7443[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	LOC130056359, LOC130056360 +663 more	Copy number gain	See cases	GPathogenic
Select item 146793	GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	LOC130056380, LOC130056381 +755 more	Copy number loss	See cases	GPathogenic
Select item 369085	NM_003384.2(VRK1):c.-110C>T	VRK1, LOC130056407	Single nucleotide variant	Pontoneocerebellar hypoplasia	GLikely benign
Select item 315120	NM_003384.2(VRK1):c.-81C>T	LOC130056407, VRK1	Single nucleotide variant	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 515189	NM_003384.3(VRK1):c.-48G>C	LOC130056407, VRK1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 514675	NM_003384.3(VRK1):c.-24G>T	LOC130056407, VRK1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 888342	NM_003384.3(VRK1):c.-11C>T	LOC130056407, VRK1	Single nucleotide variant (5 prime UTR variant)	Pontocerebellar hypoplasia type 1A	GUncertain significance
Select item 1272009	NM_003384.3(VRK1):c.-6+91C>T	VRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251145	NM_003384.3(VRK1):c.-6+145T>C	VRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 657389	NC_000014.9:g.(?_96810669)_(96860745_?)del	VRK1	Deletion	Congenital pontocerebellar hypoplasia type 1	GPathogenic
Select item 675686	NM_003384.3(VRK1):c.-5-213G>A	VRK1	Single nucleotide variant (intron variant)	not provided	GBenign
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 507728	NM_003384.3(VRK1):c.-5-7G>C	VRK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3058377	NM_003384.3(VRK1):c.-5-4A>G	VRK1	Single nucleotide variant (intron variant)	VRK1-related disorder	GLikely benign
Select item 533538	NM_003384.3(VRK1):c.6del (p.Arg3fs)	VRK1 (R3fs)	Deletion (frameshift variant)	Pontocerebellar hypoplasia type 1A	GPathogenic
Select item 1044639	NM_003384.3(VRK1):c.7C>T (p.Arg3Cys)	VRK1 (R3C)	Single nucleotide variant (missense variant)	not specified +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 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 1753892	NM_003384.3(VRK1):c.64C>G (p.Gln22Glu)	VRK1 (Q22E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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)	Inborn genetic diseases +1 more	GUncertain significance
Select item 624564	NM_003384.3(VRK1):c.156_160+3del	VRK1	Deletion (splice donor variant)	Pontocerebellar hypoplasia type 1B	GLikely pathogenic
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 1280277	NM_003384.3(VRK1):c.160+297G>A	VRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680838	NM_003384.3(VRK1):c.161-283C>T	VRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670271	NM_003384.3(VRK1):c.161-220A>G	VRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670272	NM_003384.3(VRK1):c.161-145A>G	VRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245286	NM_003384.3(VRK1):c.161-74A>T	VRK1	Single nucleotide variant (intron variant)	not provided	GBenign
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)	Pontocerebellar hypoplasia type 1A +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)	Pontocerebellar hypoplasia type 1A +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 +1 more	GUncertain significance
Select item 1453030	NM_003384.3(VRK1):c.179_180del (p.Glu60fs)	VRK1 (E60fs)	Microsatellite (frameshift variant)	Inborn genetic diseases +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)	Inborn genetic diseases +2 more	GLikely benign
Select item 437263	NM_003384.3(VRK1):c.184G>A (p.Val62Ile)	VRK1 (V62I)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1A +1 more	GUncertain significance
Select item 1783781	NM_003384.3(VRK1):c.197C>T (p.Ala66Val)	VRK1 (A66V)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1A +1 more	GUncertain significance
Select item 1679203	NM_003384.3(VRK1):c.197C>G (p.Ala66Gly)	VRK1 (A66G)	Single nucleotide variant (missense variant)	Distal spinal muscular atrophy	GLikely pathogenic
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 680843	NM_003384.3(VRK1):c.216+299T>C	VRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670273	NM_003384.3(VRK1):c.217-244T>C	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A +1 more	GBenign
Select item 584083	NC_000014.9:g.(?_96846075)_(96847364_?)del	VRK1	Deletion	Congenital pontocerebellar hypoplasia type 1	GPathogenic
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	GPathogenic

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