PPP3CB-AS1[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 58745	GRCh38/hg38 10q22.1-22.2(chr10:72720628-75612374)x1	LOC130004132, LOC130004133 +150 more	Copy number loss	See cases	GPathogenic
Select item 2536603	NM_021132.4(PPP3CB):c.64G>A (p.Gly22Arg)	LOC130004079, PPP3CB +1 more (G22R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3424176	NM_021132.4(PPP3CB):c.16C>G (p.Pro6Ala)	LOC130004079, PPP3CB +1 more (P6A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3424178	NM_021132.4(PPP3CB):c.7G>T (p.Ala3Ser)	LOC130004079, PPP3CB +1 more (A3S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553736	NM_001391956.1(USP54):c.4993C>G (p.Leu1665Val)	PPP3CB-AS1, USP54 (L1603V +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3467269	NM_001391956.1(USP54):c.4979G>A (p.Gly1660Glu)	PPP3CB-AS1, USP54 (G1556E +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2293837	NM_001391956.1(USP54):c.4880G>A (p.Arg1627Gln)	PPP3CB-AS1, USP54 (R1523Q +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331637	NM_001391956.1(USP54):c.4876T>C (p.Ser1626Pro)	PPP3CB-AS1, USP54 (S1569P +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187797	NM_001391956.1(USP54):c.4831C>A (p.His1611Asn)	PPP3CB-AS1, USP54 (H1507N +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328834	NM_001391956.1(USP54):c.4741G>A (p.Val1581Ile)	PPP3CB-AS1, USP54 (V1484I +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522268	NM_001391956.1(USP54):c.4732G>A (p.Gly1578Ser)	PPP3CB-AS1, USP54 (G1481S +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187796	NM_001391956.1(USP54):c.4731G>T (p.Lys1577Asn)	PPP3CB-AS1, USP54 (K1599N +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540352	NM_001391956.1(USP54):c.4717C>T (p.Pro1573Ser)	PPP3CB-AS1, USP54 (P1423S +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373340	NM_001391956.1(USP54):c.4604G>A (p.Arg1535His)	PPP3CB-AS1, USP54 (R1431H +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3467271	NM_001391956.1(USP54):c.4603C>T (p.Arg1535Cys)	PPP3CB-AS1, USP54 (R1385C +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3467262	NM_001391956.1(USP54):c.4555G>A (p.Gly1519Arg)	PPP3CB-AS1, USP54 (G1541R +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555025	NM_001391956.1(USP54):c.4546A>G (p.Thr1516Ala)	PPP3CB-AS1, USP54 (T1412A +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273490	NM_001391956.1(USP54):c.4492C>T (p.Pro1498Ser)	PPP3CB-AS1, USP54 (P1436S +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331640	NM_001391956.1(USP54):c.4409G>A (p.Gly1470Asp)	PPP3CB-AS1, USP54 (G1413D +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492391	NM_001391956.1(USP54):c.4390C>G (p.Pro1464Ala)	PPP3CB-AS1, USP54 (P1417A +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3467265	NM_001391956.1(USP54):c.4355G>A (p.Cys1452Tyr)	PPP3CB-AS1, USP54 (C1302Y +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3038467	NM_001391956.1(USP54):c.4351C>T (p.Arg1451Cys)	PPP3CB-AS1, USP54 (R1301C +7 more)	Single nucleotide variant (missense variant +1 more)	USP54-related disorder	GLikely benign
Select item 3331635	NM_001391956.1(USP54):c.4345G>A (p.Gly1449Arg)	PPP3CB-AS1, USP54 (G1392R +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331649	NM_001391956.1(USP54):c.4309T>A (p.Phe1437Ile)	PPP3CB-AS1, USP54 (F1287I +5 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2217598	NM_001391956.1(USP54):c.4306A>G (p.Ser1436Gly)	PPP3CB-AS1, USP54 (S1458G +5 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3187795	NM_001391956.1(USP54):c.4292C>T (p.Pro1431Leu)	PPP3CB-AS1, USP54 (P1453L +5 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2280948	NM_001391956.1(USP54):c.4267G>A (p.Val1423Ile)	PPP3CB-AS1, USP54 (V1273I +5 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2459871	NM_001391956.1(USP54):c.4249C>T (p.Arg1417Cys)	PPP3CB-AS1, USP54 (R1360C +5 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GUncertain significance
Select item 2216409	NM_001391956.1(USP54):c.4241G>A (p.Arg1414His)	PPP3CB-AS1, USP54 (R1352H +5 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3467255	NM_001391956.1(USP54):c.4238G>A (p.Arg1413His)	PPP3CB-AS1, USP54 (R1263H +5 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2384265	NM_001391956.1(USP54):c.4217A>G (p.Gln1406Arg)	PPP3CB-AS1, USP54 (Q1309R +5 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3187793	NM_001391956.1(USP54):c.4213G>A (p.Glu1405Lys)	PPP3CB-AS1, USP54 (E1255K +5 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3467256	NM_001391956.1(USP54):c.4210G>A (p.Asp1404Asn)	PPP3CB-AS1, USP54 (D1307N +5 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3044550	NM_001391956.1(USP54):c.4183C>T (p.Arg1395Ter)	PPP3CB-AS1, USP54 (R1245* +5 more)	Single nucleotide variant (non-coding transcript variant +2 more)	USP54-related disorder	GLikely benign
Select item 3187792	NM_001391956.1(USP54):c.4087G>C (p.Ala1363Pro)	PPP3CB-AS1, USP54 (A1385P +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3187791	NM_001391956.1(USP54):c.4084T>A (p.Ser1362Thr)	PPP3CB-AS1, USP54 (S1212T +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2468691	NM_001391956.1(USP54):c.4082A>G (p.His1361Arg)	PPP3CB-AS1, USP54 (H1211R +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance

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Items: 42