ClinVar for MedGen (Select 96587) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24444921.	NM_006031.6(PCNT):c.4448_4791+1del GRCh37: Chr21:47817925-47819707 GRCh38: Chr21:46398011-46399793	PCNT		Microcephalic osteodysplastic primordial dwarfism type II	Likely pathogenic (Mar 14, 2023)	criteria provided, single submitter
Select item 24444602.	NM_006031.6(PCNT):c.2317G>T (p.Glu773Ter) GRCh37: Chr21:47783557 GRCh38: Chr21:46363642	PCNT	E655, E773	Microcephalic osteodysplastic primordial dwarfism type II	Likely pathogenic	no assertion criteria provided
Select item 24346163.	NM_006031.6(PCNT):c.9673C>G (p.Leu3225Val) GRCh37: Chr21:47862459 GRCh38: Chr21:46442546	PCNT	L3028V, L3225V	Microcephalic osteodysplastic primordial dwarfism type II	Uncertain significance (Jan 22, 2021)	criteria provided, single submitter
Select item 24346154.	NM_006031.6(PCNT):c.5632G>C (p.Asp1878His) GRCh37: Chr21:47831619 GRCh38: Chr21:46411705	PCNT	D1760H, D1878H	Microcephalic osteodysplastic primordial dwarfism type II	Uncertain significance (Jun 12, 2021)	criteria provided, single submitter
Select item 24346145.	NM_006031.6(PCNT):c.7601A>G (p.Gln2534Arg) GRCh37: Chr21:47848415 GRCh38: Chr21:46428501	PCNT	Q2416R, Q2534R	Microcephalic osteodysplastic primordial dwarfism type II	Uncertain significance (May 31, 2021)	criteria provided, single submitter
Select item 24346136.	NM_006031.6(PCNT):c.9611T>C (p.Ile3204Thr) GRCh37: Chr21:47860985 GRCh38: Chr21:46441072	PCNT	I3007T, I3204T	Microcephalic osteodysplastic primordial dwarfism type II	Uncertain significance (Mar 18, 2021)	criteria provided, single submitter
Select item 24346127.	NM_006031.6(PCNT):c.8114G>T (p.Cys2705Phe) GRCh37: Chr21:47851492 GRCh38: Chr21:46431578	PCNT	C2587F, C2705F	Microcephalic osteodysplastic primordial dwarfism type II	Uncertain significance (Sep 16, 2022)	criteria provided, single submitter
Select item 24346118.	NM_006031.6(PCNT):c.10000dup (p.Ile3334fs) GRCh37: Chr21:47865228-47865229 GRCh38: Chr21:46445315-46445316	PCNT	I3137fs, I3334fs	Microcephalic osteodysplastic primordial dwarfism type II	Uncertain significance (Dec 8, 2020)	criteria provided, single submitter
Select item 24325139.	NM_006031.6(PCNT):c.3928C>T (p.Gln1310Ter) GRCh37: Chr21:47810672 GRCh38: Chr21:46390757	PCNT	Q1192, Q1310	Microcephalic osteodysplastic primordial dwarfism type II	Likely pathogenic (Dec 15, 2021)	criteria provided, single submitter
Select item 243103310.	NM_006031.6(PCNT):c.1334_1335del (p.Lys445fs) GRCh37: Chr21:47769721-47769722 GRCh38: Chr21:46349807-46349808	PCNT	K327fs, K445fs	Microcephalic osteodysplastic primordial dwarfism type II	Likely pathogenic (Mar 1, 2023)	criteria provided, single submitter
Select item 242870811.	NM_006031.6(PCNT):c.1971C>T (p.Asp657_Gly658=) GRCh37: Chr21:47776923 GRCh38: Chr21:46357008	PCNT		Microcephalic osteodysplastic primordial dwarfism type II	Likely benign (Jun 24, 2022)	criteria provided, single submitter
Select item 242850812.	NM_006031.6(PCNT):c.5505G>A (p.Leu1835_Ala1836=) GRCh37: Chr21:47831492 GRCh38: Chr21:46411578	PCNT		Microcephalic osteodysplastic primordial dwarfism type II	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 242504113.	NM_006031.6(PCNT):c.8591A>G (p.Glu2864Gly) GRCh37: Chr21:47851969 GRCh38: Chr21:46432055	PCNT	E2864G	Microcephalic osteodysplastic primordial dwarfism type II, not provided	Uncertain significance (Feb 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 220519514.	NM_006031.6(PCNT):c.2062C>T (p.Leu688Phe) GRCh37: Chr21:47777014 GRCh38: Chr21:46357099	PCNT	L688F, L570F	Inborn genetic diseases, Microcephalic osteodysplastic primordial dwarfism type II	Conflicting interpretations of pathogenicity (Apr 8, 2022)	criteria provided, conflicting interpretations
Select item 180545915.	NM_006031.6(PCNT):c.8695C>T (p.Gln2899Ter) GRCh37: Chr21:47852073 GRCh38: Chr21:46432159	PCNT	Q2899*	Microcephalic osteodysplastic primordial dwarfism type II	Pathogenic (Jun 11, 2020)	criteria provided, single submitter
Select item 167949016.	NM_006031.6(PCNT):c.7006G>A (p.Ala2336Thr) GRCh37: Chr21:47838202 GRCh38: Chr21:46418288	PCNT	A2218T, A2336T	Microcephalic osteodysplastic primordial dwarfism type II	Likely benign (Feb 11, 2022)	criteria provided, single submitter
Select item 150750017.	NM_006031.6(PCNT):c.3228G>T (p.Gln1076His) GRCh37: Chr21:47801671 GRCh38: Chr21:46381756	PCNT	Q1076H, Q958H	Microcephalic osteodysplastic primordial dwarfism type II, not provided	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140458418.	NM_006031.6(PCNT):c.7298C>T (p.Ser2433Leu) GRCh37: Chr21:47845863 GRCh38: Chr21:46425949	PCNT	S2433L, S2315L	Microcephalic osteodysplastic primordial dwarfism type II, not provided	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140204419.	NM_006031.6(PCNT):c.7689G>T (p.Gln2563His) GRCh37: Chr21:47848503 GRCh38: Chr21:46428589	PCNT	Q2445H, Q2563H	Microcephalic osteodysplastic primordial dwarfism type II, not provided	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134340220.	NM_006031.6(PCNT):c.5059_5060del (p.Asn1687fs) GRCh37: Chr21:47822341-47822342 GRCh38: Chr21:46402427-46402428	PCNT	N1569fs, N1687fs	Microcephalic osteodysplastic primordial dwarfism type II	Pathogenic (Feb 3, 2021)	criteria provided, single submitter
Select item 133871721.	NM_006031.6(PCNT):c.7045G>C (p.Ala2349Pro) GRCh37: Chr21:47841904 GRCh38: Chr21:46421990	PCNT	A2231P, A2349P	not provided, not specified, Microcephalic osteodysplastic primordial dwarfism type II	Uncertain significance (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133723222.	NM_006031.6(PCNT):c.8835C>T (p.Asp2945=) GRCh37: Chr21:47855900 GRCh38: Chr21:46435987	PCNT		Microcephalic osteodysplastic primordial dwarfism type II, not specified	Likely benign (Aug 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 133645423.	NM_006031.6(PCNT):c.979G>C (p.Glu327Gln) GRCh37: Chr21:47767373 GRCh38: Chr21:46347459	PCNT	E209Q, E327Q	not specified, Microcephalic osteodysplastic primordial dwarfism type II, not provided	Conflicting interpretations of pathogenicity (Sep 6, 2022)	criteria provided, conflicting interpretations
Select item 133272624.	NM_006031.6(PCNT):c.1444C>T (p.Gln482Ter) GRCh37: Chr21:47771442 GRCh38: Chr21:46351528	PCNT	Q364, Q482	Microcephalic osteodysplastic primordial dwarfism type II	Pathogenic	criteria provided, single submitter
Select item 133062325.	NM_006031.6(PCNT):c.7G>C (p.Val3Leu) GRCh37: Chr21:47744149 GRCh38: Chr21:46324235	PCNT	V3L	Microcephalic osteodysplastic primordial dwarfism type II	Likely benign (Apr 28, 2021)	criteria provided, single submitter
Select item 133052726.	NM_006031.6(PCNT):c.8290G>C (p.Glu2764Gln) GRCh37: Chr21:47851668 GRCh38: Chr21:46431754	PCNT	E2646Q, E2764Q	Microcephalic osteodysplastic primordial dwarfism type II	Uncertain significance (Mar 16, 2021)	criteria provided, single submitter
Select item 132994127.	NM_006031.6:c.(6921+1_6922-1)_(7024+1_7025-1)del	PCNT		Microcephalic osteodysplastic primordial dwarfism type II	Likely pathogenic (Dec 3, 2021)	criteria provided, single submitter
Select item 132342728.	NM_006031.6(PCNT):c.7511del (p.Lys2504fs) GRCh37: Chr21:47848322 GRCh38: Chr21:46428408	PCNT	K2386fs, K2504fs	Microcephalic osteodysplastic primordial dwarfism type II	Pathogenic (Mar 20, 2020)	criteria provided, single submitter
Select item 132342529.	NM_006031.6(PCNT):c.9700+1G>A GRCh37: Chr21:47862487 GRCh38: Chr21:46442574	PCNT		Microcephalic osteodysplastic primordial dwarfism type II	Pathogenic (Dec 28, 2019)	criteria provided, single submitter
Select item 132342330.	NM_006031.6(PCNT):c.4655C>A (p.Ser1552Ter) GRCh37: Chr21:47819574 GRCh38: Chr21:46399660	PCNT	S1434, S1552	Microcephalic osteodysplastic primordial dwarfism type II	Pathogenic (Aug 3, 2021)	criteria provided, single submitter
Select item 132342231.	NM_006031.6(PCNT):c.3465-1G>C GRCh37: Chr21:47808656 GRCh38: Chr21:46388741	PCNT		Microcephalic osteodysplastic primordial dwarfism type II	Pathogenic (Jan 29, 2021)	criteria provided, single submitter
Select item 131079532.	NM_006031.6(PCNT):c.6884C>T (p.Pro2295Leu) GRCh37: Chr21:47836716 GRCh38: Chr21:46416802	PCNT	P2177L, P2295L	not provided, Microcephalic osteodysplastic primordial dwarfism type II	Uncertain significance (Aug 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 125669333.	NM_006031.6(PCNT):c.8751+23dup GRCh38: Chr21:46432237-46432238	PCNT		Microcephalic osteodysplastic primordial dwarfism type II, not provided	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 121033734.	NM_006031.6(PCNT):c.9417C>G (p.Tyr3139Ter) GRCh37: Chr21:47860791 GRCh38: Chr21:46440878	PCNT	Y2942, Y3139	Microcephalic osteodysplastic primordial dwarfism type II	Likely pathogenic (Jul 22, 2021)	criteria provided, single submitter
Select item 106987835.	NM_006031.6(PCNT):c.6412dup (p.Val2138fs) GRCh37: Chr21:47836243-47836244 GRCh38: Chr21:46416329-46416330	PCNT	V2020fs, V2138fs	not provided, Microcephalic osteodysplastic primordial dwarfism type II	Pathogenic/Likely pathogenic (Mar 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106720836.	NM_006031.6(PCNT):c.4447-2A>G GRCh37: Chr21:47817926 GRCh38: Chr21:46398012	PCNT		not provided	Likely pathogenic (Jul 12, 2022)	criteria provided, single submitter
Select item 103006537.	NM_006031.6(PCNT):c.8089C>A (p.Gln2697Lys) GRCh37: Chr21:47851467 GRCh38: Chr21:46431553	PCNT	Q2697K, Q2579K	Microcephalic osteodysplastic primordial dwarfism type II	Uncertain significance (Sep 5, 2019)	criteria provided, single submitter
Select item 103006438.	NM_006031.6(PCNT):c.6185C>T (p.Pro2062Leu) GRCh37: Chr21:47836017 GRCh38: Chr21:46416103	PCNT	P2062L, P1944L	Microcephalic osteodysplastic primordial dwarfism type II	Uncertain significance (Jun 19, 2020)	criteria provided, single submitter
Select item 103006339.	NM_006031.6(PCNT):c.4727A>G (p.Lys1576Arg) GRCh37: Chr21:47819646 GRCh38: Chr21:46399732	PCNT	K1458R, K1576R	Microcephalic osteodysplastic primordial dwarfism type II	Uncertain significance (Nov 15, 2019)	criteria provided, single submitter
Select item 99560640.	NM_006031.6(PCNT):c.4554C>T (p.Arg1518=) GRCh37: Chr21:47818035 GRCh38: Chr21:46398121	PCNT		not provided, Microcephalic osteodysplastic primordial dwarfism type II	Likely benign (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99436641.	NM_006031.6(PCNT):c.924G>A (p.Glu308=) GRCh37: Chr21:47766860 GRCh38: Chr21:46346946	PCNT		Microcephalic osteodysplastic primordial dwarfism type II	Likely benign (Jul 2, 2020)	criteria provided, single submitter
Select item 99436542.	NM_006031.6(PCNT):c.3030G>A (p.Thr1010=) GRCh37: Chr21:47786919 GRCh38: Chr21:46367004	PCNT		Microcephalic osteodysplastic primordial dwarfism type II	Likely benign (Jul 2, 2020)	criteria provided, single submitter
Select item 99436343.	NM_006031.6(PCNT):c.7167G>A (p.Pro2389=) GRCh37: Chr21:47842026 GRCh38: Chr21:46422112	PCNT		Microcephalic osteodysplastic primordial dwarfism type II	Likely benign (Jul 2, 2020)	criteria provided, single submitter
Select item 99428344.	NM_006031.6(PCNT):c.1457-12G>A GRCh37: Chr21:47773006 GRCh38: Chr21:46353092	PCNT		not provided, Microcephalic osteodysplastic primordial dwarfism type II	Likely benign (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99415945.	NM_006031.6(PCNT):c.1813C>G (p.Leu605Val) GRCh37: Chr21:47775418 GRCh38: Chr21:46355503	PCNT	L487V, L605V	not provided, Microcephalic osteodysplastic primordial dwarfism type II	Uncertain significance (Aug 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99356646.	NM_006031.6(PCNT):c.6800C>T (p.Ser2267Leu) GRCh37: Chr21:47836632 GRCh38: Chr21:46416718	PCNT	S2149L, S2267L	Inborn genetic diseases, Microcephalic osteodysplastic primordial dwarfism type II, not provided	Uncertain significance (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99353447.	NM_006031.6(PCNT):c.8257C>T (p.Arg2753Cys) GRCh37: Chr21:47851635 GRCh38: Chr21:46431721	PCNT	R2635C, R2753C	Microcephalic osteodysplastic primordial dwarfism type II	Uncertain significance (May 15, 2020)	criteria provided, single submitter
Select item 99346248.	NM_006031.6(PCNT):c.5994+17G>A GRCh37: Chr21:47831998 GRCh38: Chr21:46412084	PCNT		not provided, Microcephalic osteodysplastic primordial dwarfism type II	Likely benign (Nov 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 98497049.	NM_006031.6(PCNT):c.2407C>T (p.Gln803Ter) GRCh37: Chr21:47783647 GRCh38: Chr21:46363732	PCNT	Q685, Q803	Microcephalic osteodysplastic primordial dwarfism type II	Pathogenic (Apr 10, 2020)	criteria provided, single submitter
Select item 98350850.	NM_006031.6(PCNT):c.5719C>T (p.Gln1907Ter) GRCh37: Chr21:47831706 GRCh38: Chr21:46411792	PCNT	Q1789, Q1907	Microcephalic osteodysplastic primordial dwarfism type II	Pathogenic (Oct 27, 2020)	criteria provided, single submitter
Select item 98350751.	NM_006031.6(PCNT):c.1435del (p.Thr479fs) GRCh37: Chr21:47771433 GRCh38: Chr21:46351519	PCNT	T361fs, T479fs	Microcephalic osteodysplastic primordial dwarfism type II	Pathogenic (Oct 27, 2020)	criteria provided, single submitter
Select item 98350652.	NM_006031.6(PCNT):c.8223_8224del (p.Glu2742fs) GRCh37: Chr21:47851601-47851602 GRCh38: Chr21:46431687-46431688	PCNT	E2624fs, E2742fs	Microcephalic osteodysplastic primordial dwarfism type II	Pathogenic (Oct 27, 2020)	criteria provided, single submitter
Select item 98230953.	NM_006031.6(PCNT):c.8107C>T (p.Arg2703Ter) GRCh37: Chr21:47851485 GRCh38: Chr21:46431571	PCNT	R2585, R2703	Microcephalic osteodysplastic primordial dwarfism type II	Pathogenic	criteria provided, single submitter
Select item 98230754.	NM_006031.6(PCNT):c.4974_4977del (p.Lys1659fs) GRCh37: Chr21:47822256-47822259 GRCh38: Chr21:46402342-46402345	PCNT	K1541fs, K1659fs	Microcephalic osteodysplastic primordial dwarfism type II	Pathogenic	criteria provided, single submitter
Select item 98226855.	NM_006031.6(PCNT):c.8752-2A>C GRCh37: Chr21:47855815 GRCh38: Chr21:46435902	PCNT		Microcephalic osteodysplastic primordial dwarfism type II	Pathogenic	criteria provided, single submitter
Select item 97786056.	NM_006031.6(PCNT):c.3669dup (p.Glu1224Ter) GRCh37: Chr21:47809174-47809175 GRCh38: Chr21:46389259-46389260	PCNT	E1106, E1224	Microcephalic osteodysplastic primordial dwarfism type II	Likely pathogenic	no assertion criteria provided
Select item 97784857.	NM_006031.6(PCNT):c.5055dup (p.Gln1686fs) GRCh37: Chr21:47822336-47822337 GRCh38: Chr21:46402422-46402423	PCNT	Q1568fs, Q1686fs	Microcephalic osteodysplastic primordial dwarfism type II	Likely pathogenic	no assertion criteria provided
Select item 97783858.	NM_006031.6(PCNT):c.1344+2T>C GRCh37: Chr21:47769736 GRCh38: Chr21:46349822	PCNT		Microcephalic osteodysplastic primordial dwarfism type II	Likely benign	no assertion criteria provided
Select item 97618459.	NM_006031.6(PCNT):c.5443C>T (p.Gln1815Ter) GRCh37: Chr21:47831430 GRCh38: Chr21:46411516	PCNT	Q1697, Q1815	Microcephalic osteodysplastic primordial dwarfism type II	Likely pathogenic (Mar 8, 2018)	criteria provided, single submitter
Select item 93048260.	NM_006031.6(PCNT):c.3423del (p.Ser1142fs) GRCh37: Chr21:47805857 GRCh38: Chr21:46385942	PCNT	S1024fs, S1142fs	Microcephalic osteodysplastic primordial dwarfism type II	Likely pathogenic (Oct 1, 2019)	criteria provided, single submitter
Select item 91539961.	NM_006031.6(PCNT):c.607del (p.His203fs) GRCh37: Chr21:47754649 GRCh38: Chr21:46334735	PCNT	H203fs, H85fs	Microcephalic osteodysplastic primordial dwarfism type II	Likely pathogenic (May 3, 2020)	criteria provided, single submitter
Select item 89936662.	NM_006031.6(PCNT):c.-33A>G GRCh37: Chr21:47744110 GRCh38: Chr21:46324196	PCNT		Microcephalic osteodysplastic primordial dwarfism type II	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89907263.	NM_006031.5(PCNT):c.*451G>A GRCh37: Chr21:47865691 GRCh38: Chr21:46445778	PCNT		Microcephalic osteodysplastic primordial dwarfism type II	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89907164.	NM_006031.6(PCNT):c.*318A>G GRCh37: Chr21:47865558 GRCh38: Chr21:46445645	PCNT		Microcephalic osteodysplastic primordial dwarfism type II	Uncertain significance (Mar 2, 2018)	criteria provided, single submitter
Select item 89907065.	NM_006031.6(PCNT):c.*234C>T GRCh37: Chr21:47865474 GRCh38: Chr21:46445561	PCNT		Microcephalic osteodysplastic primordial dwarfism type II	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89900466.	NM_006031.6(PCNT):c.9280G>C (p.Glu3094Gln) GRCh37: Chr21:47860002 GRCh38: Chr21:46440089	PCNT	E2897Q, E3094Q	Microcephalic osteodysplastic primordial dwarfism type II	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89900367.	NM_006031.6(PCNT):c.9279G>A (p.Ser3093=) GRCh37: Chr21:47860001 GRCh38: Chr21:46440088	PCNT		not provided, Microcephalic osteodysplastic primordial dwarfism type II	Benign/Likely benign (Jun 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89900268.	NM_006031.6(PCNT):c.9278C>T (p.Ser3093Leu) GRCh37: Chr21:47860000 GRCh38: Chr21:46440087	PCNT	S2896L, S3093L	Microcephalic osteodysplastic primordial dwarfism type II	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89900169.	NM_006031.6(PCNT):c.9250C>G (p.Leu3084Val) GRCh37: Chr21:47858227 GRCh38: Chr21:46438314	PCNT	L2887V, L3084V	Microcephalic osteodysplastic primordial dwarfism type II	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89892270.	NM_006031.6(PCNT):c.8641C>T (p.Arg2881Trp) GRCh37: Chr21:47852019 GRCh38: Chr21:46432105	PCNT	R2881W	Microcephalic osteodysplastic primordial dwarfism type II	Uncertain significance (Oct 4, 2017)	criteria provided, single submitter
Select item 89886471.	NM_006031.6(PCNT):c.7699C>T (p.Leu2567=) GRCh37: Chr21:47849932 GRCh38: Chr21:46430018	PCNT		Microcephalic osteodysplastic primordial dwarfism type II	Uncertain significance (Mar 2, 2018)	criteria provided, single submitter
Select item 89886372.	NM_006031.6(PCNT):c.7690+5G>A GRCh37: Chr21:47848509 GRCh38: Chr21:46428595	PCNT		Microcephalic osteodysplastic primordial dwarfism type II	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89879773.	NM_006031.6(PCNT):c.7029C>T (p.Asp2343=) GRCh37: Chr21:47841888 GRCh38: Chr21:46421974	PCNT		not provided, Microcephalic osteodysplastic primordial dwarfism type II	Conflicting interpretations of pathogenicity (May 16, 2021)	criteria provided, conflicting interpretations
Select item 89866674.	NM_006031.6(PCNT):c.5813A>C (p.Gln1938Pro) GRCh37: Chr21:47831800 GRCh38: Chr21:46411886	PCNT	Q1820P, Q1938P	Microcephalic osteodysplastic primordial dwarfism type II	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89861175.	NM_006031.6(PCNT):c.5105C>T (p.Thr1702Met) GRCh37: Chr21:47822387 GRCh38: Chr21:46402473	PCNT	T1702M, T1584M	Microcephalic osteodysplastic primordial dwarfism type II	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89861076.	NM_006031.6(PCNT):c.5039A>C (p.Asn1680Thr) GRCh37: Chr21:47822321 GRCh38: Chr21:46402407	PCNT	N1680T, N1562T	Microcephalic osteodysplastic primordial dwarfism type II	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89860977.	NM_006031.6(PCNT):c.4949G>A (p.Arg1650Gln) GRCh37: Chr21:47821622 GRCh38: Chr21:46401708	PCNT	R1532Q, R1650Q	Microcephalic osteodysplastic primordial dwarfism type II	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89854278.	NM_006031.6(PCNT):c.4222C>T (p.Arg1408Trp) GRCh37: Chr21:47817184 GRCh38: Chr21:46397270	PCNT	R1290W, R1408W	Inborn genetic diseases, not provided, Microcephalic osteodysplastic primordial dwarfism type II	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89847179.	NM_006031.6(PCNT):c.3221G>A (p.Arg1074Gln) GRCh37: Chr21:47801664 GRCh38: Chr21:46381749	PCNT	R956Q, R1074Q	Microcephalic osteodysplastic primordial dwarfism type II, not provided	Uncertain significance (Sep 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 89847080.	NM_006031.6(PCNT):c.3092G>A (p.Arg1031Gln) GRCh37: Chr21:47786981 GRCh38: Chr21:46367066	PCNT	R1031Q, R913Q	Microcephalic osteodysplastic primordial dwarfism type II	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89840581.	NM_006031.6(PCNT):c.2154+7C>A GRCh37: Chr21:47777113 GRCh38: Chr21:46357198	PCNT		Microcephalic osteodysplastic primordial dwarfism type II	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89840482.	NM_006031.6(PCNT):c.1761+13G>A GRCh37: Chr21:47773995 GRCh38: Chr21:46354081	PCNT		Microcephalic osteodysplastic primordial dwarfism type II, not provided	Conflicting interpretations of pathogenicity (Jul 25, 2022)	criteria provided, conflicting interpretations
Select item 89832083.	NM_006031.6(PCNT):c.862C>T (p.Arg288Cys) GRCh37: Chr21:47766798 GRCh38: Chr21:46346884	PCNT	R170C, R288C	Microcephalic osteodysplastic primordial dwarfism type II	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89831984.	NM_006031.6(PCNT):c.623G>A (p.Arg208His) GRCh37: Chr21:47754666 GRCh38: Chr21:46334752	PCNT	R208H, R90H	Microcephalic osteodysplastic primordial dwarfism type II, not provided	Uncertain significance (Jul 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89793685.	NM_006031.6(PCNT):c.*225G>A GRCh37: Chr21:47865465 GRCh38: Chr21:46445552	PCNT		Microcephalic osteodysplastic primordial dwarfism type II	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89793586.	NM_006031.6(PCNT):c.*221C>G GRCh37: Chr21:47865461 GRCh38: Chr21:46445548	PCNT		Microcephalic osteodysplastic primordial dwarfism type II	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89793487.	NM_006031.6(PCNT):c.*179G>A GRCh37: Chr21:47865419 GRCh38: Chr21:46445506	PCNT		Microcephalic osteodysplastic primordial dwarfism type II	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89793388.	NM_006031.6(PCNT):c.*126A>G GRCh37: Chr21:47865366 GRCh38: Chr21:46445453	PCNT		Microcephalic osteodysplastic primordial dwarfism type II	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89793289.	NM_006031.6(PCNT):c.*110G>A GRCh37: Chr21:47865350 GRCh38: Chr21:46445437	PCNT		Microcephalic osteodysplastic primordial dwarfism type II	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89785290.	NM_006031.6(PCNT):c.9235T>C (p.Leu3079=) GRCh37: Chr21:47858212 GRCh38: Chr21:46438299	PCNT		not provided, Microcephalic osteodysplastic primordial dwarfism type II	Conflicting interpretations of pathogenicity (Apr 23, 2022)	criteria provided, conflicting interpretations
Select item 89785191.	NM_006031.6(PCNT):c.9099+13C>T GRCh37: Chr21:47857007 GRCh38: Chr21:46437094	PCNT		not provided, Microcephalic osteodysplastic primordial dwarfism type II	Conflicting interpretations of pathogenicity (Oct 2, 2022)	criteria provided, conflicting interpretations
Select item 89785092.	NM_006031.6(PCNT):c.9099+12G>A GRCh37: Chr21:47857006 GRCh38: Chr21:46437093	PCNT		not provided, Microcephalic osteodysplastic primordial dwarfism type II	Benign/Likely benign (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts

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