PODXL[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	LOC129999373, LOC129999374 +492 more	Copy number loss	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 154485	GRCh38/hg38 7q31.33-33(chr7:124170657-134163594)x1	COPG2, COPG2IT1 +342 more	Copy number loss	See cases	GPathogenic
Select item 60295	GRCh38/hg38 7q31.33-32.3(chr7:126859732-132750936)x1	LOC129999356, LOC129999357 +284 more	Copy number loss	See cases	GPathogenic
Select item 57379	GRCh38/hg38 7q32.1-33(chr7:128747478-134018250)x3	AHCYL2, ATP6V1F +233 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 3033655	NM_001018111.3(PODXL):c.*8T>G	PODXL	Single nucleotide variant (3 prime UTR variant)	PODXL-related disorder	GLikely benign
Select item 3034356	NM_001018111.3(PODXL):c.*6T>G	PODXL	Single nucleotide variant (3 prime UTR variant)	PODXL-related disorder	GLikely benign
Select item 1555206	NM_001018111.3(PODXL):c.1653T>C (p.Asp551=)	PODXL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2568607	NM_001018111.3(PODXL):c.1652A>G (p.Asp551Gly)	PODXL (D519G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1457388	NM_001018111.3(PODXL):c.1642G>A (p.Asp548Asn)	PODXL (D548N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2049227	NM_001018111.3(PODXL):c.1640A>G (p.Lys547Arg)	PODXL (K515R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2282586	NM_001018111.3(PODXL):c.1637C>T (p.Thr546Ile)	PODXL (T514I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1645467	NM_001018111.3(PODXL):c.1635G>A (p.Leu545=)	PODXL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1528298	NM_001018111.3(PODXL):c.1618G>A (p.Val540Ile)	PODXL (V508I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2888177	NM_001018111.3(PODXL):c.1611C>T (p.Ser537=)	PODXL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1553858	NM_001018111.3(PODXL):c.1607A>G (p.Asp536Gly)	PODXL (D504G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1949928	NM_001018111.3(PODXL):c.1606G>A (p.Asp536Asn)	PODXL (D504N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 786111	NM_001018111.3(PODXL):c.1605G>T (p.Gly535=)	PODXL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2358375	NM_001018111.3(PODXL):c.1577A>T (p.Lys526Met)	PODXL (K494M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358374	NM_001018111.3(PODXL):c.1576A>G (p.Lys526Glu)	PODXL (K526E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2197484	NM_001018111.3(PODXL):c.1570_1572del (p.Glu524del)	PODXL (E492del +1 more)	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 1905888	NM_001018111.3(PODXL):c.1564A>G (p.Met522Val)	PODXL (M490V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 735652	NM_001018111.3(PODXL):c.1560T>G (p.Ser520=)	PODXL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1546903	NM_001018111.3(PODXL):c.1557T>C (p.Ser519=)	PODXL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 790357	NM_001018111.3(PODXL):c.1539G>A (p.Leu513=)	PODXL	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1936195	NM_001018111.3(PODXL):c.1537C>A (p.Leu513Met)	PODXL (L513M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982218	NM_001018111.3(PODXL):c.1524T>C (p.His508=)	PODXL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 770565	NM_001018111.3(PODXL):c.1506A>G (p.Thr502=)	PODXL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2595685	NM_001018111.3(PODXL):c.1484G>A (p.Arg495Gln)	PODXL (R495Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2698532	NM_001018111.3(PODXL):c.1483C>T (p.Arg495Trp)	PODXL (R495W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2973782	NM_001018111.3(PODXL):c.1480-1G>A	PODXL	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1670390	NM_001018111.3(PODXL):c.1480-20G>A	PODXL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264159	NM_001018111.3(PODXL):c.1479+145C>T	PODXL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234132	NM_001018111.3(PODXL):c.1479+73G>C	PODXL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2074789	NM_001018111.3(PODXL):c.1479+5G>A	PODXL	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1993350	NM_001018111.3(PODXL):c.1474G>A (p.Asp492Asn)	PODXL (D460N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3054071	NM_001018111.3(PODXL):c.1461C>A (p.Leu487=)	PODXL	Single nucleotide variant (synonymous variant)	PODXL-related disorder	GLikely benign
Select item 1927705	NM_001018111.3(PODXL):c.1457G>A (p.Arg486His)	PODXL (R486H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3216182	NM_001018111.3(PODXL):c.1456C>T (p.Arg486Cys)	PODXL (R454C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216181	NM_001018111.3(PODXL):c.1450C>T (p.His484Tyr)	PODXL (H452Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2115452	NM_001018111.3(PODXL):c.1443C>G (p.Gly481=)	PODXL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1979535	NM_001018111.3(PODXL):c.1431G>A (p.Ala477=)	PODXL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893111	NM_001018111.3(PODXL):c.1426G>A (p.Val476Met)	PODXL (V444M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2081541	NM_001018111.3(PODXL):c.1425C>T (p.Leu475=)	PODXL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 189330	NM_001018111.3(PODXL):c.1421T>G (p.Leu474Arg)	PODXL (L442R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1225288	NM_001018111.3(PODXL):c.1410A>G (p.Ala470=)	PODXL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2895833	NM_001018111.3(PODXL):c.1399G>A (p.Val467Ile)	PODXL (V435I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2909301	NM_001018111.3(PODXL):c.1398C>T (p.Ile466=)	PODXL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2714012	NM_001018111.3(PODXL):c.1384del (p.Leu462fs)	PODXL (L430fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 218943	NM_001018111.3(PODXL):c.1381C>A (p.Pro461Thr)	PODXL (P461T +1 more)	Single nucleotide variant (missense variant)	Parkinson disease, late-onset	GUncertain significance
Select item 2861752	NM_001018111.3(PODXL):c.1352C>T (p.Pro451Leu)	PODXL (P419L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3006886	NM_001018111.3(PODXL):c.1347G>A (p.Gly449=)	PODXL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1898351	NM_001018111.3(PODXL):c.1312-13A>C	PODXL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283459	NM_001018111.3(PODXL):c.1312-88del	PODXL	Deletion (intron variant)	not provided	GBenign
Select item 2874695	NM_001018111.3(PODXL):c.1311+11C>T	PODXL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 780719	NM_001018111.3(PODXL):c.1311+9C>T	PODXL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1595343	NM_001018111.3(PODXL):c.1311+7G>A	PODXL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1297937	NM_001018111.3(PODXL):c.1311+6C>T	PODXL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1625922	NM_001018111.3(PODXL):c.1299T>G (p.Asp433Glu)	PODXL (D401E +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1656598	NM_001018111.3(PODXL):c.1287G>A (p.Lys429=)	PODXL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1670452	NM_001018111.3(PODXL):c.1284G>A (p.Leu428=)	PODXL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1587275	NM_001018111.3(PODXL):c.1280G>A (p.Arg427Gln)	PODXL (R395Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 726353	NM_001018111.3(PODXL):c.1276G>A (p.Glu426Lys)	PODXL (E394K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1518737	NM_001018111.3(PODXL):c.1267G>A (p.Asp423Asn)	PODXL (D391N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1612256	NM_001018111.3(PODXL):c.1250-17G>A	PODXL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1925589	NM_001018111.3(PODXL):c.1222G>A (p.Val408Met)	PODXL (V376M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1988849	NM_001018111.3(PODXL):c.1221C>T (p.Thr407=)	PODXL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1626152	NM_001018111.3(PODXL):c.1221C>A (p.Thr407=)	PODXL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1392190	NM_001018111.3(PODXL):c.1220C>T (p.Thr407Ile)	PODXL (T407I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1434763	NM_001018111.3(PODXL):c.1218G>T (p.Gln406His)	PODXL (Q374H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 218944	NM_001018111.3(PODXL):c.1214G>A (p.Ser405Asn)	PODXL (S405N +1 more)	Single nucleotide variant (missense variant)	Parkinson disease, late-onset	GUncertain significance
Select item 2183867	NM_001018111.3(PODXL):c.1206T>C (p.Val402=)	PODXL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2258130	NM_001018111.3(PODXL):c.1193G>A (p.Arg398Gln)	PODXL (R366Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2046488	NM_001018111.3(PODXL):c.1186G>A (p.Gly396Ser)	PODXL (G396S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2026207	NM_001018111.3(PODXL):c.1185C>A (p.Cys395Ter)	PODXL (C363* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1634289	NM_001018111.3(PODXL):c.1185C>T (p.Cys395=)	PODXL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1922849	NM_001018111.3(PODXL):c.1170G>A (p.Pro390=)	PODXL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1509243	NM_001018111.3(PODXL):c.1169C>G (p.Pro390Arg)	PODXL (P358R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 709811	NM_001018111.3(PODXL):c.1169C>T (p.Pro390Leu)	PODXL (P358L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1444238	NM_001018111.3(PODXL):c.1145G>A (p.Arg382Gln)	PODXL (R382Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1259374	NM_001018111.3(PODXL):c.1126T>C (p.Leu376=)	PODXL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2992348	NM_001018111.3(PODXL):c.1115C>T (p.Ser372Leu)	PODXL (S340L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 786112	NM_001018111.3(PODXL):c.1111G>A (p.Ala371Thr)	PODXL (A339T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2042875	NM_001018111.3(PODXL):c.1108G>A (p.Gly370Ser)	PODXL (G338S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1438439	NM_001018111.3(PODXL):c.1102-3T>C	PODXL	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2877626	NM_001018111.3(PODXL):c.1102-4A>G	PODXL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980187	NM_001018111.3(PODXL):c.1102-16G>A	PODXL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263851	NM_001018111.3(PODXL):c.1102-51T>C	PODXL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222217	NM_001018111.3(PODXL):c.1102-70del	PODXL	Deletion (intron variant)	not provided	GBenign
Select item 1280090	NM_001018111.3(PODXL):c.1102-124T>C	PODXL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265596	NM_001018111.3(PODXL):c.1102-206A>G	PODXL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230930	NM_001018111.3(PODXL):c.1101+15G>T	PODXL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2428082	NM_001018111.3(PODXL):c.1101+8G>C	PODXL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2802533	NM_001018111.3(PODXL):c.1101+6T>C	PODXL	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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