"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "PJVK"[g - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 583796	NC_000002.11:g.(?_179296804)_(179456251_?)dup	CHROMR, FKBP7 +17 more	Duplication	Dystonia 16	GUncertain significance
Select item 332633	NM_003690.5(PRKRA):c.32C>T (p.Pro11Leu)	PJVK, PRKRA (P11L)	Single nucleotide variant (5 prime UTR variant +1 more)	Dystonic disorder +3 more	GBenign/Likely benign
Select item 332634	NM_003690.5(PRKRA):c.22_23del (p.Ala8fs)	PJVK, PRKRA (A8fs)	Microsatellite (5 prime UTR variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 332635	NM_003690.5(PRKRA):c.1A>C (p.Met1Leu)	PJVK, PRKRA (M1L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +4 more	GBenign/Likely benign
Select item 2702065	NM_001042702.5(PJVK):c.18C>G (p.Thr6=)	PJVK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2746345	NM_001042702.5(PJVK):c.33G>A (p.Lys11=)	PJVK	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2719460	NM_001042702.5(PJVK):c.56T>G (p.Leu19Ter)	PJVK (L54* +2 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 43872	NM_001042702.5(PJVK):c.86A>G (p.Asp29Gly)	PJVK (D29G +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1197111	NM_001042702.5(PJVK):c.87C>A (p.Asp29Glu)	PJVK (D29E +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2718001	NM_001042702.5(PJVK):c.93T>G (p.Tyr31Ter)	PJVK (Y66* +2 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 2869708	NM_001042702.5(PJVK):c.96A>G (p.Gln32=)	PJVK	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3008805	NM_001042702.5(PJVK):c.102A>G (p.Leu34=)	PJVK	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 504900	NM_001042702.5(PJVK):c.102A>T (p.Leu34=)	PJVK	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 2807695	NM_001042702.5(PJVK):c.131_134del (p.Phe44fs)	PJVK (F47fs +2 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 2705716	NM_001042702.5(PJVK):c.132T>C (p.Phe44=)	PJVK	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3017258	NM_001042702.5(PJVK):c.135G>C (p.Leu45=)	PJVK	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 796829	NM_001042702.5(PJVK):c.147T>C (p.Tyr49=)	PJVK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2876175	NM_001042702.5(PJVK):c.171A>G (p.Thr57=)	PJVK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2998266	NM_001042702.5(PJVK):c.174G>C (p.Leu58=)	PJVK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2117325	NM_001042702.5(PJVK):c.182T>C (p.Ile61Thr)	PJVK (I61T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2908781	NM_001042702.5(PJVK):c.186C>G (p.Leu62=)	PJVK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2831368	NM_001042702.5(PJVK):c.190_194del (p.Gly64fs)	PJVK (G64fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2181562	NM_001042702.5(PJVK):c.193G>A (p.Asp65Asn)	PJVK (D68N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2993704	NM_001042702.5(PJVK):c.195C>T (p.Asp65=)	PJVK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2803977	NM_001042702.5(PJVK):c.206C>G (p.Ser69Ter)	PJVK (S104* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1683211	NM_001042702.5(PJVK):c.211+9A>C	PJVK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2834711	NM_001042702.5(PJVK):c.211+15T>C	PJVK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2693535	NM_001042702.5(PJVK):c.211+18G>A	PJVK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964687	NM_001042702.5(PJVK):c.212-20C>T	PJVK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 163061	NM_001042702.5(PJVK):c.212-12C>A	PJVK	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2782761	NM_001042702.5(PJVK):c.212-2A>G	PJVK	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 894113	NM_001042702.5(PJVK):c.216T>C (p.Ile72=)	PJVK	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive nonsyndromic hearing loss 59 +1 more	GConflicting classifications of pathogenicity
Select item 2787962	NM_001042702.5(PJVK):c.222T>C (p.Ser74=)	PJVK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2794907	NM_001042702.5(PJVK):c.240T>C (p.Tyr80=)	PJVK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2871333	NM_001042702.5(PJVK):c.249A>G (p.Glu83=)	PJVK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 290802	NM_001042702.5(PJVK):c.250T>A (p.Ser84Thr)	PJVK (S84T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2795261	NM_001042702.5(PJVK):c.267T>C (p.Tyr89=)	PJVK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2777948	NM_001042702.5(PJVK):c.274C>A (p.Arg92=)	PJVK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2734336	NM_001042702.5(PJVK):c.274C>T (p.Arg92Ter)	PJVK (R127* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 257310	NM_001042702.5(PJVK):c.279T>C (p.Gly93=)	PJVK	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2698267	NM_001042702.5(PJVK):c.285T>C (p.His95=)	PJVK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2967535	NM_001042702.5(PJVK):c.288T>A (p.Ile96=)	PJVK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 894114	NM_001042702.5(PJVK):c.297C>T (p.Asp99=)	PJVK	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 332659	NM_001042702.5(PJVK):c.298G>A (p.Val100Ile)	PJVK (V100I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2875650	NM_001042702.5(PJVK):c.309C>T (p.Asn103=)	PJVK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3012023	NM_001042702.5(PJVK):c.321A>G (p.Ser107=)	PJVK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2907690	NM_001042702.5(PJVK):c.336G>A (p.Val112=)	PJVK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1683212	NM_001042702.5(PJVK):c.340G>T (p.Ala114Ser)	PJVK (A114S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1935986	NM_001042702.5(PJVK):c.391_392insTA (p.Lys131fs)	PJVK (K131fs +2 more)	Insertion (frameshift variant +1 more)	not provided	GPathogenic
Select item 163062	NM_001042702.5(PJVK):c.405A>C (p.Thr135=)	PJVK	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 560905	NM_001042702.5(PJVK):c.406C>T (p.Arg136Ter)	PJVK (R136* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 2973326	NM_001042702.5(PJVK):c.407+8_407+11del	PJVK	Deletion (intron variant)	not provided	GLikely benign
Select item 2743564	NM_001042702.5(PJVK):c.407+12A>C	PJVK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 163063	NM_001042702.5(PJVK):c.407+15C>G	PJVK	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2752989	NM_001042702.5(PJVK):c.407+20T>A	PJVK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975018	NM_001042702.5(PJVK):c.408-16A>G	PJVK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2825355	NM_001042702.5(PJVK):c.408-4T>G	PJVK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2793023	NM_001042702.5(PJVK):c.417C>T (p.Asn139=)	PJVK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2966539	NM_001042702.5(PJVK):c.420del (p.Phe140fs)	PJVK (F143fs +2 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2137405	NM_001042702.5(PJVK):c.436C>T (p.Arg146Cys)	PJVK (R149C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2969586	NM_001042702.5(PJVK):c.438T>C (p.Arg146=)	PJVK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1683213	NM_001042702.5(PJVK):c.445A>G (p.Arg149Gly)	PJVK (R149G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3023691	NM_001042702.5(PJVK):c.456A>G (p.Arg152=)	PJVK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2963745	NM_001042702.5(PJVK):c.462A>G (p.Ala154=)	PJVK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2715134	NM_001042702.5(PJVK):c.471T>C (p.Cys157=)	PJVK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2762076	NM_001042702.5(PJVK):c.483G>A (p.Glu161=)	PJVK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987848	NM_001042702.5(PJVK):c.490C>T (p.Arg164Ter)	PJVK (R199* +3 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2186256	NM_001042702.5(PJVK):c.491G>A (p.Arg164Gln)	PJVK (R167Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1300	NM_001042702.5(PJVK):c.499C>T (p.Arg167Ter)	PJVK (R167* +3 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2818392	NM_001042702.5(PJVK):c.501A>G (p.Arg167=)	PJVK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2834259	NM_001042702.5(PJVK):c.513G>A (p.Leu171=)	PJVK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2817859	NM_001042702.5(PJVK):c.522T>C (p.His174=)	PJVK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2866558	NM_001042702.5(PJVK):c.525T>C (p.Ala175=)	PJVK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957246	NM_001042702.5(PJVK):c.532C>T (p.Arg178Ter)	PJVK (R213* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 1683214	NM_001042702.5(PJVK):c.547C>A (p.Arg183=)	PJVK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1297	NM_001042702.5(PJVK):c.547C>T (p.Arg183Trp)	PJVK (R183W +3 more)	Single nucleotide variant (missense variant)	Ear malformation +2 more	GPathogenic
Select item 2973410	NM_001042702.5(PJVK):c.549+11C>T	PJVK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2840944	NM_001042702.5(PJVK):c.549+12T>G	PJVK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2752241	NM_001042702.5(PJVK):c.549+13del	PJVK	Deletion (intron variant)	not provided	GLikely benign
Select item 2881571	NM_001042702.5(PJVK):c.549+13T>G	PJVK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987901	NM_001042702.5(PJVK):c.549+14G>A	PJVK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2776357	NM_001042702.5(PJVK):c.549+15T>C	PJVK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965326	NM_001042702.5(PJVK):c.549+17G>C	PJVK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964099	NM_001042702.5(PJVK):c.549+18G>T	PJVK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962501	NM_001042702.5(PJVK):c.550-21TTAT[2]	PJVK	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2728259	NM_001042702.5(PJVK):c.550-11A>T	PJVK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1940199	NM_001042702.5(PJVK):c.559A>G (p.Met187Val)	PJVK (M222V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2172057	NM_001042702.5(PJVK):c.579G>A (p.Lys193=)	PJVK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2793118	NM_001042702.5(PJVK):c.583A>C (p.Arg195=)	PJVK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872801	NM_001042702.5(PJVK):c.585G>A (p.Arg195=)	PJVK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871258	NM_001042702.5(PJVK):c.588C>T (p.Asp196=)	PJVK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2826295	NM_001042702.5(PJVK):c.618C>T (p.Thr206=)	PJVK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2721929	NM_001042702.5(PJVK):c.639A>G (p.Glu213=)	PJVK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2860882	NM_001042702.5(PJVK):c.642C>G (p.Leu214=)	PJVK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2754331	NM_001042702.5(PJVK):c.652C>T (p.Leu218=)	PJVK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1961243	NM_001042702.5(PJVK):c.663C>T (p.Ala221=)	PJVK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887869	NM_001042702.5(PJVK):c.667+1G>A	PJVK	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1988886	NM_001042702.5(PJVK):c.667+9A>C	PJVK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2826856	NM_001042702.5(PJVK):c.667+13T>C	PJVK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2854206	NM_001042702.5(PJVK):c.667+16G>C	PJVK	Single nucleotide variant (intron variant)	not provided	GLikely benign

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