5521[geneid] - ClinVar

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Items: 83

	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 150685	GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3	ABLIM3, ADRB2 +313 more	Copy number gain	See cases	GPathogenic
Select item 147500	GRCh38/hg38 5q32(chr5:145197355-148541511)x1	C5orf46, CTB-99A3.1 +82 more	Copy number loss	See cases	GPathogenic
Select item 1711732	NM_181675.4(PPP2R2B):c.1280T>C (p.Ile427Thr)	CTB-99A3.1, PPP2R2B (I407T +6 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay	GUncertain significance
Select item 2571233	NM_181675.4(PPP2R2B):c.1218C>T (p.Val406=)	CTB-99A3.1, PPP2R2B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2512379	NM_181675.4(PPP2R2B):c.1213A>G (p.Ser405Gly)	CTB-99A3.1, PPP2R2B (S394G +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 809812	NM_181675.4(PPP2R2B):c.1213A>C (p.Ser405Arg)	CTB-99A3.1, PPP2R2B (S411R +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 392571	NM_181675.4(PPP2R2B):c.1190G>C (p.Gly397Ala)	PPP2R2B, CTB-99A3.1 (G386A +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1879634	NM_181675.4(PPP2R2B):c.1185G>T (p.Val395=)	CTB-99A3.1, PPP2R2B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2371456	NM_181675.4(PPP2R2B):c.1183G>T (p.Val395Leu)	CTB-99A3.1, PPP2R2B (V395L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525959	NM_181675.4(PPP2R2B):c.1154G>A (p.Arg385Gln)	CTB-99A3.1, PPP2R2B (R391Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2662862	NM_181675.4(PPP2R2B):c.1114G>C (p.Asp372His)	CTB-99A3.1, PPP2R2B (D352H +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2496128	NM_181675.4(PPP2R2B):c.1046C>T (p.Ser349Leu)	CTB-99A3.1, PPP2R2B (S349L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3372675	NM_181675.4(PPP2R2B):c.1030T>A (p.Cys344Ser)	CTB-99A3.1, PPP2R2B (C324S +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723101	NM_181675.4(PPP2R2B):c.964C>A (p.His322Asn)	CTB-99A3.1, PPP2R2B (H302N +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2539298	NM_181675.4(PPP2R2B):c.941G>A (p.Arg314His)	CTB-99A3.1, PPP2R2B (R294H +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217763	NM_181675.4(PPP2R2B):c.940C>T (p.Arg314Cys)	CTB-99A3.1, PPP2R2B (R317C +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1319957	NM_181675.4(PPP2R2B):c.930C>A (p.Asn310Lys)	CTB-99A3.1, PPP2R2B (N290K +6 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 3234382	NM_181675.4(PPP2R2B):c.910G>A (p.Val304Ile)	CTB-99A3.1, PPP2R2B (V284I +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2581742	NM_181675.4(PPP2R2B):c.908C>T (p.Thr303Ile)	CTB-99A3.1, PPP2R2B (T283I +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2661939	NM_181675.4(PPP2R2B):c.820A>G (p.Arg274Gly)	CTB-99A3.1, PPP2R2B (R254G +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2477461	NM_181675.4(PPP2R2B):c.812C>G (p.Pro271Arg)	CTB-99A3.1, PPP2R2B (P271R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303283	NM_181675.4(PPP2R2B):c.803C>T (p.Pro268Leu)	CTB-99A3.1, PPP2R2B (P248L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1712310	NM_181675.4(PPP2R2B):c.737C>A (p.Thr246Lys)	PPP2R2B (T226K +6 more)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 12	GUncertain significance
Select item 624067	NM_181675.4(PPP2R2B):c.707A>G (p.Asn236Ser)	PPP2R2B (N225S +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3048492	NM_181675.4(PPP2R2B):c.665C>T (p.Thr222Met)	PPP2R2B (T202M +6 more)	Single nucleotide variant (missense variant +1 more)	PPP2R2B-related disorder	GLikely benign
Select item 2525627	NM_181675.4(PPP2R2B):c.614A>G (p.Asn205Ser)	PPP2R2B (N194S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1049044	NM_181675.4(PPP2R2B):c.571G>T (p.Ala191Ser)	PPP2R2B (A171S +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 3033720	NM_181675.4(PPP2R2B):c.549C>T (p.Ser183=)	PPP2R2B	Single nucleotide variant (synonymous variant +1 more)	PPP2R2B-related disorder	GLikely benign
Select item 2361830	NM_181675.4(PPP2R2B):c.499G>A (p.Val167Ile)	PPP2R2B (V225I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239637	NM_181675.4(PPP2R2B):c.490C>T (p.Pro164Ser)	PPP2R2B (P222S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214160	NM_181675.4(PPP2R2B):c.488C>G (p.Thr163Ser)	PPP2R2B (T152S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1702552	NM_181675.4(PPP2R2B):c.447+1G>A	PPP2R2B	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2503290	NM_181675.4(PPP2R2B):c.446G>C (p.Arg149Pro)	PPP2R2B (R129P +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2498986	NM_181675.4(PPP2R2B):c.446G>A (p.Arg149Gln)	PPP2R2B (R129Q +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3252958	NM_181675.4(PPP2R2B):c.434T>G (p.Ile145Ser)	PPP2R2B (I125S +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2572696	NM_181675.4(PPP2R2B):c.413G>A (p.Arg138Gln)	PPP2R2B (R118Q +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2589453	NM_181675.4(PPP2R2B):c.364G>A (p.Glu122Lys)	PPP2R2B (E111K +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655886	NM_181675.4(PPP2R2B):c.335-6C>T	PPP2R2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272737	NM_181675.4(PPP2R2B):c.334+16G>A	PPP2R2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 423550	NM_181675.4(PPP2R2B):c.328A>G (p.Thr110Ala)	PPP2R2B (T99A +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2528415	NM_181675.4(PPP2R2B):c.212G>T (p.Ser71Ile)	PPP2R2B (S60I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1313011	NM_181675.4(PPP2R2B):c.196G>T (p.Glu66Ter)	PPP2R2B (E124* +6 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2287865	NM_181675.4(PPP2R2B):c.175A>T (p.Asn59Tyr)	PPP2R2B (N39Y +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1711615	NM_181675.4(PPP2R2B):c.150A>G (p.Ile50Met)	PPP2R2B (I108M +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3367589	NM_181675.4(PPP2R2B):c.139C>G (p.Arg47Gly)	PPP2R2B (R105G +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252913	NM_181675.4(PPP2R2B):c.133G>C (p.Gly45Arg)	PPP2R2B (G103R +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 548555	NM_181675.4(PPP2R2B):c.119C>T (p.Ala40Val)	PPP2R2B (A29V +6 more)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 12	GUncertain significance
Select item 148987	GRCh38/hg38 5q32(chr5:146799840-147408423)x3	DPYSL3, LOC108660405 +7 more	Copy number gain	See cases	GLikely benign
Select item 1335601	NM_181675.4(PPP2R2B):c.70+21510G>A	PPP2R2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2498987	NM_181675.4(PPP2R2B):c.-84C>G	PPP2R2B (L31V +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely benign
Select item 252801	NM_181675.4(PPP2R2B):c.-84del	PPP2R2B (L31fs +1 more)	Deletion (frameshift variant +3 more)	not specified	GUncertain significance
Select item 3058567	NM_181675.4(PPP2R2B):c.-248G>A	PPP2R2B	Single nucleotide variant (5 prime UTR variant +2 more)	PPP2R2B-related disorder	GLikely benign
Select item 3059028	NM_181675.3(PPP2R2B):c.40_57dup18	LOC108660405, PPP2R2B	Microsatellite (intron variant)	PPP2R2B-related disorder	GBenign
Select item 3037533	NM_181675.3(PPP2R2B):c.34_57dup24	LOC108660405, PPP2R2B	Microsatellite (intron variant)	PPP2R2B-related disorder	GBenign
Select item 2655889	NM_181674.3(PPP2R2B):c.75-562AGC[19]	LOC108660405, PPP2R2B	Microsatellite (intron variant)	not provided	GBenign
Select item 2655888	NM_181674.3(PPP2R2B):c.75-562AGC[12]	LOC108660405, PPP2R2B	Microsatellite (intron variant)	not provided	GBenign
Select item 2655887	NM_181674.3(PPP2R2B):c.75-562AGC[11]	LOC108660405, PPP2R2B	Microsatellite (intron variant)	not provided	GBenign
Select item 445389	NM_181674.3(PPP2R2B):c.75-562AGC[17]	LOC108660405, PPP2R2B	Microsatellite (intron variant)	not provided	GLikely benign
Select item 218860	NM_181675.3(PPP2R2B):c.27[15] (p.Ser10[15])	PPP2R2B, LOC108660405	Microsatellite (intron variant)	not specified	GUncertain significance
Select item 3056407	NM_181674.3(PPP2R2B):c.75-562AGC[9]	LOC108660405, PPP2R2B	Microsatellite (intron variant)	PPP2R2B-related disorder	GBenign
Select item 1050601	NM_181674.3(PPP2R2B):c.75-562AGC[4]	LOC108660405, PPP2R2B	Microsatellite (intron variant)	not provided	GBenign
Select item 5614	NM_181675.3(PPP2R2B):c.27CAG[(7_28)[ (p.Ser10[(7-28)])	LOC108660405, PPP2R2B	Microsatellite	Spinocerebellar ataxia type 12	GBenign
Select item 809813	NM_181677.2(PPP2R2B):c.-62-20439G>C	PPP2R2B (Q20H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1701488	NM_181677.2(PPP2R2B):c.-130A>T	PPP2R2B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3059331	NM_001271899.1(PPP2R2B):c.19A>T (p.Thr7Ser)	PPP2R2B (T7S)	Single nucleotide variant (missense variant +1 more)	PPP2R2B-related disorder	GBenign
Select item 3062812	GRCh37/hg19 5q31.3-32(chr5:141566629-147240595)x1	ARHGAP26, DPYSL3 +19 more	Copy number loss	not specified	GPathogenic
Select item 2685175	GRCh37/hg19 5q32(chr5:146046054-147156861)x1	DPYSL3, JAKMIP2 +2 more	Copy number loss	not provided	GUncertain significance
Select item 1340599	GRCh37/hg19 5q32(chr5:146455303-146565410)x1	PPP2R2B	Copy number loss	not provided	GUncertain significance
Select item 688915	GRCh37/hg19 5q32(chr5:146169510-146808540)x3	DPYSL3, PPP2R2B +1 more	Copy number gain	not provided	GUncertain significance
Select item 687529	GRCh37/hg19 5q31.3-32(chr5:140424333-148985999)x3	ABLIM3, ADRB2 +92 more	Copy number gain	not provided	GUncertain significance
Select item 685599	GRCh37/hg19 5q32(chr5:146459722-146563206)x1	PPP2R2B	Copy number loss	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 635929	Single allele	SH3RF2, TCERG1 +8 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	AFF4, C5orf46 +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 442272	GRCh37/hg19 5q31.3-32(chr5:141113273-149154835)x1	ABLIM3, ADRB2 +48 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

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Items: 83