C0432246[trait identifier] AND "Genetic Services Laboratory, Universit - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 436252	NM_006031.6(PCNT):c.16G>C (p.Glu6Gln)	PCNT (E6Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 138618	NM_006031.6(PCNT):c.54+6C>T	PCNT	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 159620	NM_006031.6(PCNT):c.55-5C>T	LOC128092249, PCNT	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 436240	NM_006031.6(PCNT):c.138C>T (p.Val46=)	LOC128092249, PCNT	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 436172	NM_006031.6(PCNT):c.139G>C (p.Asp47His)	LOC128092249, PCNT (D47H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GUncertain significance
Select item 159570	NM_006031.6(PCNT):c.244G>A (p.Ala82Thr)	PCNT (A82T)	Single nucleotide variant (5 prime UTR variant +1 more)	PCNT-related disorder +2 more	GUncertain significance
Select item 211852	NM_006031.6(PCNT):c.321G>T (p.Lys107Asn)	PCNT (K107N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GUncertain significance
Select item 159586	NM_006031.6(PCNT):c.336T>C (p.His112=)	PCNT	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GConflicting classifications of pathogenicity
Select item 159587	NM_006031.6(PCNT):c.339T>A (p.Pro113=)	PCNT	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GConflicting classifications of pathogenicity
Select item 159598	NM_006031.6(PCNT):c.427C>T (p.Arg143Cys)	PCNT (R143C +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GUncertain significance
Select item 211862	NM_006031.6(PCNT):c.467_505dup (p.His156_Gln168dup)	PCNT	Duplication (inframe_insertion)	not specified +3 more	GBenign/Likely benign
Select item 159600	NM_006031.6(PCNT):c.428G>A (p.Arg143His)	PCNT (R143H +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 159609	NM_006031.6(PCNT):c.467_505del (p.His156_Gln168del)	PCNT	Deletion (inframe_deletion)	not provided +2 more	GBenign/Likely benign
Select item 159604	NM_006031.6(PCNT):c.445A>T (p.Ser149Cys)	PCNT (S149C +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GConflicting classifications of pathogenicity
Select item 159608	NM_006031.6(PCNT):c.467A>G (p.His156Arg)	PCNT (H156R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 138612	NM_006031.6(PCNT):c.498A>G (p.Pro166=)	PCNT	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 159616	NM_006031.6(PCNT):c.506G>A (p.Arg169His)	PCNT (R169H +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 138613	NM_006031.6(PCNT):c.520A>G (p.Ile174Val)	PCNT (I174V +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 397627	NM_006031.6(PCNT):c.644G>A (p.Cys215Tyr)	PCNT (C215Y +1 more)	Single nucleotide variant (missense variant)	Global developmental delay +4 more	GConflicting classifications of pathogenicity
Select item 512489	NM_006031.6(PCNT):c.688C>T (p.Arg230Cys)	PCNT (R230C +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +3 more	GConflicting classifications of pathogenicity
Select item 138615	NM_006031.6(PCNT):c.711T>G (p.His237Gln)	PCNT (H237Q +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 95341	NM_006031.6(PCNT):c.720+17T>C	PCNT	Single nucleotide variant (intron variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GBenign
Select item 159653	NM_006031.6(PCNT):c.721-7G>A	PCNT	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 340463	NM_006031.6(PCNT):c.721-5C>T	PCNT	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 159691	NM_006031.6(PCNT):c.931G>A (p.Ala311Thr)	PCNT (A311T +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II	GUncertain significance
Select item 197781	NM_006031.6(PCNT):c.959G>A (p.Arg320Lys)	PCNT (R320K +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1336454	NM_006031.6(PCNT):c.979G>C (p.Glu327Gln)	PCNT (E209Q +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 159563	NM_006031.6(PCNT):c.1040A>G (p.Lys347Arg)	PCNT (K347R +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GConflicting classifications of pathogenicity
Select item 340469	NM_006031.6(PCNT):c.1185T>C (p.Phe395=)	PCNT	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 436178	NM_006031.6(PCNT):c.1335A>G (p.Lys445=)	PCNT	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 340471	NM_006031.6(PCNT):c.1370A>G (p.Glu457Gly)	PCNT (E457G +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +3 more	GConflicting classifications of pathogenicity
Select item 211843	NM_006031.6(PCNT):c.1457-5T>A	PCNT	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
Select item 159565	NM_006031.6(PCNT):c.1468C>T (p.Gln490Ter)	PCNT (Q490* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 159566	NM_006031.6(PCNT):c.1542C>A (p.Ser514=)	PCNT	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 159567	NM_006031.6(PCNT):c.1616C>T (p.Thr539Ile)	PCNT (T539I +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 436254	NM_006031.6(PCNT):c.1680-2A>G	PCNT	Single nucleotide variant (splice acceptor variant)	Microcephalic osteodysplastic primordial dwarfism type II	GPathogenic
Select item 211844	NM_006031.6(PCNT):c.1714_1717del (p.Lys572fs)	PCNT (K572fs +1 more)	Deletion (frameshift variant)	Microcephalic osteodysplastic primordial dwarfism type II	GPathogenic
Select item 436258	NM_006031.6(PCNT):c.1975dup (p.Asp659fs)	PCNT (D659fs +1 more)	Duplication (frameshift variant)	Microcephalic osteodysplastic primordial dwarfism type II	GPathogenic
Select item 281569	NM_006031.6(PCNT):c.2033A>G (p.Lys678Arg)	PCNT (K678R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 159569	NM_006031.6(PCNT):c.2111G>A (p.Gly704Glu)	PCNT (G704E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 436259	NM_006031.6(PCNT):c.2155-21_2186del	PCNT	Deletion (splice acceptor variant)	Microcephalic osteodysplastic primordial dwarfism type II +1 more	GLikely pathogenic
Select item 340476	NM_006031.6(PCNT):c.2247A>C (p.Glu749Asp)	PCNT (E749D +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder +3 more	GUncertain significance
Select item 436184	NM_006031.6(PCNT):c.2264T>G (p.Met755Arg)	PCNT (M755R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely benign
Select item 138616	NM_006031.6(PCNT):c.2415C>G (p.Ala805=)	PCNT	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 159571	NM_006031.6(PCNT):c.2470C>T (p.Leu824=)	PCNT	Single nucleotide variant (synonymous variant)	Microcephalic osteodysplastic primordial dwarfism type II	GUncertain significance
Select item 436185	NM_006031.6(PCNT):c.2545G>A (p.Gly849Arg)	PCNT (G849R +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GUncertain significance
Select item 159572	NM_006031.6(PCNT):c.2556T>C (p.Ala852=)	PCNT	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 211848	NM_006031.6(PCNT):c.2575G>A (p.Asp859Asn)	PCNT (D859N +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 159574	NM_006031.6(PCNT):c.2610-5C>T	PCNT	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 159575	NM_006031.6(PCNT):c.2635A>G (p.Thr879Ala)	PCNT (T879A +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 159576	NM_006031.6(PCNT):c.2710C>T (p.Leu904Phe)	PCNT (L904F +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II	GUncertain significance
Select item 159577	NM_006031.6(PCNT):c.2714A>G (p.Gln905Arg)	PCNT (Q905R +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 159578	NM_006031.6(PCNT):c.2742A>G (p.Ser914=)	PCNT	Single nucleotide variant (synonymous variant)	Microcephalic osteodysplastic primordial dwarfism type II	GUncertain significance
Select item 211849	NM_006031.6(PCNT):c.2833C>T (p.Arg945Cys)	PCNT (R945C +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder +4 more	GUncertain significance
Select item 211850	NM_006031.6(PCNT):c.2865C>T (p.Ala955=)	PCNT	Single nucleotide variant (synonymous variant)	PCNT-related disorder +3 more	GBenign/Likely benign
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 159580	NM_006031.6(PCNT):c.2984_2994del (p.Ala995fs)	PCNT (A995fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 436261	NM_006031.6(PCNT):c.3058A>T (p.Lys1020Ter)	PCNT (K1020* +1 more)	Single nucleotide variant (nonsense)	Microcephalic osteodysplastic primordial dwarfism type II	GPathogenic
Select item 436188	NM_006031.6(PCNT):c.3061C>T (p.Arg1021Trp)	PCNT (R1021W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 159581	NM_006031.6(PCNT):c.3113T>C (p.Val1038Ala)	PCNT (V1038A +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 159582	NM_006031.6(PCNT):c.3220C>T (p.Arg1074Trp)	PCNT (R1074W +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 159583	NM_006031.6(PCNT):c.3233C>A (p.Ala1078Glu)	PCNT (A1078E +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II	GUncertain significance
Select item 159584	NM_006031.6(PCNT):c.3282G>T (p.Gln1094His)	PCNT (Q1094H +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II	GUncertain significance
Select item 159585	NM_006031.6(PCNT):c.3339T>C (p.Ser1113=)	PCNT	Single nucleotide variant (synonymous variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GBenign
Select item 436262	NM_006031.6(PCNT):c.3443T>C (p.Val1148Ala)	PCNT (V1148A +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 159589	NM_006031.6(PCNT):c.3487C>T (p.Arg1163Cys)	PCNT (R1163C +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 159590	NM_006031.6(PCNT):c.3580G>A (p.Ala1194Thr)	PCNT (A1194T +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 159591	NM_006031.6(PCNT):c.3581C>T (p.Ala1194Val)	PCNT (A1194V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 159592	NM_006031.6(PCNT):c.3615G>A (p.Ala1205=)	PCNT	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 211856	NM_006031.6(PCNT):c.3710A>G (p.His1237Arg)	PCNT (H1237R +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 159593	NM_006031.6(PCNT):c.3748C>T (p.Arg1250Trp)	PCNT (R1250W +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder +3 more	GLikely benign
Select item 436263	NM_006031.6(PCNT):c.3880G>T (p.Glu1294Ter)	PCNT (E1294* +1 more)	Single nucleotide variant (nonsense)	Microcephalic osteodysplastic primordial dwarfism type II	GPathogenic
Select item 159594	NM_006031.6(PCNT):c.3992A>G (p.His1331Arg)	PCNT (H1331R +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II	GUncertain significance
Select item 436192	NM_006031.6(PCNT):c.4078C>T (p.Arg1360Cys)	PCNT (R1360C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 159595	NM_006031.6(PCNT):c.4139C>T (p.Ala1380Val)	PCNT (A1380V +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +3 more	GConflicting classifications of pathogenicity
Select item 211857	NM_006031.6(PCNT):c.4140G>A (p.Ala1380=)	PCNT	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 159596	NM_006031.6(PCNT):c.4175G>A (p.Arg1392Gln)	PCNT (R1392Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 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 specified +3 more	GBenign/Likely benign
Select item 211859	NM_006031.6(PCNT):c.4351C>T (p.Arg1451Cys)	PCNT (R1451C +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 159602	NM_006031.6(PCNT):c.4354G>A (p.Gly1452Arg)	PCNT (G1452R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 159603	NM_006031.6(PCNT):c.4431G>A (p.Gln1477=)	PCNT	Single nucleotide variant (synonymous variant)	PCNT-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 159605	NM_006031.6(PCNT):c.4571C>G (p.Pro1524Arg)	PCNT (P1524R +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +4 more	GConflicting classifications of pathogenicity
Select item 159606	NM_006031.6(PCNT):c.4572G>A (p.Pro1524=)	PCNT	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 159610	NM_006031.6(PCNT):c.4769A>G (p.Asn1590Ser)	PCNT (N1590S +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II	GUncertain significance
Select item 340496	NM_006031.6(PCNT):c.4838C>T (p.Ala1613Val)	PCNT (A1613V +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 159611	NM_006031.6(PCNT):c.4844C>T (p.Thr1615Met)	PCNT (T1615M +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 159612	NM_006031.6(PCNT):c.4910C>T (p.Pro1637Leu)	PCNT (P1637L +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 159613	NM_006031.6(PCNT):c.4915A>G (p.Ile1639Val)	PCNT (I1639V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 211864	NM_006031.6(PCNT):c.4938_4939del (p.Arg1646fs)	PCNT (R1646fs +1 more)	Microsatellite (frameshift variant)	Microcephalic osteodysplastic primordial dwarfism type II	GPathogenic
Select item 159614	NM_006031.6(PCNT):c.4962+10G>A	PCNT	Single nucleotide variant (intron variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GBenign/Likely benign
Select item 159615	NM_006031.6(PCNT):c.5020G>T (p.Glu1674Ter)	PCNT (E1674* +1 more)	Single nucleotide variant (nonsense)	Microcephalic osteodysplastic primordial dwarfism type II	GPathogenic/Likely pathogenic
Select item 159617	NM_006031.6(PCNT):c.5199G>A (p.Lys1733=)	PCNT	Single nucleotide variant (synonymous variant)	Microcephalic osteodysplastic primordial dwarfism type II +3 more	GConflicting classifications of pathogenicity
Select item 138619	NM_006031.6(PCNT):c.5322G>A (p.Glu1774=)	PCNT	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 159618	NM_006031.6(PCNT):c.5347C>T (p.Pro1783Ser)	PCNT (P1783S +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II	GUncertain significance
Select item 159619	NM_006031.6(PCNT):c.5431C>T (p.Arg1811Cys)	PCNT (R1811C +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II	GUncertain significance
Select item 436277	NM_006031.6(PCNT):c.5482G>T (p.Glu1828Ter)	PCNT (E1828* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 95336	NM_006031.6(PCNT):c.5522A>G (p.Asn1841Ser)	PCNT (N1841S +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 138620	NM_006031.6(PCNT):c.5535G>A (p.Arg1845=)	PCNT	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign

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