5500[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	ABHD1, ACP1 +1047 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	ABCG5, ABCG8 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 155287	GRCh38/hg38 2p23.2(chr2:28557445-29437643)x3	ALK, CLIP4 +37 more	Copy number gain	See cases	GUncertain significance
Select item 154217	GRCh38/hg38 2p23.2(chr2:28561270-29446956)x3	ALK, CLIP4 +37 more	Copy number gain	See cases	GUncertain significance
Select item 149082	GRCh38/hg38 2p23.2(chr2:28574111-29442195)x3	ALK, CLIP4 +35 more	Copy number gain	See cases	GUncertain significance
Select item 152846	GRCh38/hg38 2p23.2(chr2:28689225-28954146)x3	LOC100505774, LOC129388837 +14 more	Copy number gain	See cases	GUncertain significance
Select item 1186254	NC_000002.12:g.28751425T>C	LOC129933406, PPP1CB	Single nucleotide variant	not provided	GLikely benign
Select item 1217960	NC_000002.12:g.28751472C>G	PPP1CB	Single nucleotide variant	not provided	GLikely benign
Select item 1261656	NC_000002.12:g.28751600T>C	LOC129933407, PPP1CB	Single nucleotide variant	not provided	GBenign
Select item 1191835	NM_206876.2(PPP1CB):c.-244A>C	LOC129933407, PPP1CB	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1222948	NM_206876.2(PPP1CB):c.-183C>G	LOC129933407, PPP1CB	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1182105	NM_206876.2(PPP1CB):c.-151C>G	PPP1CB, LOC129933407	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1265254	NM_002709.2(PPP1CB):c.-325G>A	PPP1CB	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1302451	NM_002709.2(PPP1CB):c.-308G>A	PPP1CB	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1203931	NM_002709.3(PPP1CB):c.-94C>T	PPP1CB	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1205052	NM_002709.3(PPP1CB):c.-23G>A	PPP1CB	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 2650780	NM_002709.3(PPP1CB):c.-1G>C	PPP1CB	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1470541	NM_002709.3(PPP1CB):c.5C>T (p.Ala2Val)	PPP1CB (A2V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 98363	NM_002709.3(PPP1CB):c.6G>A (p.Ala2=)	PPP1CB	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 98364	NM_002709.3(PPP1CB):c.10G>A (p.Gly4Arg)	PPP1CB (G4R)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 1531970	NM_002709.3(PPP1CB):c.12G>A (p.Gly4=)	PPP1CB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008187	NM_002709.3(PPP1CB):c.13G>C (p.Glu5Gln)	PPP1CB (E5Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1721794	NM_002709.3(PPP1CB):c.16C>G (p.Leu6Val)	PPP1CB (L6V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2777738	NM_002709.3(PPP1CB):c.20A>C (p.Asn7Thr)	PPP1CB (N7T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1548574	NM_002709.3(PPP1CB):c.21C>T (p.Asn7=)	PPP1CB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1353926	NM_002709.3(PPP1CB):c.21C>A (p.Asn7Lys)	PPP1CB (N7K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 774811	NM_002709.3(PPP1CB):c.27C>T (p.Asp9=)	PPP1CB	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1727612	NM_002709.3(PPP1CB):c.30C>T (p.Ser10=)	PPP1CB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 981574	NM_002709.3(PPP1CB):c.31C>G (p.Leu11Val)	PPP1CB (L11V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1731018	NM_002709.3(PPP1CB):c.33C>T (p.Leu11=)	PPP1CB	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2125766	NM_002709.3(PPP1CB):c.38C>T (p.Thr13Ile)	PPP1CB (T13I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3230211	NM_002709.3(PPP1CB):c.39C>T (p.Thr13=)	PPP1CB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3038158	NM_002709.3(PPP1CB):c.42G>C (p.Arg14=)	PPP1CB	Single nucleotide variant (synonymous variant)	PPP1CB-related disorder	GLikely benign
Select item 1646059	NM_002709.3(PPP1CB):c.43C>T (p.Leu15=)	PPP1CB	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2760088	NM_002709.3(PPP1CB):c.46C>T (p.Leu16=)	PPP1CB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1967609	NM_002709.3(PPP1CB):c.52+3G>A	PPP1CB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2792571	NM_002709.3(PPP1CB):c.52+8C>T	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1643708	NM_002709.3(PPP1CB):c.52+10C>T	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1539260	NM_002709.3(PPP1CB):c.52+11G>C	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1658535	NM_002709.3(PPP1CB):c.52+14T>G	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200777	NM_002709.3(PPP1CB):c.52+15G>T	PPP1CB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1924950	NM_002709.3(PPP1CB):c.52+17C>G	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1663800	NM_002709.3(PPP1CB):c.52+19G>A	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1250409	NM_002709.3(PPP1CB):c.52+65G>C	PPP1CB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203158	NM_002709.3(PPP1CB):c.52+220C>T	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203511	NM_002709.3(PPP1CB):c.52+282G>A	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1618872	NM_002709.3(PPP1CB):c.53-17_53-13del	PPP1CB	Deletion (intron variant)	not provided	GLikely benign
Select item 1654931	NM_002709.3(PPP1CB):c.53-19T>G	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2765455	NM_002709.3(PPP1CB):c.53-18T>G	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1950061	NM_002709.3(PPP1CB):c.53-17T>A	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986836	NM_002709.3(PPP1CB):c.53-16A>G	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2830612	NM_002709.3(PPP1CB):c.53-11T>C	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011103	NM_002709.3(PPP1CB):c.53-10C>T	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1614175	NM_002709.3(PPP1CB):c.53-9G>T	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 747303	NM_002709.3(PPP1CB):c.53-9G>A	PPP1CB	Single nucleotide variant (intron variant)	PPP1CB-related disorder +2 more	GBenign/Likely benign
Select item 2781941	NM_002709.3(PPP1CB):c.53-5G>A	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1574703	NM_002709.3(PPP1CB):c.53-5G>T	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2788539	NM_002709.3(PPP1CB):c.63T>C (p.Cys21=)	PPP1CB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2633494	NM_002709.3(PPP1CB):c.71G>T (p.Gly24Val)	PPP1CB (G24V)	Single nucleotide variant (missense variant)	PPP1CB-related disorder	GUncertain significance
Select item 1974086	NM_002709.3(PPP1CB):c.74A>G (p.Lys25Arg)	PPP1CB (K25R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 845288	NM_002709.3(PPP1CB):c.79G>A (p.Val27Met)	PPP1CB (V27M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2753257	NM_002709.3(PPP1CB):c.93A>G (p.Glu31=)	PPP1CB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1050446	NM_002709.3(PPP1CB):c.94G>A (p.Ala32Thr)	PPP1CB (A32T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1522087	NM_002709.3(PPP1CB):c.95C>T (p.Ala32Val)	PPP1CB (A32V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310052	NM_002709.3(PPP1CB):c.102T>A (p.Val34=)	PPP1CB	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2650781	NM_002709.3(PPP1CB):c.104G>A (p.Arg35Gln)	PPP1CB (R35Q)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1711495	NM_002709.3(PPP1CB):c.113_116dup (p.Ile39fs)	PPP1CB (I39fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 98365	NM_002709.3(PPP1CB):c.114T>C (p.Cys38=)	PPP1CB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2778110	NM_002709.3(PPP1CB):c.123T>C (p.Ser41=)	PPP1CB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1758041	NM_002709.3(PPP1CB):c.123T>A (p.Ser41=)	PPP1CB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2650782	NM_002709.3(PPP1CB):c.126G>A (p.Arg42=)	PPP1CB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1771010	NM_002709.3(PPP1CB):c.136C>T (p.Leu46Phe)	PPP1CB (L46F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2842833	NM_002709.3(PPP1CB):c.139A>G (p.Ser47Gly)	PPP1CB (S47G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1488554	NM_002709.3(PPP1CB):c.141C>A (p.Ser47Arg)	PPP1CB (S47R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2637301	NM_002709.3(PPP1CB):c.142C>G (p.Gln48Glu)	PPP1CB (Q48E)	Single nucleotide variant (missense variant)	PPP1CB-related disorder	GUncertain significance
Select item 2504232	NM_002709.3(PPP1CB):c.145C>A (p.Pro49Thr)	PPP1CB (P49T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 254648	NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg)	PPP1CB (P49R)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 2991641	NM_002709.3(PPP1CB):c.153T>G (p.Leu51=)	PPP1CB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1550989	NM_002709.3(PPP1CB):c.154T>C (p.Leu52=)	PPP1CB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2119675	NM_002709.3(PPP1CB):c.156G>A (p.Leu52=)	PPP1CB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 427633	NM_002709.3(PPP1CB):c.166G>C (p.Ala56Pro)	PPP1CB (A56P)	Single nucleotide variant (missense variant)	Noonan syndrome-like disorder with loose anagen hair 2	GPathogenic
Select item 1979162	NM_002709.3(PPP1CB):c.171G>A (p.Pro57=)	PPP1CB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1583770	NM_002709.3(PPP1CB):c.177A>G (p.Lys59=)	PPP1CB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1970804	NM_002709.3(PPP1CB):c.180T>C (p.Ile60=)	PPP1CB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1978808	NM_002709.3(PPP1CB):c.184+4T>C	PPP1CB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2992472	NM_002709.3(PPP1CB):c.184+13G>A	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1952591	NM_002709.3(PPP1CB):c.184+15A>G	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2790829	NM_002709.3(PPP1CB):c.184+20T>A	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192945	NM_002709.3(PPP1CB):c.184+95A>G	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1180175	NM_002709.3(PPP1CB):c.184+146_184+147del	PPP1CB	Deletion (intron variant)	not provided	GLikely benign
Select item 1190849	NM_002709.3(PPP1CB):c.184+330A>C	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211848	NM_002709.3(PPP1CB):c.185-160C>T	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178704	NM_002709.3(PPP1CB):c.185-144C>T	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2878399	NM_002709.3(PPP1CB):c.185-18G>T	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2122497	NM_002709.3(PPP1CB):c.185-15T>C	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1475438	NM_002709.3(PPP1CB):c.185-12_185-9del	PPP1CB	Deletion (intron variant)	not provided	GLikely benign
Select item 2109569	NM_002709.3(PPP1CB):c.185-14C>T	PPP1CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2746919	NM_002709.3(PPP1CB):c.185-11del	PPP1CB	Deletion (intron variant)	not provided	GLikely benign

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