VRK3[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 2357067	NM_016440.4(VRK3):c.1403T>C (p.Ile468Thr)	VRK3 (I418T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189086	NM_016440.4(VRK3):c.1246G>A (p.Gly416Arg)	VRK3 (G366R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189085	NM_016440.4(VRK3):c.1178G>A (p.Cys393Tyr)	VRK3 (C343Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189084	NM_016440.4(VRK3):c.1145A>G (p.Lys382Arg)	VRK3 (K332R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458518	NM_016440.4(VRK3):c.1021G>T (p.Ala341Ser)	VRK3 (A291S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326914	NM_016440.4(VRK3):c.1009G>A (p.Gly337Ser)	VRK3 (G287S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189091	NM_016440.4(VRK3):c.995G>A (p.Arg332His)	VRK3 (R332H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189090	NM_016440.4(VRK3):c.982G>T (p.Gly328Cys)	VRK3 (G278C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393076	NM_016440.4(VRK3):c.935T>C (p.Ile312Thr)	VRK3 (I312T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545585	NM_016440.4(VRK3):c.814G>A (p.Val272Ile)	VRK3 (V222I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189089	NM_016440.4(VRK3):c.659G>A (p.Arg220Gln)	VRK3 (R170Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370237	NM_016440.4(VRK3):c.638A>G (p.Asn213Ser)	VRK3 (N163S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388346	NM_016440.4(VRK3):c.422A>G (p.Lys141Arg)	VRK3 (K141R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332327	NM_016440.4(VRK3):c.410C>T (p.Pro137Leu)	VRK3 (P87L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189088	NM_016440.4(VRK3):c.398C>T (p.Thr133Ile)	VRK3 (T83I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332326	NM_016440.4(VRK3):c.387C>A (p.Ser129Arg)	VRK3 (S79R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257238	NM_016440.4(VRK3):c.362G>T (p.Gly121Val)	VRK3 (G121V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189087	NM_016440.4(VRK3):c.271T>C (p.Ser91Pro)	VRK3 (S91P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2358976	NM_016440.4(VRK3):c.164G>A (p.Ser55Asn)	VRK3 (S55N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304420	NM_016440.4(VRK3):c.124G>A (p.Val42Met)	VRK3 (V42M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558167	NM_016440.4(VRK3):c.115A>G (p.Asn39Asp)	VRK3 (N39D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473455	NM_016440.4(VRK3):c.65G>A (p.Cys22Tyr)	VRK3 (C22Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 157456	NM_001025778.1(VRK3):c.-376583_-65+1628dup	IZUMO2, KCNC3 +46 more	Duplication	Normal pregnancy	Gnot provided
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 2426877	NC_000019.9:g.(?_50411496)_(50766697_?)dup	ATF5, IL4I1 +6 more	Duplication	not provided	GUncertain significance
Select item 1526671	GRCh37/hg19 19q13.33(chr19:50355646-50552140)	AKT1S1, ATF5 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1526670	GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438)	FPR3, ZNF577 +115 more	Copy number gain	not specified	GLikely pathogenic
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 816089	GRCh37/hg19 19q13.33-13.41(chr19:50469730-51916485)x3	ACP4, ASPDH +46 more	Copy number gain	not provided	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 686542	GRCh37/hg19 19q13.33(chr19:49600909-51366070)x3	C19orf81, CD37 +66 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic
Select item 394002	GRCh37/hg19 19q13.33(chr19:50391979-50665993)x3	ATF5, IL4I1 +6 more	Copy number gain	See cases	GUncertain significance

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Items: 40