5155[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 57943	GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3	LOC130067459, LOC130067460 +273 more	Copy number gain	See cases	GPathogenic
Select item 1279656	NM_002608.4(PDGFB):c.*28+155T>C	PDGFB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266971	NM_002608.4(PDGFB):c.*28+121C>T	PDGFB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226480	NM_002608.4(PDGFB):c.*18TG[2]	PDGFB	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 3048695	NM_002608.4(PDGFB):c.*7C>T	PDGFB	Single nucleotide variant (3 prime UTR variant)	PDGFB-related disorder	GLikely benign
Select item 75241	NM_002608.4(PDGFB):c.726G>C (p.Ter242Tyr)	PDGFB	Single nucleotide variant (stop lost)	Basal ganglia calcification, idiopathic, 5	GPathogenic
Select item 2720775	NM_002608.4(PDGFB):c.725A>G (p.Ter242Trp)	PDGFB	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 2505942	NM_002608.4(PDGFB):c.724T>C (p.Ter242Gln)	PDGFB	Single nucleotide variant (stop lost)	not provided	GLikely pathogenic
Select item 3305445	NM_002608.4(PDGFB):c.722C>G (p.Ala241Gly)	PDGFB (A226G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 930299	NM_002608.4(PDGFB):c.716T>C (p.Leu239Pro)	PDGFB (L224P +1 more)	Single nucleotide variant (missense variant)	Familial meningioma	GUncertain significance
Select item 2834664	NM_002608.4(PDGFB):c.715C>G (p.Leu239Val)	PDGFB (L224V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1940702	NM_002608.4(PDGFB):c.703C>G (p.Leu235Val)	PDGFB (L220V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2906375	NM_002608.4(PDGFB):c.700G>A (p.Ala234Thr)	PDGFB (A219T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1600252	NM_002608.4(PDGFB):c.699G>A (p.Thr233=)	PDGFB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2724253	NM_002608.4(PDGFB):c.691G>T (p.Asp231Tyr)	PDGFB (D216Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1981840	NM_002608.4(PDGFB):c.687G>A (p.Thr229=)	PDGFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2251895	NM_002608.4(PDGFB):c.686C>T (p.Thr229Met)	PDGFB (T214M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1315886	NM_002608.4(PDGFB):c.670_684del (p.Arg224_His228del)	PDGFB	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1975696	NM_002608.4(PDGFB):c.682C>A (p.His228Asn)	PDGFB (H213N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 522278	NM_002608.4(PDGFB):c.670C>T (p.Arg224Trp)	PDGFB (R224W +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 3305449	NM_002608.4(PDGFB):c.661G>A (p.Gly221Ser)	PDGFB (G221S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3021939	NM_002608.4(PDGFB):c.657C>T (p.Pro219=)	PDGFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 777710	NM_002608.4(PDGFB):c.657C>A (p.Pro219=)	PDGFB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2352264	NM_002608.4(PDGFB):c.656C>G (p.Pro219Arg)	PDGFB (P219R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2171240	NM_002608.4(PDGFB):c.656C>T (p.Pro219Leu)	PDGFB (P204L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1626703	NM_002608.4(PDGFB):c.647G>A (p.Arg216His)	PDGFB (R201H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 522279	NM_002608.4(PDGFB):c.635C>T (p.Thr212Met)	PDGFB (T212M +1 more)	Single nucleotide variant (missense variant)	Dermatofibrosarcoma protuberans +1 more	GBenign/Likely benign
Select item 2405348	NM_002608.4(PDGFB):c.631C>T (p.Arg211Trp)	PDGFB (R211W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3210826	NM_002608.4(PDGFB):c.620G>A (p.Arg207Gln)	PDGFB (R192Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479071	NM_002608.4(PDGFB):c.619C>T (p.Arg207Trp)	PDGFB (R207W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1952896	NM_002608.4(PDGFB):c.614A>C (p.Gln205Pro)	PDGFB (Q205P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3210825	NM_002608.4(PDGFB):c.608C>T (p.Thr203Met)	PDGFB (T188M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1250450	NM_002608.4(PDGFB):c.602-41A>G	PDGFB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252572	NM_002608.4(PDGFB):c.602-206G>A	PDGFB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191578	NM_002608.4(PDGFB):c.602-244G>A	PDGFB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 12598	NM_002608.4(PDGFB):c.602-1396_602-1262del	PDGFB	Deletion (intron variant)	Meningioma	GPathogenic
Select item 1182284	NM_002608.4(PDGFB):c.601+65G>A	PDGFB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2190344	NM_002608.4(PDGFB):c.599G>A (p.Arg200Gln)	PDGFB (R185Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1690643	NM_002608.4(PDGFB):c.598C>T (p.Arg200Ter)	PDGFB (R185* +1 more)	Single nucleotide variant (nonsense)	Basal ganglia calcification, idiopathic, 5 +1 more	GConflicting classifications of pathogenicity
Select item 2251893	NM_002608.4(PDGFB):c.597G>T (p.Gln199His)	PDGFB (Q199H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2030849	NM_002608.4(PDGFB):c.589C>T (p.Gln197Ter)	PDGFB (Q182* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2653142	NM_002608.4(PDGFB):c.579G>A (p.Pro193=)	PDGFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2185154	NM_002608.4(PDGFB):c.578C>T (p.Pro193Leu)	PDGFB (P193L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1208241	NM_002608.4(PDGFB):c.572G>A (p.Arg191Gln)	PDGFB (R176Q +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1684997	NM_002608.4(PDGFB):c.562C>T (p.Pro188Ser)	PDGFB (P173S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2187361	NM_002608.4(PDGFB):c.560G>A (p.Arg187Gln)	PDGFB (R187Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2189522	NM_002608.4(PDGFB):c.559C>T (p.Arg187Trp)	PDGFB (R187W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 708647	NM_002608.4(PDGFB):c.558A>G (p.Ala186=)	PDGFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 981863	NM_002608.4(PDGFB):c.540T>G (p.Cys180Trp)	PDGFB (C165W +1 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 1966038	NM_002608.4(PDGFB):c.528G>A (p.Leu176=)	PDGFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2014034	NM_002608.4(PDGFB):c.512del (p.Thr171fs)	PDGFB (T156fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 988462	NM_002608.4(PDGFB):c.512C>T (p.Thr171Met)	PDGFB (T156M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2264365	NM_002608.4(PDGFB):c.506C>T (p.Thr169Met)	PDGFB (T169M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1318513	NM_002608.4(PDGFB):c.502G>T (p.Ala168Ser)	PDGFB (A153S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026228	NM_002608.4(PDGFB):c.478C>T (p.Arg160Trp)	PDGFB (R145W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3054424	NM_002608.4(PDGFB):c.468C>A (p.Ile156=)	PDGFB	Single nucleotide variant (synonymous variant)	PDGFB-related disorder	GLikely benign
Select item 3034328	NM_002608.4(PDGFB):c.468C>T (p.Ile156=)	PDGFB	Single nucleotide variant (synonymous variant)	PDGFB-related disorder	GLikely benign
Select item 1316996	NM_002608.4(PDGFB):c.457G>A (p.Val153Met)	PDGFB (V138M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 809371	NM_002608.4(PDGFB):c.457-1G>C	PDGFB	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1320974	NM_002608.4(PDGFB):c.457-2A>G	PDGFB	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1230283	NM_002608.4(PDGFB):c.457-142T>G	PDGFB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233058	NM_002608.4(PDGFB):c.457-186G>A	PDGFB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214113	NM_002608.4(PDGFB):c.457-309C>T	PDGFB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182039	NM_002608.4(PDGFB):c.456+248C>A	PDGFB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1989434	NM_002608.4(PDGFB):c.456+15C>T	PDGFB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2747871	NM_002608.4(PDGFB):c.456+10C>T	PDGFB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2415284	NM_002608.4(PDGFB):c.456+5G>A	PDGFB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2052566	NM_002608.4(PDGFB):c.456+4C>G	PDGFB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1188397	NM_002608.4(PDGFB):c.453C>G (p.Val151=)	PDGFB	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2860967	NM_002608.4(PDGFB):c.449C>T (p.Pro150Leu)	PDGFB (P135L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 75243	NM_002608.4(PDGFB):c.445C>T (p.Arg149Ter)	PDGFB (R149* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 3305447	NM_002608.4(PDGFB):c.434A>G (p.Gln145Arg)	PDGFB (Q145R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2585196	NM_002608.4(PDGFB):c.434A>C (p.Gln145Pro)	PDGFB (Q130P +1 more)	Single nucleotide variant (missense variant)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 75237	NM_002608.4(PDGFB):c.433C>T (p.Gln145Ter)	PDGFB (Q145* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3210824	NM_002608.4(PDGFB):c.424C>T (p.Arg142Cys)	PDGFB (R142C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3210823	NM_002608.4(PDGFB):c.415G>A (p.Val139Met)	PDGFB (V139M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 756354	NM_002608.4(PDGFB):c.393C>T (p.Ser131=)	PDGFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 372686	NM_002608.4(PDGFB):c.386G>A (p.Arg129His)	PDGFB (R129H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2874449	NM_002608.4(PDGFB):c.385C>T (p.Arg129Cys)	PDGFB (R114C +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2896703	NM_002608.4(PDGFB):c.366G>A (p.Pro122=)	PDGFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 75239	NM_002608.4(PDGFB):c.356T>C (p.Leu119Pro)	PDGFB (L119P +1 more)	Single nucleotide variant (missense variant)	Basal ganglia calcification, idiopathic, 5	GPathogenic
Select item 2367077	NM_002608.4(PDGFB):c.338G>A (p.Arg113His)	PDGFB (R98H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1687711	NM_002608.4(PDGFB):c.328C>G (p.Leu110Val)	PDGFB (L110V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3210822	NM_002608.4(PDGFB):c.326G>A (p.Arg109His)	PDGFB (R109H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2967403	NM_002608.4(PDGFB):c.316A>G (p.Ile106Val)	PDGFB (I106V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723299	NM_002608.4(PDGFB):c.313G>A (p.Glu105Lys)	PDGFB (E105K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1679380	NM_002608.4(PDGFB):c.298C>T (p.Arg100Cys)	PDGFB (R100C +1 more)	Single nucleotide variant (missense variant)	Basal ganglia calcification, idiopathic, 5 +1 more	GUncertain significance
Select item 736624	NM_002608.4(PDGFB):c.296C>T (p.Thr99Met)	PDGFB (T84M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2725521	NM_002608.4(PDGFB):c.289T>C (p.Cys97Arg)	PDGFB (C97R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2163377	NM_002608.4(PDGFB):c.285C>T (p.Ala95=)	PDGFB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2261515	NM_002608.4(PDGFB):c.278T>C (p.Met93Thr)	PDGFB (M93T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2785932	NM_002608.4(PDGFB):c.274G>T (p.Ala92Ser)	PDGFB (A77S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1210104	NM_002608.4(PDGFB):c.273G>A (p.Pro91=)	PDGFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2073161	NM_002608.4(PDGFB):c.270G>A (p.Glu90=)	PDGFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 725856	NM_002608.4(PDGFB):c.262A>G (p.Ile88Val)	PDGFB (I73V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2883960	NM_002608.4(PDGFB):c.251-7C>G	PDGFB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1328655	NM_002608.4(PDGFB):c.251-12G>A	PDGFB	Single nucleotide variant (intron variant)	not provided	GLikely benign

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