ClinVar for MedGen (Select 96587) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 585

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068508	NM_006031.6(PCNT):c.1164_1165del (p.Arg388fs)	PCNT (R270fs +1 more)	Microsatellite (frameshift variant)	Microcephalic osteodysplastic primordial dwarfism type II	GPathogenic
Select item 3065676	NM_006031.6(PCNT):c.7585C>T (p.Arg2529Cys)	PCNT (R2411C +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II	GUncertain significance
Select item 2921045	NM_006031.6(PCNT):c.7199G>A (p.Arg2400His)	PCNT (R2282H +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II	GLikely benign
Select item 2723428	NM_006031.6(PCNT):c.597A>T (p.Thr199=)	PCNT	Single nucleotide variant (synonymous variant)	Microcephalic osteodysplastic primordial dwarfism type II +1 more	GLikely benign
Select item 2664204	NM_006031.6(PCNT):c.6024G>C (p.Leu2008Phe)	PCNT (L1890F +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II	GUncertain significance
Select item 2664203	NM_006031.6(PCNT):c.1147G>T (p.Glu383Ter)	PCNT (E265* +1 more)	Single nucleotide variant (nonsense)	Microcephalic osteodysplastic primordial dwarfism type II	GLikely pathogenic
Select item 2663933	NM_006031.6(PCNT):c.5995-2A>C	PCNT	Single nucleotide variant (splice acceptor variant)	Microcephalic osteodysplastic primordial dwarfism type II +1 more	GLikely pathogenic
Select item 2637900	NM_006031.6(PCNT):c.546_547del (p.Gly183fs)	PCNT (G183fs +1 more)	Deletion (frameshift variant)	Microcephalic osteodysplastic primordial dwarfism type II	GLikely pathogenic
Select item 2632116	NM_006031.6(PCNT):c.8906G>A (p.Arg2969Gln)	PCNT (R2772Q +1 more)	Single nucleotide variant (missense variant)	PCNT-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2506994	NM_006031.6(PCNT):c.8018dup (p.Leu2674fs)	PCNT (L2556fs +1 more)	Duplication (frameshift variant)	Microcephalic osteodysplastic primordial dwarfism type II	GLikely pathogenic
Select item 2506993	NM_006031.6(PCNT):c.6564_6565del (p.Met2188fs)	PCNT (M2070fs +1 more)	Deletion (frameshift variant)	Microcephalic osteodysplastic primordial dwarfism type II	GLikely pathogenic
Select item 2506992	NM_006031.6(PCNT):c.2812C>T (p.Gln938Ter)	PCNT (Q820* +1 more)	Single nucleotide variant (nonsense)	Microcephalic osteodysplastic primordial dwarfism type II	GLikely pathogenic
Select item 2506991	NM_006031.6(PCNT):c.6316_6325del (p.Leu2106fs)	PCNT (L1988fs +1 more)	Deletion (frameshift variant)	Microcephalic osteodysplastic primordial dwarfism type II	GLikely pathogenic
Select item 2504589	NM_006031.6(PCNT):c.5905C>T (p.Arg1969Cys)	PCNT (R1851C +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II	GUncertain significance
Select item 2503446	NM_006031.6(PCNT):c.1345-1G>T	PCNT	Single nucleotide variant (splice acceptor variant)	Microcephalic osteodysplastic primordial dwarfism type II	GLikely pathogenic
Select item 2444492	NM_006031.6(PCNT):c.4448_4791+1del	PCNT	Deletion (splice acceptor variant +1 more)	Microcephalic osteodysplastic primordial dwarfism type II	GLikely pathogenic
Select item 2444460	NM_006031.6(PCNT):c.2317G>T (p.Glu773Ter)	PCNT (E655* +1 more)	Single nucleotide variant (nonsense)	Microcephalic osteodysplastic primordial dwarfism type II	GLikely pathogenic
Select item 2443204	NM_006031.6(PCNT):c.8812G>A (p.Val2938Met)	PCNT (V2741M +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II	GUncertain significance
Select item 2434616	NM_006031.6(PCNT):c.9673C>G (p.Leu3225Val)	PCNT (L3028V +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II	GUncertain significance
Select item 2434615	NM_006031.6(PCNT):c.5632G>C (p.Asp1878His)	PCNT (D1760H +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II	GUncertain significance
Select item 2434614	NM_006031.6(PCNT):c.7601A>G (p.Gln2534Arg)	PCNT (Q2416R +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II	GUncertain significance
Select item 2434613	NM_006031.6(PCNT):c.9611T>C (p.Ile3204Thr)	PCNT (I3007T +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II	GUncertain significance
Select item 2434612	NM_006031.6(PCNT):c.8114G>T (p.Cys2705Phe)	PCNT (C2587F +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II	GUncertain significance
Select item 2434611	NM_006031.6(PCNT):c.10000dup (p.Ile3334fs)	PCNT (I3137fs +1 more)	Duplication (frameshift variant)	Microcephalic osteodysplastic primordial dwarfism type II	GUncertain significance
Select item 2432513	NM_006031.6(PCNT):c.3928C>T (p.Gln1310Ter)	PCNT (Q1192* +1 more)	Single nucleotide variant (nonsense)	Microcephalic osteodysplastic primordial dwarfism type II	GLikely pathogenic
Select item 2431033	NM_006031.6(PCNT):c.1334_1335del (p.Lys445fs)	PCNT (K327fs +1 more)	Deletion (frameshift variant)	Microcephalic osteodysplastic primordial dwarfism type II	GLikely pathogenic
Select item 2428708	NM_006031.6(PCNT):c.1971C>T (p.Asp657=)	PCNT	Single nucleotide variant (synonymous variant)	Microcephalic osteodysplastic primordial dwarfism type II +1 more	GLikely benign
Select item 2428508	NM_006031.6(PCNT):c.5505G>A (p.Leu1835=)	PCNT	Single nucleotide variant (synonymous variant)	PCNT-related condition +2 more	GLikely benign
Select item 2425041	NM_006031.6(PCNT):c.8591A>G (p.Glu2864Gly)	PCNT (E2864G)	Single nucleotide variant (missense variant +1 more)	PCNT-related condition +2 more	GUncertain significance
Select item 2402145	NM_006031.6(PCNT):c.9752C>T (p.Pro3251Leu)	PCNT (P3054L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2205195	NM_006031.6(PCNT):c.2062C>T (p.Leu688Phe)	PCNT (L688F +1 more)	Single nucleotide variant (missense variant)	PCNT-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2159552	NM_006031.6(PCNT):c.8182C>T (p.Arg2728Cys)	PCNT (R2610C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2075235	NM_006031.6(PCNT):c.1438A>G (p.Ser480Gly)	PCNT (S362G +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1806717	NM_006031.6(PCNT):c.9393+1G>A	PCNT	Single nucleotide variant (splice donor variant)	Microcephalic osteodysplastic primordial dwarfism type II +1 more	GLikely pathogenic
Select item 1805459	NM_006031.6(PCNT):c.8695C>T (p.Gln2899Ter)	PCNT (Q2899*)	Single nucleotide variant (nonsense +1 more)	Microcephalic osteodysplastic primordial dwarfism type II	GPathogenic
Select item 1679490	NM_006031.6(PCNT):c.7006G>A (p.Ala2336Thr)	PCNT (A2218T +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +1 more	GConflicting classifications of pathogenicity
Select item 1507500	NM_006031.6(PCNT):c.3228G>T (p.Gln1076His)	PCNT (Q1076H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1442485	NM_006031.6(PCNT):c.6458A>G (p.Asn2153Ser)	PCNT (N2035S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1417293	NM_006031.6(PCNT):c.428_466dup (p.Arg143_Gln155dup)	PCNT	Duplication (inframe_insertion)	PCNT-related condition +2 more	GUncertain significance
Select item 1404584	NM_006031.6(PCNT):c.7298C>T (p.Ser2433Leu)	PCNT (S2433L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1402044	NM_006031.6(PCNT):c.7689G>T (p.Gln2563His)	PCNT (Q2445H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1343402	NM_006031.6(PCNT):c.5059_5060del (p.Asn1687fs)	PCNT (N1569fs +1 more)	Deletion (frameshift variant)	Microcephalic osteodysplastic primordial dwarfism type II	GPathogenic
Select item 1338717	NM_006031.6(PCNT):c.7045G>C (p.Ala2349Pro)	PCNT (A2231P +1 more)	Single nucleotide variant (missense variant)	PCNT-related condition +3 more	GConflicting classifications of pathogenicity
Select item 1337232	NM_006031.6(PCNT):c.8835C>T (p.Asp2945=)	PCNT	Single nucleotide variant (synonymous variant)	PCNT-related condition +3 more	GLikely benign
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 1332726	NM_006031.6(PCNT):c.1444C>T (p.Gln482Ter)	PCNT (Q364* +1 more)	Single nucleotide variant (nonsense)	Microcephalic osteodysplastic primordial dwarfism type II	GPathogenic
Select item 1330623	NM_006031.6(PCNT):c.7G>C (p.Val3Leu)	PCNT (V3L)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II	GLikely benign
Select item 1330527	NM_006031.6(PCNT):c.8290G>C (p.Glu2764Gln)	PCNT (E2646Q +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II	GUncertain significance
Select item 1329941	NM_006031.6:c.(6921+1_6922-1)_(7024+1_7025-1)del	PCNT	Deletion	Microcephalic osteodysplastic primordial dwarfism type II	GLikely pathogenic
Select item 1323427	NM_006031.6(PCNT):c.7511del (p.Lys2504fs)	PCNT (K2386fs +1 more)	Deletion (frameshift variant)	Microcephalic osteodysplastic primordial dwarfism type II	GPathogenic
Select item 1323425	NM_006031.6(PCNT):c.9700+1G>A	PCNT	Single nucleotide variant (splice donor variant)	Microcephalic osteodysplastic primordial dwarfism type II	GPathogenic
Select item 1323423	NM_006031.6(PCNT):c.4655C>A (p.Ser1552Ter)	PCNT (S1434* +1 more)	Single nucleotide variant (nonsense)	Microcephalic osteodysplastic primordial dwarfism type II	GPathogenic
Select item 1323422	NM_006031.6(PCNT):c.3465-1G>C	PCNT	Single nucleotide variant (splice acceptor variant)	Microcephalic osteodysplastic primordial dwarfism type II	GPathogenic
Select item 1310795	NM_006031.6(PCNT):c.6884C>T (p.Pro2295Leu)	PCNT (P2177L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1256693	NM_006031.6(PCNT):c.8751+23dup	PCNT	Duplication (intron variant)	Microcephalic osteodysplastic primordial dwarfism type II +1 more	GBenign
Select item 1210337	NM_006031.6(PCNT):c.9417C>G (p.Tyr3139Ter)	PCNT (Y2942* +1 more)	Single nucleotide variant (nonsense)	Microcephalic osteodysplastic primordial dwarfism type II	GLikely pathogenic
Select item 1069878	NM_006031.6(PCNT):c.6412dup (p.Val2138fs)	PCNT (V2020fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1030065	NM_006031.6(PCNT):c.8089C>A (p.Gln2697Lys)	PCNT (Q2697K +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II	GUncertain significance
Select item 1030064	NM_006031.6(PCNT):c.6185C>T (p.Pro2062Leu)	PCNT (P2062L +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II	GUncertain significance
Select item 1030063	NM_006031.6(PCNT):c.4727A>G (p.Lys1576Arg)	PCNT (K1458R +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II	GUncertain significance
Select item 995606	NM_006031.6(PCNT):c.4554C>T (p.Arg1518=)	PCNT	Single nucleotide variant (synonymous variant)	PCNT-related condition +2 more	GLikely benign
Select item 994366	NM_006031.6(PCNT):c.924G>A (p.Glu308=)	PCNT	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 994365	NM_006031.6(PCNT):c.3030G>A (p.Thr1010=)	PCNT	Single nucleotide variant (synonymous variant)	PCNT-related condition +2 more	GLikely benign
Select item 994363	NM_006031.6(PCNT):c.7167G>A (p.Pro2389=)	PCNT	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 994283	NM_006031.6(PCNT):c.1457-12G>A	PCNT	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 994159	NM_006031.6(PCNT):c.1813C>G (p.Leu605Val)	PCNT (L487V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 993566	NM_006031.6(PCNT):c.6800C>T (p.Ser2267Leu)	PCNT (S2149L +1 more)	Single nucleotide variant (missense variant)	PCNT-related condition +3 more	GConflicting classifications of pathogenicity
Select item 993534	NM_006031.6(PCNT):c.8257C>T (p.Arg2753Cys)	PCNT (R2635C +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II	GUncertain significance
Select item 993462	NM_006031.6(PCNT):c.5994+17G>A	PCNT	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 984970	NM_006031.6(PCNT):c.2407C>T (p.Gln803Ter)	PCNT (Q685* +1 more)	Single nucleotide variant (nonsense)	Microcephalic osteodysplastic primordial dwarfism type II	GPathogenic
Select item 983508	NM_006031.6(PCNT):c.5719C>T (p.Gln1907Ter)	PCNT (Q1789* +1 more)	Single nucleotide variant (nonsense)	Microcephalic osteodysplastic primordial dwarfism type II	GPathogenic
Select item 983507	NM_006031.6(PCNT):c.1435del (p.Thr479fs)	PCNT (T361fs +1 more)	Deletion (frameshift variant)	Microcephalic osteodysplastic primordial dwarfism type II	GPathogenic
Select item 983506	NM_006031.6(PCNT):c.8223_8224del (p.Glu2742fs)	PCNT (E2624fs +1 more)	Deletion (frameshift variant)	Microcephalic osteodysplastic primordial dwarfism type II	GPathogenic
Select item 982309	NM_006031.6(PCNT):c.8107C>T (p.Arg2703Ter)	PCNT (R2585* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 982307	NM_006031.6(PCNT):c.4974_4977del (p.Lys1659fs)	PCNT (K1541fs +1 more)	Deletion (frameshift variant)	Microcephalic osteodysplastic primordial dwarfism type II	GPathogenic
Select item 982268	NM_006031.6(PCNT):c.8752-2A>C	PCNT	Single nucleotide variant (splice acceptor variant)	Microcephalic osteodysplastic primordial dwarfism type II	GPathogenic
Select item 977860	NM_006031.6(PCNT):c.3669dup (p.Glu1224Ter)	PCNT (E1106* +1 more)	Duplication (nonsense)	Microcephalic osteodysplastic primordial dwarfism type II	GLikely pathogenic
Select item 977848	NM_006031.6(PCNT):c.5055dup (p.Gln1686fs)	PCNT (Q1568fs +1 more)	Duplication (frameshift variant)	Microcephalic osteodysplastic primordial dwarfism type II	GLikely pathogenic
Select item 977838	NM_006031.6(PCNT):c.1344+2T>C	PCNT	Single nucleotide variant (splice donor variant)	Microcephalic osteodysplastic primordial dwarfism type II	GLikely benign
Select item 976184	NM_006031.6(PCNT):c.5443C>T (p.Gln1815Ter)	PCNT (Q1697* +1 more)	Single nucleotide variant (nonsense)	Microcephalic osteodysplastic primordial dwarfism type II	GLikely pathogenic
Select item 930482	NM_006031.6(PCNT):c.3423del (p.Ser1142fs)	PCNT (S1024fs +1 more)	Deletion (frameshift variant)	Microcephalic osteodysplastic primordial dwarfism type II	GLikely pathogenic
Select item 915399	NM_006031.6(PCNT):c.607del (p.His203fs)	PCNT (H203fs +1 more)	Deletion (frameshift variant)	Microcephalic osteodysplastic primordial dwarfism type II +1 more	GPathogenic/Likely pathogenic
Select item 899366	NM_006031.6(PCNT):c.-33A>G	LOC130066875, PCNT	Single nucleotide variant (5 prime UTR variant)	Microcephalic osteodysplastic primordial dwarfism type II	GUncertain significance
Select item 899072	NM_006031.5(PCNT):c.*451G>A	PCNT	Single nucleotide variant	Microcephalic osteodysplastic primordial dwarfism type II	GUncertain significance
Select item 899071	NM_006031.6(PCNT):c.*318A>G	PCNT	Single nucleotide variant (3 prime UTR variant)	Microcephalic osteodysplastic primordial dwarfism type II	GUncertain significance
Select item 899070	NM_006031.6(PCNT):c.*234C>T	PCNT	Single nucleotide variant (3 prime UTR variant)	Microcephalic osteodysplastic primordial dwarfism type II	GUncertain significance
Select item 899004	NM_006031.6(PCNT):c.9280G>C (p.Glu3094Gln)	PCNT (E2897Q +1 more)	Single nucleotide variant (missense variant)	PCNT-related condition +1 more	GUncertain significance
Select item 899003	NM_006031.6(PCNT):c.9279G>A (p.Ser3093=)	PCNT	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 899002	NM_006031.6(PCNT):c.9278C>T (p.Ser3093Leu)	PCNT (S2896L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 899001	NM_006031.6(PCNT):c.9250C>G (p.Leu3084Val)	PCNT (L2887V +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II	GUncertain significance
Select item 898922	NM_006031.6(PCNT):c.8641C>T (p.Arg2881Trp)	PCNT (R2881W)	Single nucleotide variant (missense variant +1 more)	Microcephalic osteodysplastic primordial dwarfism type II	GUncertain significance
Select item 898864	NM_006031.6(PCNT):c.7699C>T (p.Leu2567=)	PCNT	Single nucleotide variant (synonymous variant)	Microcephalic osteodysplastic primordial dwarfism type II +1 more	GConflicting classifications of pathogenicity
Select item 898863	NM_006031.6(PCNT):c.7690+5G>A	PCNT	Single nucleotide variant (intron variant)	Microcephalic osteodysplastic primordial dwarfism type II	GUncertain significance
Select item 898797	NM_006031.6(PCNT):c.7029C>T (p.Asp2343=)	PCNT	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 898666	NM_006031.6(PCNT):c.5813A>C (p.Gln1938Pro)	PCNT (Q1820P +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II	GUncertain significance
Select item 898611	NM_006031.6(PCNT):c.5105C>T (p.Thr1702Met)	PCNT (T1702M +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +1 more	GUncertain significance
Select item 898610	NM_006031.6(PCNT):c.5039A>C (p.Asn1680Thr)	PCNT (N1680T +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II	GUncertain significance
Select item 898609	NM_006031.6(PCNT):c.4949G>A (p.Arg1650Gln)	PCNT (R1532Q +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II	GUncertain significance
Select item 898542	NM_006031.6(PCNT):c.4222C>T (p.Arg1408Trp)	PCNT (R1290W +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 898471	NM_006031.6(PCNT):c.3221G>A (p.Arg1074Gln)	PCNT (R956Q +1 more)	Single nucleotide variant (missense variant)	PCNT-related condition +2 more	GUncertain significance

<< First< Prev

Page of 6