"Eurofins Ntd Llc (ga)"[submitter] AND "PCNT"[gene] - ClinVar

Search results

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 282936	NM_006031.6(PCNT):c.24G>C (p.Arg8=)	PCNT	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 282263	NM_006031.6(PCNT):c.247G>C (p.Gly83Arg)	PCNT (G83R)	Single nucleotide variant (5 prime UTR variant +1 more)	PCNT-related disorder +1 more	GUncertain significance
Select item 196431	NM_006031.6(PCNT):c.405C>T (p.Val135=)	PCNT	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 287864	NM_006031.6(PCNT):c.418C>T (p.Pro140Ser)	PCNT (P140S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 340460	NM_006031.6(PCNT):c.445A>G (p.Ser149Gly)	PCNT (S149G +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +1 more	GUncertain significance
Select item 282234	NM_006031.6(PCNT):c.481_519dup (p.Val161_Thr173dup)	PCNT	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 159608	NM_006031.6(PCNT):c.467A>G (p.His156Arg)	PCNT (H156R +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GConflicting classifications of pathogenicity
Select item 138612	NM_006031.6(PCNT):c.498A>G (p.Pro166=)	PCNT	Single nucleotide variant (synonymous variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GBenign
Select item 512489	NM_006031.6(PCNT):c.688C>T (p.Arg230Cys)	PCNT (R230C +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 95341	NM_006031.6(PCNT):c.720+17T>C	PCNT	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 159653	NM_006031.6(PCNT):c.721-7G>A	PCNT	Single nucleotide variant (intron variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GBenign
Select item 499137	NM_006031.6(PCNT):c.874C>G (p.Leu292Val)	PCNT (L292V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 281583	NM_006031.6(PCNT):c.930C>T (p.His310=)	PCNT	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 197781	NM_006031.6(PCNT):c.959G>A (p.Arg320Lys)	PCNT (R320K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 282085	NM_006031.6(PCNT):c.1084C>T (p.Arg362Cys)	PCNT (R362C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 291038	NM_006031.6(PCNT):c.1246A>G (p.Ile416Val)	PCNT (I416V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 281565	NM_006031.6(PCNT):c.1281C>T (p.His427=)	PCNT	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 287858	NM_006031.6(PCNT):c.1593G>A (p.Glu531=)	PCNT	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 211846	NM_006031.6(PCNT):c.1943C>G (p.Pro648Arg)	PCNT (P648R +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 281569	NM_006031.6(PCNT):c.2033A>G (p.Lys678Arg)	PCNT (K678R +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 285367	NM_006031.6(PCNT):c.2108A>T (p.Tyr703Phe)	PCNT (Y703F +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 284081	NM_006031.6(PCNT):c.2610-8T>C	PCNT	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 159575	NM_006031.6(PCNT):c.2635A>G (p.Thr879Ala)	PCNT (T879A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 211849	NM_006031.6(PCNT):c.2833C>T (p.Arg945Cys)	PCNT (R945C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 159579	NM_006031.6(PCNT):c.2928C>G (p.Leu976=)	PCNT	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 593539	NM_006031.6(PCNT):c.2947C>T (p.Arg983Cys)	PCNT (R983C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 159580	NM_006031.6(PCNT):c.2984_2994del (p.Ala995fs)	PCNT (A995fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 159581	NM_006031.6(PCNT):c.3113T>C (p.Val1038Ala)	PCNT (V1038A +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GBenign
Select item 285169	NM_006031.6(PCNT):c.3166-2A>C	PCNT	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 286623	NM_006031.6(PCNT):c.3441C>T (p.Asp1147=)	PCNT	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 502484	NM_006031.6(PCNT):c.3457A>G (p.Ser1153Gly)	PCNT (S1153G +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GLikely benign
Select item 502494	NM_006031.6(PCNT):c.3464+4A>T	PCNT	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 159589	NM_006031.6(PCNT):c.3487C>T (p.Arg1163Cys)	PCNT (R1163C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 499927	NM_006031.6(PCNT):c.3532A>G (p.Thr1178Ala)	PCNT (T1178A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 194854	NM_006031.6(PCNT):c.3549C>T (p.Ile1183=)	PCNT	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 159593	NM_006031.6(PCNT):c.3748C>T (p.Arg1250Trp)	PCNT (R1250W +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GLikely benign
Select item 498776	NM_006031.6(PCNT):c.3757G>T (p.Glu1253Ter)	PCNT (E1253* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 195500	NM_006031.6(PCNT):c.3885T>C (p.Phe1295=)	PCNT	Single nucleotide variant (synonymous variant)	Microcephalic osteodysplastic primordial dwarfism type II +1 more	GConflicting classifications of pathogenicity
Select item 195605	NM_006031.6(PCNT):c.4109G>A (p.Arg1370Gln)	PCNT (R1370Q +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +1 more	GUncertain significance
Select item 211857	NM_006031.6(PCNT):c.4140G>A (p.Ala1380=)	PCNT	Single nucleotide variant (synonymous variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GConflicting classifications of pathogenicity
Select item 159597	NM_006031.6(PCNT):c.4197C>T (p.Asp1399=)	PCNT	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 159599	NM_006031.6(PCNT):c.4285C>T (p.Arg1429Cys)	PCNT (R1429C +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GBenign/Likely benign
Select item 159601	NM_006031.6(PCNT):c.4345C>G (p.Gln1449Glu)	PCNT (Q1449E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 159602	NM_006031.6(PCNT):c.4354G>A (p.Gly1452Arg)	PCNT (G1452R +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +3 more	GBenign/Likely benign
Select item 159605	NM_006031.6(PCNT):c.4571C>G (p.Pro1524Arg)	PCNT (P1524R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 284371	NM_006031.6(PCNT):c.4576G>A (p.Asp1526Asn)	PCNT (D1526N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 499448	NM_006031.6(PCNT):c.4675A>T (p.Met1559Leu)	PCNT (M1559L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 593370	NM_006031.6(PCNT):c.4863T>G (p.Asp1621Glu)	PCNT (D1621E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 499765	NM_006031.6(PCNT):c.4946T>C (p.Leu1649Pro)	PCNT (L1649P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 284216	NM_006031.6(PCNT):c.5074G>A (p.Val1692Ile)	PCNT (V1692I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 159617	NM_006031.6(PCNT):c.5199G>A (p.Lys1733=)	PCNT	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 95336	NM_006031.6(PCNT):c.5522A>G (p.Asn1841Ser)	PCNT (N1841S +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GBenign
Select item 282937	NM_006031.6(PCNT):c.5563C>A (p.Arg1855=)	PCNT	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 502489	NM_006031.6(PCNT):c.5614G>A (p.Glu1872Lys)	PCNT (E1872K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 95337	NM_006031.6(PCNT):c.5631C>T (p.Ile1877=)	PCNT	Single nucleotide variant (synonymous variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GBenign
Select item 95338	NM_006031.6(PCNT):c.5634C>T (p.Asp1878=)	PCNT	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 95339	NM_006031.6(PCNT):c.5771C>T (p.Ala1924Val)	PCNT (A1924V +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GBenign/Likely benign
Select item 287397	NM_006031.6(PCNT):c.5855C>T (p.Ala1952Val)	PCNT (A1952V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 95340	NM_006031.6(PCNT):c.5858G>A (p.Arg1953His)	PCNT (R1953H +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GBenign
Select item 502491	NM_006031.6(PCNT):c.5872C>G (p.His1958Asp)	PCNT (H1958D +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GLikely benign
Select item 284339	NM_006031.6(PCNT):c.5975C>T (p.Pro1992Leu)	PCNT (P1992L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 283829	NM_006031.6(PCNT):c.6261G>A (p.Gln2087=)	PCNT	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 287862	NM_006031.6(PCNT):c.6625G>A (p.Ala2209Thr)	PCNT (A2209T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 159639	NM_006031.6(PCNT):c.6634C>T (p.Arg2212Trp)	PCNT (R2212W +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 281563	NM_006031.6(PCNT):c.6635G>A (p.Arg2212Gln)	PCNT (R2212Q +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 288217	NM_006031.6(PCNT):c.6876C>T (p.Ala2292=)	PCNT	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 159646	NM_006031.6(PCNT):c.6957T>G (p.Phe2319Leu)	PCNT (F2319L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 196786	NM_006031.6(PCNT):c.7136C>T (p.Pro2379Leu)	PCNT (P2379L +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +1 more	GUncertain significance
Select item 497721	NM_006031.6(PCNT):c.7180-7G>A	PCNT	Single nucleotide variant (intron variant)	Microcephalic osteodysplastic primordial dwarfism type II +1 more	GConflicting classifications of pathogenicity
Select item 284215	NM_006031.6(PCNT):c.7300C>A (p.Leu2434Ile)	PCNT (L2434I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 196907	NM_006031.6(PCNT):c.7464C>G (p.Leu2488=)	PCNT	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 502313	NM_006031.6(PCNT):c.7574G>A (p.Arg2525His)	PCNT (R2525H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 138605	NM_006031.6(PCNT):c.7652C>T (p.Ala2551Val)	PCNT (A2551V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 159661	NM_006031.6(PCNT):c.7655G>A (p.Arg2552His)	PCNT (R2552H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 159662	NM_006031.6(PCNT):c.7656C>T (p.Arg2552=)	PCNT	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 159668	NM_006031.6(PCNT):c.7914-16C>T	PCNT	Single nucleotide variant (intron variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GBenign
Select item 597349	NM_006031.6(PCNT):c.7966G>C (p.Glu2656Gln)	PCNT (E2656Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 159670	NM_006031.6(PCNT):c.7977G>C (p.Gln2659His)	PCNT (Q2659H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 159671	NM_006031.6(PCNT):c.8375A>G (p.Gln2792Arg)	PCNT (Q2792R +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 167430	NM_006031.6(PCNT):c.8401G>C (p.Val2801Leu)	PCNT (V2801L +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GConflicting classifications of pathogenicity
Select item 159673	NM_006031.6(PCNT):c.8418G>A (p.Ala2806=)	PCNT	Single nucleotide variant (synonymous variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GBenign
Select item 138611	NM_006031.6(PCNT):c.8671G>A (p.Ala2891Thr)	PCNT (A2891T)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 95342	NM_006031.6(PCNT):c.8752-5A>C	PCNT	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 95343	NM_006031.6(PCNT):c.8811A>G (p.Thr2937=)	PCNT	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 159679	NM_006031.6(PCNT):c.8889G>A (p.Ser2963=)	PCNT	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 159680	NM_006031.6(PCNT):c.8895G>A (p.Ala2965=)	PCNT	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 197082	NM_006031.6(PCNT):c.8947C>T (p.Leu2983Phe)	PCNT (L2983F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 95344	NM_006031.6(PCNT):c.8988C>T (p.Ala2996=)	PCNT	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 498522	NM_006031.6(PCNT):c.8989G>A (p.Val2997Met)	PCNT (V2997M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 197441	NM_006031.6(PCNT):c.9146T>C (p.Leu3049Pro)	PCNT (L3049P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 281342	NM_006031.6(PCNT):c.9217G>A (p.Val3073Met)	PCNT (V3073M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 502487	NM_006031.6(PCNT):c.9247C>T (p.His3083Tyr)	PCNT (H3083Y +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 159690	NM_006031.6(PCNT):c.9274-3C>T	PCNT	Single nucleotide variant (intron variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GBenign
Select item 197490	NM_006031.6(PCNT):c.9594G>A (p.Thr3198=)	PCNT	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 502482	NM_006031.6(PCNT):c.9700+10C>T	PCNT	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 197527	NM_006031.6(PCNT):c.9707G>A (p.Arg3236Gln)	PCNT (R3236Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 288331	NM_006031.6(PCNT):c.9840-4G>A	PCNT	Single nucleotide variant (intron variant)	Microcephalic osteodysplastic primordial dwarfism type II +1 more	GConflicting classifications of pathogenicity
Select item 197570	NM_006031.6(PCNT):c.10007A>G (p.Gln3336Arg)	PCNT (Q3336R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 98