C1843504[trait identifier] AND "Labcorp Genetics (formerly Invitae), L - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2036933	NM_003384.3(VRK1):c.-5-146A>G	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 533538	NM_003384.3(VRK1):c.6del (p.Arg3fs)	VRK1 (R3fs)	Deletion (frameshift variant)	Pontocerebellar hypoplasia type 1A +1 more	GConflicting classifications of pathogenicity
Select item 1044639	NM_003384.3(VRK1):c.7C>T (p.Arg3Cys)	VRK1 (R3C)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1A +1 more	GUncertain significance
Select item 643104	NM_003384.3(VRK1):c.8G>A (p.Arg3His)	VRK1 (R3H)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1A	GUncertain significance
Select item 1106863	NM_003384.3(VRK1):c.9T>G (p.Arg3=)	VRK1	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 847284	NM_003384.3(VRK1):c.9del (p.Arg3_Val4insTer)	VRK1	Deletion (frameshift variant)	Pontocerebellar hypoplasia type 1A	GPathogenic
Select item 2130552	NM_003384.3(VRK1):c.12A>T (p.Val4=)	VRK1	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
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 2101376	NM_003384.3(VRK1):c.22C>T (p.Gln8Ter)	VRK1 (Q8*)	Single nucleotide variant (nonsense)	Pontocerebellar hypoplasia type 1A	GPathogenic
Select item 649202	NM_003384.3(VRK1):c.26C>T (p.Ala9Val)	VRK1 (A9V)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1A	GUncertain significance
Select item 990857	NM_003384.3(VRK1):c.29G>A (p.Gly10Glu)	VRK1 (G10E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 1648469	NM_003384.3(VRK1):c.39C>T (p.Ser13=)	VRK1	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 130731	NM_003384.3(VRK1):c.45A>G (p.Ala15=)	VRK1	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1A +3 more	GBenign
Select item 1478915	NM_003384.3(VRK1):c.46A>G (p.Lys16Glu)	VRK1 (K16E)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1A	GUncertain significance
Select item 1559674	NM_003384.3(VRK1):c.57T>C (p.Leu19=)	VRK1	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 1104733	NM_003384.3(VRK1):c.66A>G (p.Gln22=)	VRK1	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2704968	NM_003384.3(VRK1):c.72A>G (p.Ala24=)	VRK1	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 1626693	NM_003384.3(VRK1):c.72A>C (p.Ala24=)	VRK1	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 948996	NM_003384.3(VRK1):c.82A>G (p.Ile28Val)	VRK1 (I28V)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1A	GUncertain significance
Select item 1459674	NM_003384.3(VRK1):c.103_104del (p.Lys35fs)	VRK1 (K35fs)	Deletion (frameshift variant)	Pontocerebellar hypoplasia type 1A	GPathogenic
Select item 1161192	NM_003384.3(VRK1):c.99A>C (p.Ala33=)	VRK1	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2428131	NM_003384.3(VRK1):c.105_108del (p.Lys35fs)	VRK1 (K35fs)	Deletion (frameshift variant)	Pontocerebellar hypoplasia type 1A	GPathogenic
Select item 1986307	NM_003384.3(VRK1):c.105G>A (p.Lys35=)	VRK1	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 1521399	NM_003384.3(VRK1):c.109T>A (p.Trp37Arg)	VRK1 (W37R)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1A	GUncertain significance
Select item 1071258	NM_003384.3(VRK1):c.110G>A (p.Trp37Ter)	VRK1 (W37*)	Single nucleotide variant (nonsense)	Pontocerebellar hypoplasia type 1A	GPathogenic
Select item 1910733	NM_003384.3(VRK1):c.120A>G (p.Gly40=)	VRK1	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 1423397	NM_003384.3(VRK1):c.127A>G (p.Ile43Val)	VRK1 (I43V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2100902	NM_003384.3(VRK1):c.133C>A (p.Gln45Lys)	VRK1 (Q45K)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1A	GUncertain significance
Select item 533536	NM_003384.3(VRK1):c.134A>G (p.Gln45Arg)	VRK1 (Q45R)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1A	GUncertain significance
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 1102987	NM_003384.3(VRK1):c.144T>C (p.Phe48=)	VRK1	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 2108163	NM_003384.3(VRK1):c.159_160insCATATATCTT (p.Ala54fs)	VRK1 (L53del +1 more)	Microsatellite (inframe_indel +1 more)	Pontocerebellar hypoplasia type 1A	GPathogenic
Select item 715506	NM_003384.3(VRK1):c.150T>C (p.Cys50=)	VRK1	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 966138	NM_003384.3(VRK1):c.151A>G (p.Ile51Val)	VRK1 (I51V)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1A +1 more	GUncertain significance
Select item 861842	NM_003384.3(VRK1):c.156T>A (p.Tyr52Ter)	VRK1 (Y52*)	Single nucleotide variant (nonsense)	Pontocerebellar hypoplasia type 1A	GPathogenic
Select item 2150009	NM_003384.3(VRK1):c.160+1del	VRK1	Deletion (splice donor variant)	Pontocerebellar hypoplasia type 1A	GPathogenic
Select item 1484348	NM_003384.3(VRK1):c.160+1G>T	VRK1	Single nucleotide variant (splice donor variant)	Pontocerebellar hypoplasia type 1A	GLikely pathogenic
Select item 888343	NM_003384.3(VRK1):c.161-14A>G	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GConflicting classifications of pathogenicity
Select item 1601313	NM_003384.3(VRK1):c.161-7dup	VRK1	Duplication (intron variant)	Pontocerebellar hypoplasia type 1A	GBenign
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 2119857	NM_003384.3(VRK1):c.161-6A>T	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 641662	NM_003384.3(VRK1):c.161-3C>T	VRK1	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
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 281245	NM_003384.3(VRK1):c.175T>G (p.Ser59Ala)	VRK1 (S59A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 451753	NM_003384.3(VRK1):c.176C>T (p.Ser59Leu)	VRK1 (S59L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1453030	NM_003384.3(VRK1):c.179_180del (p.Glu60fs)	VRK1 (E60fs)	Microsatellite (frameshift variant)	Pontocerebellar hypoplasia type 1A +1 more	GPathogenic
Select item 2125970	NM_003384.3(VRK1):c.183A>G (p.Ser61=)	VRK1	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 507516	NM_003384.3(VRK1):c.183A>C (p.Ser61=)	VRK1	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1A +2 more	GLikely benign
Select item 437263	NM_003384.3(VRK1):c.184G>A (p.Val62Ile)	VRK1 (V62I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1783781	NM_003384.3(VRK1):c.197C>T (p.Ala66Val)	VRK1 (A66V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1039944	NM_003384.3(VRK1):c.203G>A (p.Cys68Tyr)	VRK1 (C68Y)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1A	GUncertain significance
Select item 2122073	NM_003384.3(VRK1):c.216+1G>A	VRK1	Single nucleotide variant (splice donor variant)	Pontocerebellar hypoplasia type 1A	GLikely pathogenic
Select item 1066779	NM_003384.3(VRK1):c.216+1G>C	VRK1	Single nucleotide variant (splice donor variant)	Pontocerebellar hypoplasia type 1A +1 more	GLikely pathogenic
Select item 574652	NM_003384.3(VRK1):c.216+8A>G	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 1611382	NM_003384.3(VRK1):c.216+19A>G	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 2854574	NM_003384.3(VRK1):c.217-12T>C	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 2794373	NM_003384.3(VRK1):c.217-8_217-7del	VRK1	Microsatellite (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 1087828	NM_003384.3(VRK1):c.217-10A>G	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 1569032	NM_003384.3(VRK1):c.217-9del	VRK1	Deletion (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 1555644	NM_003384.3(VRK1):c.217-9T>C	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 1604348	NM_003384.3(VRK1):c.217-7T>C	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 1020836	NM_003384.3(VRK1):c.217-3A>G	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GUncertain significance
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 1071599	NM_003384.3(VRK1):c.222del (p.Ser75fs)	VRK1 (S75fs)	Deletion (frameshift variant)	Pontocerebellar hypoplasia type 1A +1 more	GPathogenic/Likely pathogenic
Select item 950122	NM_003384.3(VRK1):c.220C>G (p.Pro74Ala)	VRK1 (P74A)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1A	GUncertain significance
Select item 2103455	NM_003384.3(VRK1):c.221C>G (p.Pro74Arg)	VRK1 (P74R)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1A	GUncertain significance
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 1789401	NM_003384.3(VRK1):c.230A>G (p.Asn77Ser)	VRK1 (N77S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 1356150	NM_003384.3(VRK1):c.238C>G (p.Leu80Val)	VRK1 (L80V)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1A	GUncertain significance
Select item 1383457	NM_003384.3(VRK1):c.247G>A (p.Glu83Lys)	VRK1 (E83K)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1A	GUncertain significance
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 315121	NM_003384.3(VRK1):c.261C>T (p.Tyr87=)	VRK1	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1A +1 more	GConflicting classifications of pathogenicity
Select item 1592034	NM_003384.3(VRK1):c.264A>G (p.Gln88=)	VRK1	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 533537	NM_003384.3(VRK1):c.265C>T (p.Arg89Ter)	VRK1 (R89*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 197213	NM_003384.3(VRK1):c.266G>A (p.Arg89Gln)	VRK1 (R89Q)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1A +2 more	GConflicting classifications of pathogenicity
Select item 2062705	NM_003384.3(VRK1):c.270T>C (p.Ala90=)	VRK1	Single nucleotide variant (synonymous 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 1124328	NM_003384.3(VRK1):c.279A>T (p.Pro93=)	VRK1	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 970962	NM_003384.3(VRK1):c.284A>C (p.Gln95Pro)	VRK1 (Q95P)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1A	GUncertain significance
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 2029639	NM_003384.3(VRK1):c.286+11C>A	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 382217	NM_003384.3(VRK1):c.286+12A>G	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A +2 more	GBenign/Likely 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 1551593	NM_003384.3(VRK1):c.286+18C>T	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 1666252	NM_003384.3(VRK1):c.286+20T>C	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 422083	NM_003384.3(VRK1):c.287-8_287-7delinsTA	VRK1	Indel (intron variant)	not specified +1 more	GLikely benign
Select item 2175907	NM_003384.3(VRK1):c.287-7T>C	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 1613883	NM_003384.3(VRK1):c.287-4G>T	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
Select item 1581483	NM_003384.3(VRK1):c.287-4G>A	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
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 1984668	NM_003384.3(VRK1):c.291G>T (p.Gln97His)	VRK1 (Q97H)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1A	GUncertain significance
Select item 1483675	NM_003384.3(VRK1):c.302G>A (p.Arg101His)	VRK1 (R101H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1159372	NM_003384.3(VRK1):c.306C>G (p.Thr102=)	VRK1	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 1A	GLikely benign
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

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