"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

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Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1417293	NM_006031.6(PCNT):c.428_466dup (p.Arg143_Gln155dup)	PCNT	Duplication (inframe_insertion)	Microcephalic osteodysplastic primordial dwarfism type II +1 more	GUncertain significance
Select item 211862	NM_006031.6(PCNT):c.467_505dup (p.His156_Gln168dup)	PCNT	Duplication (inframe_insertion)	not provided +2 more	GBenign/Likely benign
Select item 2723428	NM_006031.6(PCNT):c.597A>T (p.Thr199=)	PCNT	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 397627	NM_006031.6(PCNT):c.644G>A (p.Cys215Tyr)	PCNT (C215Y +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 994366	NM_006031.6(PCNT):c.924G>A (p.Glu308=)	PCNT	Single nucleotide variant (synonymous variant)	Microcephalic osteodysplastic primordial dwarfism type II +1 more	GLikely benign
Select item 895342	NM_006031.6(PCNT):c.1083A>G (p.Leu361=)	PCNT	Single nucleotide variant (synonymous variant)	Microcephalic osteodysplastic primordial dwarfism type II +1 more	GConflicting classifications of pathogenicity
Select item 340468	NM_006031.6(PCNT):c.1155A>G (p.Ala385=)	PCNT	Single nucleotide variant (synonymous variant)	Microcephalic osteodysplastic primordial dwarfism type II +1 more	GConflicting classifications of pathogenicity
Select item 436178	NM_006031.6(PCNT):c.1335A>G (p.Lys445=)	PCNT	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2075235	NM_006031.6(PCNT):c.1438A>G (p.Ser480Gly)	PCNT (S362G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 994283	NM_006031.6(PCNT):c.1457-12G>A	PCNT	Single nucleotide variant (intron variant)	Microcephalic osteodysplastic primordial dwarfism type II +1 more	GLikely benign
Select item 385865	NM_006031.6(PCNT):c.1519C>G (p.Arg507Gly)	PCNT (R507G +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GLikely benign
Select item 340473	NM_006031.6(PCNT):c.1784C>T (p.Ala595Val)	PCNT (A595V +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +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)	Microcephalic osteodysplastic primordial dwarfism type II +1 more	GUncertain significance
Select item 2428708	NM_006031.6(PCNT):c.1971C>T (p.Asp657=)	PCNT	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2205195	NM_006031.6(PCNT):c.2062C>T (p.Leu688Phe)	PCNT (L688F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 211848	NM_006031.6(PCNT):c.2575G>A (p.Asp859Asn)	PCNT (D859N +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GConflicting classifications of pathogenicity
Select item 994365	NM_006031.6(PCNT):c.3030G>A (p.Thr1010=)	PCNT	Single nucleotide variant (synonymous variant)	Microcephalic osteodysplastic primordial dwarfism type II +1 more	GLikely benign
Select item 436188	NM_006031.6(PCNT):c.3061C>T (p.Arg1021Trp)	PCNT (R1021W +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
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 159592	NM_006031.6(PCNT):c.3615G>A (p.Ala1205=)	PCNT	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 159593	NM_006031.6(PCNT):c.3748C>T (p.Arg1250Trp)	PCNT (R1250W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
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 383714	NM_006031.6(PCNT):c.4142C>T (p.Ala1381Val)	PCNT (A1381V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 898542	NM_006031.6(PCNT):c.4222C>T (p.Arg1408Trp)	PCNT (R1290W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 159599	NM_006031.6(PCNT):c.4285C>T (p.Arg1429Cys)	PCNT (R1429C +1 more)	Single nucleotide variant (missense variant)	not specified +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 +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)	not specified +3 more	GBenign/Likely benign
Select item 995606	NM_006031.6(PCNT):c.4554C>T (p.Arg1518=)	PCNT	Single nucleotide variant (synonymous variant)	Microcephalic osteodysplastic primordial dwarfism type II +1 more	GLikely benign
Select item 159605	NM_006031.6(PCNT):c.4571C>G (p.Pro1524Arg)	PCNT (P1524R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 159606	NM_006031.6(PCNT):c.4572G>A (p.Pro1524=)	PCNT	Single nucleotide variant (synonymous variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GBenign
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 340495	NM_006031.6(PCNT):c.4775T>G (p.Val1592Gly)	PCNT (V1592G +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II	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 provided +2 more	GBenign/Likely benign
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 2428508	NM_006031.6(PCNT):c.5505G>A (p.Leu1835=)	PCNT	Single nucleotide variant (synonymous variant)	Microcephalic osteodysplastic primordial dwarfism type II +1 more	GLikely benign
Select item 340503	NM_006031.6(PCNT):c.5582C>T (p.Ala1861Val)	PCNT (A1861V +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +1 more	GUncertain significance
Select item 502489	NM_006031.6(PCNT):c.5614G>A (p.Glu1872Lys)	PCNT (E1872K +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GBenign/Likely benign
Select item 340506	NM_006031.6(PCNT):c.5726C>T (p.Pro1909Leu)	PCNT (P1909L +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +1 more	GUncertain significance
Select item 159624	NM_006031.6(PCNT):c.5742G>A (p.Ala1914=)	PCNT	Single nucleotide variant (synonymous variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GBenign
Select item 95339	NM_006031.6(PCNT):c.5771C>T (p.Ala1924Val)	PCNT (A1924V +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 436204	NM_006031.6(PCNT):c.5815C>T (p.Arg1939Trp)	PCNT (R1939W +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GBenign/Likely benign
Select item 502491	NM_006031.6(PCNT):c.5872C>G (p.His1958Asp)	PCNT (H1958D +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 159626	NM_006031.6(PCNT):c.5879G>A (p.Arg1960Gln)	PCNT (R1960Q +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 211868	NM_006031.6(PCNT):c.5954C>T (p.Ser1985Phe)	PCNT (S1985F +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 993462	NM_006031.6(PCNT):c.5994+17G>A	PCNT	Single nucleotide variant (intron variant)	Microcephalic osteodysplastic primordial dwarfism type II +1 more	GLikely benign
Select item 211869	NM_006031.6(PCNT):c.6080A>G (p.Gln2027Arg)	PCNT (Q2027R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 159629	NM_006031.6(PCNT):c.6150+11G>C	PCNT	Single nucleotide variant (intron variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GBenign/Likely benign
Select item 791667	NM_006031.6(PCNT):c.6151-9C>T	PCNT	Single nucleotide variant (intron variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GConflicting classifications of pathogenicity
Select item 1442485	NM_006031.6(PCNT):c.6458A>G (p.Asn2153Ser)	PCNT (N2035S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 159636	NM_006031.6(PCNT):c.6579G>A (p.Pro2193=)	PCNT	Single nucleotide variant (synonymous variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GBenign
Select item 159637	NM_006031.6(PCNT):c.6616A>G (p.Thr2206Ala)	PCNT (T2206A +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GBenign/Likely benign
Select item 159639	NM_006031.6(PCNT):c.6634C>T (p.Arg2212Trp)	PCNT (R2212W +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GBenign/Likely benign
Select item 138627	NM_006031.6(PCNT):c.6739C>T (p.His2247Tyr)	PCNT (H2247Y +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 993566	NM_006031.6(PCNT):c.6800C>T (p.Ser2267Leu)	PCNT (S2149L +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GUncertain significance
Select item 211874	NM_006031.6(PCNT):c.6819G>A (p.Gly2273=)	PCNT	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 211875	NM_006031.6(PCNT):c.6822G>A (p.Pro2274=)	PCNT	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 211876	NM_006031.6(PCNT):c.6933C>T (p.Val2311=)	PCNT	Single nucleotide variant (synonymous variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 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 specified +2 more	GConflicting classifications of pathogenicity
Select item 159647	NM_006031.6(PCNT):c.6986C>G (p.Pro2329Arg)	PCNT (P2329R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
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	GLikely benign
Select item 1338717	NM_006031.6(PCNT):c.7045G>C (p.Ala2349Pro)	PCNT (A2231P +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 211877	NM_006031.6(PCNT):c.7104T>C (p.Pro2368=)	PCNT	Single nucleotide variant (synonymous variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GConflicting classifications of pathogenicity
Select item 159650	NM_006031.6(PCNT):c.7159G>A (p.Val2387Met)	PCNT (V2387M +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 994363	NM_006031.6(PCNT):c.7167G>A (p.Pro2389=)	PCNT	Single nucleotide variant (synonymous variant)	Microcephalic osteodysplastic primordial dwarfism type II +1 more	GLikely benign
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 211878	NM_006031.6(PCNT):c.7259C>T (p.Pro2420Leu)	PCNT (P2420L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 436216	NM_006031.6(PCNT):c.7304A>G (p.His2435Arg)	PCNT (H2435R +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +1 more	GUncertain significance
Select item 159656	NM_006031.6(PCNT):c.7353G>A (p.Gly2451=)	PCNT	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 380132	NM_006031.6(PCNT):c.7398G>A (p.Glu2466=)	PCNT	Single nucleotide variant (synonymous variant)	Microcephalic osteodysplastic primordial dwarfism type II +1 more	GBenign/Likely benign
Select item 159657	NM_006031.6(PCNT):c.7404G>C (p.Gln2468His)	PCNT (Q2468H +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 138605	NM_006031.6(PCNT):c.7652C>T (p.Ala2551Val)	PCNT (A2551V +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
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 138606	NM_006031.6(PCNT):c.7800G>A (p.Ala2600=)	PCNT	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 159665	NM_006031.6(PCNT):c.7867C>T (p.Leu2623=)	PCNT	Single nucleotide variant (synonymous variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GBenign
Select item 380133	NM_006031.6(PCNT):c.7914-5C>T	PCNT	Single nucleotide variant (intron variant)	Microcephalic osteodysplastic primordial dwarfism type II +1 more	GBenign/Likely benign
Select item 159669	NM_006031.6(PCNT):c.7914-4G>A	PCNT	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 378330	NM_006031.6(PCNT):c.8065-19G>A	PCNT	Single nucleotide variant (intron variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GBenign/Likely benign
Select item 2159552	NM_006031.6(PCNT):c.8182C>T (p.Arg2728Cys)	PCNT (R2610C +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +1 more	GUncertain significance
Select item 138609	NM_006031.6(PCNT):c.8224G>C (p.Glu2742Gln)	PCNT (E2742Q +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GLikely benign
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 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 167430	NM_006031.6(PCNT):c.8401G>C (p.Val2801Leu)	PCNT (V2801L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 211885	NM_006031.6(PCNT):c.8646G>C (p.Leu2882Phe)	PCNT (L2882F)	Single nucleotide variant (missense variant +1 more)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GConflicting classifications of pathogenicity
Select item 138611	NM_006031.6(PCNT):c.8671G>A (p.Ala2891Thr)	PCNT (A2891T)	Single nucleotide variant (missense variant +1 more)	Microcephalic osteodysplastic primordial dwarfism type II +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 2632116	NM_006031.6(PCNT):c.8906G>A (p.Arg2969Gln)	PCNT (R2772Q +1 more)	Single nucleotide variant (missense variant)	PCNT-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 159682	NM_006031.6(PCNT):c.8924T>C (p.Leu2975Pro)	PCNT (L2975P +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GBenign/Likely benign
Select item 436229	NM_006031.6(PCNT):c.8956G>A (p.Ala2986Thr)	PCNT (A2986T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 159686	NM_006031.6(PCNT):c.9014C>T (p.Thr3005Met)	PCNT (T3005M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 159687	NM_006031.6(PCNT):c.9015G>A (p.Thr3005=)	PCNT	Single nucleotide variant (synonymous variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GBenign
Select item 897850	NM_006031.6(PCNT):c.9099+12G>A	PCNT	Single nucleotide variant (intron variant)	Microcephalic osteodysplastic primordial dwarfism type II +1 more	GBenign/Likely benign
Select item 502487	NM_006031.6(PCNT):c.9247C>T (p.His3083Tyr)	PCNT (H3083Y +1 more)	Single nucleotide variant (missense variant)	not specified +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 159694	NM_006031.6(PCNT):c.9623+8C>T	PCNT	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
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 509576	NM_006031.6(PCNT):c.9967+18C>T	PCNT	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign

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Items: 99