"GeneDx"[submitter] AND "VRK1"[gene] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 675686	NM_003384.3(VRK1):c.-5-213G>A	VRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 507728	NM_003384.3(VRK1):c.-5-7G>C	VRK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 130731	NM_003384.3(VRK1):c.45A>G (p.Ala15=)	VRK1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
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 281245	NM_003384.3(VRK1):c.175T>G (p.Ser59Ala)	VRK1 (S59A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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)	Pontocerebellar hypoplasia type 1A +1 more	GUncertain significance
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 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 382217	NM_003384.3(VRK1):c.286+12A>G	VRK1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 670274	NM_003384.3(VRK1):c.286+141G>A	VRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672717	NM_003384.3(VRK1):c.287-192G>T	VRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 422083	NM_003384.3(VRK1):c.287-8_287-7delinsTA	VRK1	Indel (intron variant)	Pontocerebellar hypoplasia type 1A +1 more	GLikely benign
Select item 209204	NM_003384.3(VRK1):c.356A>G (p.His119Arg)	VRK1 (H119R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 424454	NM_003384.3(VRK1):c.362A>G (p.Lys121Arg)	VRK1 (K121R)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1A +2 more	GUncertain significance
Select item 1291430	NM_003384.3(VRK1):c.374+90dup	VRK1	Duplication (intron variant)	not provided	GBenign
Select item 1195605	NM_003384.3(VRK1):c.374+204T>C	VRK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 315122	NM_003384.3(VRK1):c.375-8G>C	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A +1 more	GBenign
Select item 641045	NM_003384.3(VRK1):c.418A>G (p.Lys140Glu)	VRK1 (K140E)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 449197	NM_003384.3(VRK1):c.526G>A (p.Gly176Arg)	VRK1 (G176R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 681847	NM_003384.3(VRK1):c.576+4G>C	VRK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1206861	NM_003384.3(VRK1):c.577-301C>T	VRK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196721	NM_003384.3(VRK1):c.577-267_577-263del	VRK1	Deletion (intron variant)	not provided	GLikely benign
Select item 1191442	NM_003384.3(VRK1):c.577-187A>T	VRK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 512067	NM_003384.3(VRK1):c.577-19G>C	VRK1	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 1A +1 more	GLikely benign
Select item 580037	NM_003384.3(VRK1):c.607C>T (p.Arg203Trp)	VRK1 (R203W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 651537	NM_003384.3(VRK1):c.683C>T (p.Thr228Met)	VRK1 (T228M)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1312154	NM_003384.3(VRK1):c.705C>G (p.Gly235=)	VRK1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 130732	NM_003384.3(VRK1):c.705C>T (p.Gly235=)	VRK1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 218924	NM_003384.3(VRK1):c.706G>A (p.Val236Met)	VRK1 (V236M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 678410	NM_003384.3(VRK1):c.709+75G>A	VRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678411	NM_003384.3(VRK1):c.709+76C>T	VRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678412	NM_003384.3(VRK1):c.709+143G>A	VRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680836	NM_003384.3(VRK1):c.710-331G>A	VRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3364794	NM_003384.3(VRK1):c.722G>A (p.Arg241His)	VRK1 (R241H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1189423	NM_003384.3(VRK1):c.831-18T>A	VRK1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 515402	NM_003384.3(VRK1):c.831-12A>G	VRK1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 387303	NM_003384.3(VRK1):c.846T>C (p.Ile282=)	VRK1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 130730	NM_003384.3(VRK1):c.858G>T (p.Met286Ile)	VRK1 (M286I)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 464942	NM_003384.3(VRK1):c.883_886del (p.Lys295fs)	VRK1 (K295fs)	Microsatellite (frameshift variant)	Pontocerebellar hypoplasia type 1A +1 more	GPathogenic/Likely pathogenic
Select item 672718	NM_003384.3(VRK1):c.889+163A>T	VRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680844	NM_003384.3(VRK1):c.889+261G>T	VRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680841	NM_003384.3(VRK1):c.889+306C>T	VRK1	Single nucleotide variant (intron variant)	not provided	GBenign
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 209205	NM_003384.3(VRK1):c.961C>T (p.Arg321Cys)	VRK1 (R321C)	Single nucleotide variant (missense variant)	Juvenile amyotrophic lateral sclerosis +2 more	GConflicting classifications of pathogenicity
Select item 619220	NM_003384.3(VRK1):c.976C>T (p.Gln326Ter)	VRK1 (Q326*)	Single nucleotide variant (nonsense)	Pontocerebellar hypoplasia type 1A +1 more	GPathogenic
Select item 378856	NM_003384.3(VRK1):c.1020C>T (p.Asp340=)	VRK1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 451762	NM_003384.3(VRK1):c.1021C>T (p.Leu341Phe)	VRK1 (L341F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1308006	NM_003384.3(VRK1):c.1024A>T (p.Ser342Cys)	VRK1 (S342C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 193863	NM_003384.3(VRK1):c.1058_1060del (p.Thr353del)	VRK1 (T353del)	Deletion (inframe_deletion)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1246680	NM_003384.3(VRK1):c.1068+27_1068+28dup	VRK1	Duplication (intron variant)	not provided	GBenign
Select item 1220331	NM_003384.3(VRK1):c.1068+65_1068+66del	VRK1	Deletion (intron variant)	not provided	GLikely benign
Select item 1241079	NM_003384.3(VRK1):c.1068+110G>A	VRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216163	NM_003384.3(VRK1):c.1068+207A>G	VRK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218150	NM_003384.3(VRK1):c.1068+299C>T	VRK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217682	NM_003384.3(VRK1):c.1069-287T>G	VRK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670863	NM_003384.3(VRK1):c.1069-236del	VRK1	Deletion (intron variant)	not provided	GBenign
Select item 1206773	NM_003384.3(VRK1):c.1069-33A>C	VRK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 420569	NM_003384.3(VRK1):c.1069-32TC[8]	VRK1	Microsatellite (intron variant)	not specified	GLikely benign
Select item 7497	NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter)	VRK1 (R358*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 212586	NM_003384.3(VRK1):c.1150A>G (p.Ile384Val)	VRK1 (I384V)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 971416	NM_003384.3(VRK1):c.1159C>T (p.Arg387Cys)	VRK1 (R387C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 848771	NM_003384.3(VRK1):c.1159+1G>A	VRK1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 675687	NM_003384.3(VRK1):c.1159+43C>G	VRK1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1181347	NM_003384.3(VRK1):c.1159+138G>A	VRK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 998862	NM_003384.3(VRK1):c.1166G>A (p.Arg389Lys)	VRK1 (R389K)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1A +1 more	GUncertain significance

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Items: 76