"GeneDx"[submitter] AND "PCNT"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 1210752	NC_000021.9:g.46323895del	LOC130066875, PCNT	Deletion	not provided	GLikely benign
Select item 1300651	NC_000021.9:g.46324025C>T	LOC130066875, PCNT	Single nucleotide variant	not provided	GLikely benign
Select item 1228801	NC_000021.9:g.46324040C>T	LOC130066875, PCNT	Single nucleotide variant	not provided	GBenign
Select item 1194669	NC_000021.9:g.46324062C>T	LOC130066875, PCNT	Single nucleotide variant	not provided	GLikely benign
Select item 138617	NM_006031.6(PCNT):c.-16G>T	LOC130066875, PCNT	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
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 517931	NM_006031.6(PCNT):c.49A>G (p.Thr17Ala)	PCNT (T17A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 138618	NM_006031.6(PCNT):c.54+6C>T	PCNT	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1214065	NM_006031.6(PCNT):c.54+141C>T	PCNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211515	NM_006031.6(PCNT):c.54+161C>T	PCNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247194	NM_006031.6(PCNT):c.54+271_54+275dup	LOC130066876, PCNT	Duplication (intron variant)	not provided	GBenign
Select item 1276503	NM_006031.6(PCNT):c.54+287_54+288insTG	LOC130066876, PCNT	Insertion (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 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 517802	NM_006031.6(PCNT):c.202G>C (p.Asp68His)	PCNT (D68H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 677635	NM_006031.6(PCNT):c.267+163G>A	PCNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189172	NM_006031.6(PCNT):c.268-330T>C	PCNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205511	NM_006031.6(PCNT):c.268-323G>A	PCNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181676	NM_006031.6(PCNT):c.268-193C>A	PCNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 508288	NM_006031.6(PCNT):c.363A>C (p.Thr121=)	PCNT	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 429602	NM_006031.6(PCNT):c.398del (p.Phe133fs)	PCNT (F15fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 518323	NM_006031.6(PCNT):c.406G>A (p.Gly136Ser)	PCNT (G136S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 287864	NM_006031.6(PCNT):c.418C>T (p.Pro140Ser)	PCNT (P140S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 211862	NM_006031.6(PCNT):c.467_505dup (p.His156_Gln168dup)	PCNT	Duplication (inframe_insertion)	not specified +2 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)	Microcephalic osteodysplastic primordial dwarfism type II +1 more	GConflicting classifications of pathogenicity
Select item 159609	NM_006031.6(PCNT):c.467_505del (p.His156_Gln168del)	PCNT	Deletion (inframe_deletion)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GBenign/Likely benign
Select item 340460	NM_006031.6(PCNT):c.445A>G (p.Ser149Gly)	PCNT (S149G +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +1 more	GUncertain significance
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 +1 more	GUncertain significance
Select item 449240	NM_006031.6(PCNT):c.467_583dup (p.His156_Gln194dup)	PCNT	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 159608	NM_006031.6(PCNT):c.467A>G (p.His156Arg)	PCNT (H156R +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GConflicting classifications of pathogenicity
Select item 138612	NM_006031.6(PCNT):c.498A>G (p.Pro166=)	PCNT	Single nucleotide variant (synonymous variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GBenign
Select item 159616	NM_006031.6(PCNT):c.506G>A (p.Arg169His)	PCNT (R169H +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +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)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GBenign
Select item 1231705	NM_006031.6(PCNT):c.639+181C>A	PCNT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 159632	NM_006031.6(PCNT):c.640-38T>G	PCNT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 397627	NM_006031.6(PCNT):c.644G>A (p.Cys215Tyr)	PCNT (C215Y +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +3 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)	not specified +2 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)	not provided +2 more	GBenign
Select item 667797	NM_006031.6(PCNT):c.720+110A>C	PCNT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293625	NM_006031.6(PCNT):c.721-200C>T	PCNT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 514179	NM_006031.6(PCNT):c.721-13T>G	PCNT	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 159653	NM_006031.6(PCNT):c.721-7G>A	PCNT	Single nucleotide variant (intron variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GBenign
Select item 436176	NM_006031.6(PCNT):c.724G>A (p.Val242Met)	PCNT (V242M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1706181	NM_006031.6(PCNT):c.764G>A (p.Ser255Asn)	PCNT (S137N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1423172	NM_006031.6(PCNT):c.776C>T (p.Thr259Met)	PCNT (T141M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 429553	NM_006031.6(PCNT):c.934C>T (p.Arg312Trp)	PCNT (R312W +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	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 +2 more	GUncertain significance
Select item 1295376	NM_006031.6(PCNT):c.976+96G>A	PCNT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197794	NM_006031.6(PCNT):c.977-218C>T	PCNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245522	NM_006031.6(PCNT):c.977-192G>A	PCNT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295377	NM_006031.6(PCNT):c.977-76G>C	PCNT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251158	NM_006031.6(PCNT):c.1032+56C>T	PCNT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191432	NM_006031.6(PCNT):c.1032+141T>C	PCNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249017	NM_006031.6(PCNT):c.1032+274C>A	PCNT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234702	NM_006031.6(PCNT):c.1033-254T>G	PCNT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178679	NM_006031.6(PCNT):c.1033-160C>G	PCNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 340467	NM_006031.6(PCNT):c.1107T>C (p.His369=)	PCNT	Single nucleotide variant (synonymous variant)	Microcephalic osteodysplastic primordial dwarfism type II +1 more	GConflicting classifications of pathogenicity
Select item 159564	NM_006031.6(PCNT):c.1207+34A>T	PCNT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267925	NM_006031.6(PCNT):c.1207+196C>G	PCNT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 291038	NM_006031.6(PCNT):c.1246A>G (p.Ile416Val)	PCNT (I416V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 668870	NM_006031.6(PCNT):c.1345-287C>T	PCNT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1298017	NM_006031.6(PCNT):c.1345-172C>T	PCNT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 449220	NM_006031.6(PCNT):c.1393G>A (p.Glu465Lys)	PCNT (E465K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1183929	NM_006031.6(PCNT):c.1456+111A>G	PCNT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201698	NM_006031.6(PCNT):c.1457-250C>A	PCNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235990	NM_006031.6(PCNT):c.1457-163G>A	PCNT	Single nucleotide variant (intron variant)	not provided	GBenign
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 159566	NM_006031.6(PCNT):c.1542C>A (p.Ser514=)	PCNT	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1310794	NM_006031.6(PCNT):c.1606G>A (p.Glu536Lys)	PCNT (E418K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 159567	NM_006031.6(PCNT):c.1616C>T (p.Thr539Ile)	PCNT (T539I +1 more)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GBenign
Select item 385565	NM_006031.6(PCNT):c.1640G>A (p.Gly547Glu)	PCNT (G547E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1295375	NM_006031.6(PCNT):c.1679+220C>G	PCNT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208855	NM_006031.6(PCNT):c.1679+224C>G	PCNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186275	NM_006031.6(PCNT):c.1679+314GT[3]	PCNT	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1276636	NM_006031.6(PCNT):c.1680-271GT[19]	PCNT	Microsatellite (intron variant)	not provided	GBenign
Select item 1263398	NM_006031.6(PCNT):c.1680-271GT[22]	PCNT	Microsatellite (intron variant)	not provided	GBenign
Select item 1194368	NM_006031.6(PCNT):c.1680-271GT[20]	PCNT	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1291742	NM_006031.6(PCNT):c.1680-271GT[15]	PCNT	Microsatellite (intron variant)	not provided	GBenign
Select item 1242644	NM_006031.6(PCNT):c.1680-271GT[17]	PCNT	Microsatellite (intron variant)	not provided	GBenign
Select item 1227733	NM_006031.6(PCNT):c.1680-271GT[16]	PCNT	Microsatellite (intron variant)	not provided	GBenign
Select item 1222314	NM_006031.6(PCNT):c.1680-242_1680-233del	PCNT	Deletion (intron variant)	not provided	GBenign
Select item 1247839	NM_006031.6(PCNT):c.1680-238_1680-233del	PCNT	Deletion (intron variant)	not provided	GBenign
Select item 1295772	NM_006031.6(PCNT):c.1680-236_1680-233del	PCNT	Deletion (intron variant)	not provided	GBenign
Select item 1267611	NM_006031.6(PCNT):c.1680-235_1680-234insTGTGAG	PCNT	Microsatellite (intron variant)	not provided	GBenign
Select item 1204484	NM_006031.6(PCNT):c.1680-235_1680-234insTGAG	PCNT	Insertion (intron variant)	not provided	GLikely benign
Select item 1203719	NM_006031.6(PCNT):c.1680-236T>A	PCNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295783	NM_006031.6(PCNT):c.1680-235GA[3]	PCNT	Microsatellite (intron variant)	not provided	GBenign
Select item 1248776	NM_006031.6(PCNT):c.1680-234A>T	PCNT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267019	NM_006031.6(PCNT):c.1680-232A>T	PCNT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262233	NM_006031.6(PCNT):c.1680-226AG[3]	PCNT	Microsatellite (intron variant)	not provided	GBenign
Select item 1197585	NM_006031.6(PCNT):c.1680-147C>T	PCNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 386398	NM_006031.6(PCNT):c.1761+14C>T	PCNT	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1252922	NM_006031.6(PCNT):c.1761+57T>C	PCNT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228693	NM_006031.6(PCNT):c.1761+270=	PCNT	Deletion (intron variant)	not provided	GBenign
Select item 1221509	NM_006031.6(PCNT):c.1762-243C>T	PCNT	Single nucleotide variant (intron variant)	not provided	GBenign
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 450373	NM_006031.6(PCNT):c.1790T>C (p.Leu597Ser)	PCNT (L597S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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