c.1083A>G (p.Glu361=)	VRK1	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2769281	NM_003384.3(VRK1):c.831-16C>T	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2765078	NM_003384.3(VRK1):c.822C>T (p.Ser274=)	VRK1	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2764268	NM_003384.3(VRK1):c.237T>G (p.Pro79=)	VRK1	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2762642	NM_003384.3(VRK1):c.138A>G (p.Gly46=)	VRK1	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2761980	NM_003384.3(VRK1):c.222C>T (p.Pro74=)	VRK1	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2761074	NM_003384.3(VRK1):c.375-4T>C	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2760850	NM_003384.3(VRK1):c.831-12A>T	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2760817	NM_003384.3(VRK1):c.894A>G (p.Glu298=)	VRK1	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2754805	NM_003384.3(VRK1):c.854del (p.Ser284_Leu285insTer)	VRK1	Deletion (nonsense)	Pontocerebellar hypoplasia type 1A	GPathogenic
Select item 2752701	NM_003384.3(VRK1):c.889+15C>T	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2742849	NM_003384.3(VRK1):c.161-2A>G	VRK1	Single nucleotide variant (splice acceptor variant)	Pontocerebellar hypoplasia type 1A	GLikely pathogenic
Select item 2742800	NM_003384.3(VRK1):c.21T>C (p.Ala7=)	VRK1	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2740786	NM_003384.3(VRK1):c.709+14A>G	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2739648	NM_003384.3(VRK1):c.890-19G>A	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2739534	NM_003384.3(VRK1):c.280_284del (p.Glu94fs)	VRK1 (E94fs)	Deletion (frameshift variant)	Pontocerebellar hypoplasia type 1A	GPathogenic
Select item 2734526	NM_003384.3(VRK1):c.1069-12T>G	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2732657	NM_003384.3(VRK1):c.889+8A>G	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2729739	NM_003384.3(VRK1):c.286+15A>G	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2729630	NM_003384.3(VRK1):c.483+20dup	VRK1	Duplication (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2728560	NM_003384.3(VRK1):c.1159+11C>T	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2724908	NM_003384.3(VRK1):c.31A>T (p.Arg11Ter)	VRK1 (R11*)	Single nucleotide variant (nonsense)	Pontocerebellar hypoplasia type 1A	GPathogenic
Select item 2722588	NM_003384.3(VRK1):c.1069-17T>C	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2717633	NM_003384.3(VRK1):c.881del (p.Asn294fs)	VRK1 (N294fs)	Deletion (frameshift variant)	Pontocerebellar hypoplasia type 1A	GPathogenic
Select item 2716507	NM_003384.3(VRK1):c.1068+17_1068+21del	VRK1	Deletion (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2715392	NM_003384.3(VRK1):c.1160-14G>C	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2714041	NM_003384.3(VRK1):c.889+18C>T	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2713862	NM_003384.3(VRK1):c.710-9C>T	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2709855	NM_003384.3(VRK1):c.1176G>A (p.Lys392=)	VRK1	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1A	GLikely benign

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