Related gene-specific medical variations for Gene (Select 5116) - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3062424	GRCh37/hg19 21q22.3(chr21:47809383-47854022)x3	PCNT	Copy number gain	not specified	GUncertain significance
Select item 3047156	NM_001414902.1(LOC128092249):c.143A>G (p.Lys48Arg)	LOC128092249, PCNT (K48R)	Single nucleotide variant (missense variant +2 more)	PCNT-related condition	GLikely benign
Select item 3036344	NM_001414902.1(LOC128092249):c.86G>T (p.Arg29Leu)	LOC128092249, PCNT (R29L)	Single nucleotide variant (missense variant +1 more)	PCNT-related condition	GLikely benign
Select item 3020298	NM_001414902.1(LOC128092249):c.131G>T (p.Arg44Leu)	LOC128092249, PCNT (R44L)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2983008	NM_001414902.1(LOC128092249):c.200G>A (p.Arg67Gln)	LOC128092249, PCNT (R67Q)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2977281	NM_001414902.1(LOC128092249):c.76A>G (p.Thr26Ala)	LOC128092249, PCNT (T26A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2969302	NM_001414902.1(LOC128092249):c.73del (p.Ser25fs)	LOC128092249, PCNT (S25fs)	Deletion (frameshift variant +1 more)	not provided	GLikely benign
Select item 2962500	NM_001414902.1(LOC128092249):c.86G>A (p.Arg29His)	LOC128092249, PCNT (R29H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2958761	NM_001414902.1(LOC128092249):c.149G>A (p.Arg50Gln)	LOC128092249, PCNT (R50Q)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2904440	NM_001414902.1(LOC128092249):c.179G>A (p.Arg60His)	LOC128092249, PCNT (R60H)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2887366	NM_001414902.1(LOC128092249):c.164C>T (p.Ala55Val)	LOC128092249, PCNT (A55V)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2882544	NM_001414902.1(LOC128092249):c.179G>T (p.Arg60Leu)	LOC128092249, PCNT (R60L)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2880452	NM_001414902.1(LOC128092249):c.167G>C (p.Arg56Pro)	LOC128092249, PCNT (R56P)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2876449	NM_001414902.1(LOC128092249):c.73T>A (p.Ser25Thr)	LOC128092249, PCNT (S25T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2874541	NM_001414902.1(LOC128092249):c.152G>A (p.Arg51Gln)	LOC128092249, PCNT (R51Q)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2873056	NM_001414902.1(LOC128092249):c.72A>G (p.Leu24=)	LOC128092249, PCNT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2834496	NM_001414902.1(LOC128092249):c.83T>G (p.Leu28Trp)	LOC128092249, PCNT (L28W)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2832564	NM_001414902.1(LOC128092249):c.98C>T (p.Thr33Ile)	LOC128092249, PCNT (T33I)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2829463	NM_001414902.1(LOC128092249):c.75T>C (p.Ser25=)	LOC128092249, PCNT	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2826894	NM_001414902.1(LOC128092249):c.188G>A (p.Arg63Lys)	LOC128092249, PCNT (R63K)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2799656	NM_001414902.1(LOC128092249):c.179G>C (p.Arg60Pro)	LOC128092249, PCNT (R60P)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2788694	NM_001414902.1(LOC128092249):c.77C>T (p.Thr26Ile)	LOC128092249, PCNT (T26I)	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2767584	NM_001414902.1(LOC128092249):c.71T>A (p.Leu24Ter)	LOC128092249, PCNT (L24*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely benign
Select item 2701086	NM_001414902.1(LOC128092249):c.197T>C (p.Val66Ala)	LOC128092249, PCNT (V66A)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
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 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 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 2116128	NM_001414902.1(LOC128092249):c.196G>A (p.Val66Ile)	LOC128092249, PCNT (V66I +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2108844	NM_001414902.1(LOC128092249):c.178_181dup (p.Leu61Profs)	LOC128092249, PCNT (Q51fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 1978126	NM_001414902.1(LOC128092249):c.137G>C (p.Arg46Pro)	PCNT, LOC128092249 (R46P)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1900559	NM_001414902.1(LOC128092249):c.185C>G (p.Ser62Cys)	LOC128092249, PCNT (S62C)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1512520	NM_006031.6(PCNT):c.91A>G (p.Ser31Gly)	LOC128092249, PCNT (S31G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
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 1276503	NM_006031.6(PCNT):c.54+287_54+288insTG	LOC130066876, PCNT	Insertion (intron variant)	not provided	GBenign
Select item 1247194	NM_006031.6(PCNT):c.54+271_54+275dup	LOC130066876, PCNT	Duplication (intron variant)	not provided	GBenign
Select item 1228060	NM_006031.6(PCNT):c.54+286_54+287insT	LOC130066876, PCNT	Insertion (intron variant)	not provided	GBenign
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 974745	NM_006031.6(PCNT):c.4585-26_7180-1125del	PCNT	Deletion (splice acceptor variant +1 more)	Megacolon	GUncertain significance
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 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 895263	NM_006031.6(PCNT):c.71A>G (p.Gln24Arg)	LOC128092249, PCNT (Q24R)	Single nucleotide variant (5 prime UTR variant +1 more)	PCNT-related condition +2 more	GUncertain significance
Select item 813634	NM_006031.6(PCNT):c.6208G>A (p.Val2070Met)	PCNT (V1952M +1 more)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 809311	NM_006031.6(PCNT):c.6353A>G (p.Glu2118Gly)	PCNT (E2000G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 809310	NM_006031.6(PCNT):c.1069T>C (p.Cys357Arg)	PCNT (C239R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 725654	NM_006031.6(PCNT):c.90C>T (p.Asp30=)	LOC128092249, PCNT	Single nucleotide variant (5 prime UTR variant +1 more)	PCNT-related condition +1 more	GLikely benign
Select item 669290	NM_006031.6(PCNT):c.-15C>G	LOC130066875, PCNT	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
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)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GUncertain significance
Select item 340458	NM_006031.6(PCNT):c.-25G>C	LOC130066875, PCNT	Single nucleotide variant (5 prime UTR variant)	Microcephalic osteodysplastic primordial dwarfism type II	GLikely benign
Select item 340457	NM_006031.6(PCNT):c.-35T>A	PCNT, LOC130066875	Single nucleotide variant (5 prime UTR variant)	Microcephalic osteodysplastic primordial dwarfism type II	GUncertain significance
Select item 211842	NM_006031.6(PCNT):c.142G>C (p.Ala48Pro)	LOC128092249, PCNT (A48P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 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 138617	NM_006031.6(PCNT):c.-16G>T	LOC130066875, PCNT	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
Select item 100853	NM_006031.6(PCNT):c.2167C>G (p.Leu723Val)	PCNT (L723V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 4709	PCNT, 486-BP DEL, NT84	PCNT	Deletion	Microcephalic osteodysplastic primordial dwarfism type II	GPathogenic

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Items: 70