9299[HGNC] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 225

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 146119	GRCh38/hg38 5q31.1(chr5:131626503-135815054)x1	ACSL6, ACSL6-AS1 +263 more	Copy number loss	See cases	GPathogenic
Select item 58360	GRCh38/hg38 5q31.1(chr5:132816203-135383158)x1	AFF4, AFF4-DT +147 more	Copy number loss	See cases	GPathogenic
Select item 58361	GRCh38/hg38 5q31.1-31.2(chr5:133401565-138437038)x1	BRD8, C5orf15 +230 more	Copy number loss	See cases	GPathogenic
Select item 58362	GRCh38/hg38 5q31.1(chr5:133531234-134847678)x1	C5orf15, C5orf24 +100 more	Copy number loss	See cases	GPathogenic
Select item 3039371	NM_002715.4(PPP2CA):c.5_6del	PPP2CA	Deletion (3 prime UTR variant +1 more)	PPP2CA-related disorder	GLikely benign
Select item 620081	NM_002715.4(PPP2CA):c.922_924dup (p.Phe308dup)	PPP2CA	Duplication (inframe_insertion +1 more)	Houge-Janssens syndrome 3	GLikely pathogenic
Select item 219302	NM_002715.4(PPP2CA):c.922_924del (p.Phe308del)	PPP2CA (F308del +1 more)	Deletion (inframe_deletion +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 1312350	NM_002715.4(PPP2CA):c.920A>G (p.Tyr307Cys)	PPP2CA (Y242C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2861050	NM_002715.4(PPP2CA):c.906T>A (p.Arg302=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2314421	NM_002715.4(PPP2CA):c.889G>A (p.Glu297Lys)	PPP2CA (E297K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2088108	NM_002715.4(PPP2CA):c.888C>T (p.Gly296=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1491762	NM_002715.4(PPP2CA):c.863A>C (p.Gln288Pro)	PPP2CA (Q223P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3011756	NM_002715.4(PPP2CA):c.858-8T>C	PPP2CA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1673379	NM_002715.4(PPP2CA):c.858-15G>A	PPP2CA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1635547	NM_002715.4(PPP2CA):c.858-15G>T	PPP2CA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1633998	NM_002715.4(PPP2CA):c.858-16C>T	PPP2CA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2043206	NM_002715.4(PPP2CA):c.857+20_857+21del	PPP2CA	Deletion (intron variant)	not provided	GLikely benign
Select item 1494480	NM_002715.4(PPP2CA):c.857+20C>G	PPP2CA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1666821	NM_002715.4(PPP2CA):c.857+17G>C	PPP2CA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1666288	NM_002715.4(PPP2CA):c.857+14C>T	PPP2CA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1558703	NM_002715.4(PPP2CA):c.855T>C (p.Ser285=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2016857	NM_002715.4(PPP2CA):c.852C>G (p.Tyr284Ter)	PPP2CA (Y284* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1555010	NM_002715.4(PPP2CA):c.852C>T (p.Tyr284=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1621992	NM_002715.4(PPP2CA):c.846A>G (p.Leu282=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1370149	NM_002715.4(PPP2CA):c.841_842insAA (p.Thr281fs)	PPP2CA (T281fs +1 more)	Insertion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1611135	NM_002715.4(PPP2CA):c.837C>T (p.Asp279=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1348957	NM_002715.4(PPP2CA):c.826A>G (p.Met276Val)	PPP2CA (M211V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1610320	NM_002715.4(PPP2CA):c.822A>C (p.Ala274=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3370493	NM_002715.4(PPP2CA):c.817G>A (p.Ala273Thr)	PPP2CA (A208T +1 more)	Single nucleotide variant (missense variant +1 more)	Houge-Janssens syndrome 3	GUncertain significance
Select item 1940143	NM_002715.4(PPP2CA):c.816A>G (p.Gln272=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2810281	NM_002715.4(PPP2CA):c.814C>T (p.Gln272Ter)	PPP2CA (Q207* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2311455	NM_002715.4(PPP2CA):c.811A>G (p.Asn271Asp)	PPP2CA (N271D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 1900498	NM_002715.4(PPP2CA):c.801T>C (p.Tyr267=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2631335	NM_002715.4(PPP2CA):c.796T>C (p.Cys266Arg)	PPP2CA (C201R +1 more)	Single nucleotide variant (missense variant +1 more)	PPP2CA-related disorder	GLikely pathogenic
Select item 620082	NM_002715.4(PPP2CA):c.794A>G (p.Tyr265Cys)	PPP2CA (Y265C +1 more)	Single nucleotide variant (missense variant +1 more)	Houge-Janssens syndrome 3	GLikely pathogenic
Select item 1583772	NM_002715.4(PPP2CA):c.774G>A (p.Thr258=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2188305	NM_002715.4(PPP2CA):c.765T>C (p.Asn255=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1624465	NM_002715.4(PPP2CA):c.756T>C (p.His252=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2966228	NM_002715.4(PPP2CA):c.747C>T (p.Asn249=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1299001	NM_002715.4(PPP2CA):c.744_745del (p.Tyr248_Asn249delinsTer)	PPP2CA	Microsatellite (nonsense +1 more)	not provided	GLikely pathogenic
Select item 2999985	NM_002715.4(PPP2CA):c.739-3dup	PPP2CA	Duplication (intron variant)	not provided	GLikely benign
Select item 2024989	NM_002715.4(PPP2CA):c.739-3C>A	PPP2CA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2071215	NM_002715.4(PPP2CA):c.739-9del	PPP2CA	Deletion (intron variant)	not provided	GBenign
Select item 2778217	NM_002715.4(PPP2CA):c.739-15T>A	PPP2CA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1541081	NM_002715.4(PPP2CA):c.739-19del	PPP2CA	Deletion (intron variant)	not provided	GBenign
Select item 2029904	NM_002715.4(PPP2CA):c.738+8G>A	PPP2CA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 807663	NM_002715.4(PPP2CA):c.724C>G (p.Gln242Glu)	PPP2CA (Q177E +1 more)	Single nucleotide variant (missense variant +1 more)	Houge-Janssens syndrome 3	GPathogenic
Select item 807664	NM_002715.4(PPP2CA):c.722A>G (p.His241Arg)	PPP2CA (H176R +1 more)	Single nucleotide variant (missense variant +1 more)	Houge-Janssens syndrome 3	GLikely pathogenic
Select item 2847383	NM_002715.4(PPP2CA):c.705G>T (p.Thr235=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1669028	NM_002715.4(PPP2CA):c.705G>A (p.Thr235=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1705530	NM_002715.4(PPP2CA):c.696_697insA (p.Gly233fs)	PPP2CA (G168fs +1 more)	Insertion (frameshift variant +1 more)	Houge-Janssens syndrome 3	GLikely pathogenic
Select item 1567390	NM_002715.4(PPP2CA):c.697G>T (p.Gly233Cys)	PPP2CA (G168C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1706189	NM_002715.4(PPP2CA):c.695A>G (p.Asn232Ser)	PPP2CA (N167S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2850906	NM_002715.4(PPP2CA):c.693C>T (p.Ala231=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1644319	NM_002715.4(PPP2CA):c.693C>A (p.Ala231=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2000462	NM_002715.4(PPP2CA):c.690T>C (p.His230=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1565910	NM_002715.4(PPP2CA):c.681A>G (p.Thr227=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1614283	NM_002715.4(PPP2CA):c.678G>A (p.Glu226=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 692146	NM_002715.4(PPP2CA):c.668A>T (p.Asp223Val)	PPP2CA (D158V +1 more)	Single nucleotide variant (missense variant +1 more)	Houge-Janssens syndrome 3	GLikely pathogenic
Select item 2766376	NM_002715.4(PPP2CA):c.667G>T (p.Asp223Tyr)	PPP2CA (D158Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 692145	NM_002715.4(PPP2CA):c.667G>C (p.Asp223His)	PPP2CA (D158H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1928200	NM_002715.4(PPP2CA):c.666A>G (p.Gln222=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2633346	NM_002715.4(PPP2CA):c.654C>A (p.Tyr218Ter)	PPP2CA (Y153* +1 more)	Single nucleotide variant (nonsense +1 more)	PPP2CA-related disorder	GLikely pathogenic
Select item 1656535	NM_002715.4(PPP2CA):c.645A>G (p.Gly215=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3349534	NM_002715.4(PPP2CA):c.643G>A (p.Gly215Arg)	PPP2CA (G150R +1 more)	Single nucleotide variant (missense variant +1 more)	PPP2CA-related disorder	GLikely pathogenic
Select item 70140	NM_002715.4(PPP2CA):c.640C>T (p.Arg214Ter)	PPP2CA (R214* +1 more)	Single nucleotide variant (nonsense +1 more)	Houge-Janssens syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 2977910	NM_002715.4(PPP2CA):c.624T>C (p.Gly208=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2135059	NM_002715.4(PPP2CA):c.621T>G (p.Gly207=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2767100	NM_002715.4(PPP2CA):c.617G>A (p.Arg206His)	PPP2CA (R206H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2767404	NM_002715.4(PPP2CA):c.597G>A (p.Leu199=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2144761	NM_002715.4(PPP2CA):c.591C>T (p.Asp197=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1593371	NM_002715.4(PPP2CA):c.577-5T>C	PPP2CA	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2833753	NM_002715.4(PPP2CA):c.577-9A>G	PPP2CA	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1663388	NM_002715.4(PPP2CA):c.577-15dup	PPP2CA	Duplication (intron variant)	not provided	GLikely benign
Select item 1664822	NM_002715.4(PPP2CA):c.576+19A>G	PPP2CA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1600184	NM_002715.4(PPP2CA):c.576+17A>G	PPP2CA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1907922	NM_002715.4(PPP2CA):c.576+13T>C	PPP2CA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1673398	NM_002715.4(PPP2CA):c.576+11T>C	PPP2CA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1564473	NM_002715.4(PPP2CA):c.576+10T>C	PPP2CA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1679293	NM_002715.4(PPP2CA):c.576+1G>A	PPP2CA	Single nucleotide variant (splice donor variant)	Houge-Janssens syndrome 3	GPathogenic
Select item 2637191	NM_002715.4(PPP2CA):c.575A>C (p.Glu192Ala)	PPP2CA (E127A +1 more)	Single nucleotide variant (missense variant +1 more)	PPP2CA-related disorder	GUncertain significance
Select item 620078	NM_002715.4(PPP2CA):c.572A>G (p.His191Arg)	PPP2CA (H191R +1 more)	Single nucleotide variant (missense variant +1 more)	Houge-Janssens syndrome 3 +1 more	GPathogenic/Likely pathogenic
Select item 1451881	NM_002715.4(PPP2CA):c.558del (p.Gln187fs)	PPP2CA (Q122fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1641703	NM_002715.4(PPP2CA):c.556C>T (p.Leu186=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1521789	NM_002715.4(PPP2CA):c.553C>T (p.Arg185Cys)	PPP2CA (R185C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2758118	NM_002715.4(PPP2CA):c.549T>A (p.Leu183=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3337492	NM_002715.4(PPP2CA):c.548T>C (p.Leu183Pro)	PPP2CA (L118P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2748609	NM_002715.4(PPP2CA):c.545C>T (p.Ala182Val)	PPP2CA (A117V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3368535	NM_002715.4(PPP2CA):c.539T>G (p.Ile180Ser)	PPP2CA (I115S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2702663	NM_002715.4(PPP2CA):c.537T>G (p.His179Gln)	PPP2CA (H114Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2709526	NM_002715.4(PPP2CA):c.519T>G (p.Ser173=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1508428	NM_002715.4(PPP2CA):c.513G>A (p.Ser171=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2704711	NM_002715.4(PPP2CA):c.504T>G (p.Gly168=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2834672	NM_002715.4(PPP2CA):c.500A>G (p.His167Arg)	PPP2CA (H102R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1597344	NM_002715.4(PPP2CA):c.492C>T (p.Phe164=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1710068	NM_002715.4(PPP2CA):c.491del (p.Phe164fs)	PPP2CA (F164fs +1 more)	Deletion (frameshift variant +1 more)	Houge-Janssens syndrome 3	GLikely pathogenic
Select item 2830715	NM_002715.4(PPP2CA):c.487-5_487-4dup	PPP2CA	Duplication (intron variant)	not provided	GLikely benign

<< First< Prev

Page of 3