23236[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	LOC130065344, LOC130065345 +455 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	ADAM33, ADISSP +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	LOC130065324, LOC130065325 +581 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 154850	GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3	LOC130065322, LOC130065323 +300 more	Copy number gain	See cases	GPathogenic
Select item 148980	GRCh38/hg38 20p12.3(chr20:6186076-8804328)x3	BMP2, CASC20 +34 more	Copy number gain	See cases	GUncertain significance
Select item 57236	GRCh38/hg38 20p12.3(chr20:6336607-8577546)x1	BMP2, CASC20 +30 more	Copy number loss	See cases	GPathogenic
Select item 145966	GRCh38/hg38 20p12.3-12.1(chr20:6617695-13392559)x1	ANKEF1, BMP2 +109 more	Copy number loss	See cases	GPathogenic
Select item 56985	GRCh38/hg38 20p12.3(chr20:7123110-8577546)x3	HAO1, LINC01428 +19 more	Copy number gain	See cases	GPathogenic
Select item 154280	GRCh38/hg38 20p12.3(chr20:7125410-8606171)x3	HAO1, LINC01428 +20 more	Copy number gain	See cases	GUncertain significance
Select item 58946	GRCh38/hg38 20p12.3-12.2(chr20:7566644-11028694)x1	ANKEF1, HAO1 +71 more	Copy number loss	See cases	GPathogenic
Select item 897290	NM_015192.4(PLCB1):c.-330C>T	PLCB1	Single nucleotide variant (5 prime UTR variant)	Developmental and epileptic encephalopathy, 12 +1 more	GConflicting classifications of pathogenicity
Select item 897291	NM_015192.4(PLCB1):c.-311T>G	PLCB1	Single nucleotide variant (5 prime UTR variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 897292	NM_015192.4(PLCB1):c.-296A>G	LOC130065408, PLCB1	Single nucleotide variant (5 prime UTR variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 897293	NM_015192.4(PLCB1):c.-222C>G	LOC130065408, PLCB1	Single nucleotide variant (5 prime UTR variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 897294	NM_015192.4(PLCB1):c.-170C>A	LOC130065408, PLCB1	Single nucleotide variant (5 prime UTR variant)	Developmental and epileptic encephalopathy, 12 +1 more	GBenign/Likely benign
Select item 897295	NM_015192.4(PLCB1):c.-168G>A	LOC130065408, PLCB1	Single nucleotide variant (5 prime UTR variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 339493	NM_015192.4(PLCB1):c.-1G>C	PLCB1	Single nucleotide variant (5 prime UTR variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 1157807	NM_015192.4(PLCB1):c.6C>T (p.Ala2=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 1150035	NM_015192.4(PLCB1):c.6C>G (p.Ala2=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 1568170	NM_015192.4(PLCB1):c.12T>C (p.Ala4=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2245085	NM_015192.4(PLCB1):c.13C>G (p.Gln5Glu)	PLCB1 (Q5E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 500992	NM_015192.4(PLCB1):c.15A>T (p.Gln5His)	PLCB1 (Q5H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1012476	NM_015192.4(PLCB1):c.18C>T (p.Pro6=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12 +1 more	GLikely benign
Select item 2605847	NM_015192.4(PLCB1):c.20G>T (p.Gly7Val)	PLCB1 (G7V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 129906	NM_015192.4(PLCB1):c.21A>C (p.Gly7=)	PLCB1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 597711	NM_015192.4(PLCB1):c.22G>T (p.Val8Leu)	PLCB1 (V8L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 410075	NM_015192.4(PLCB1):c.28G>T (p.Ala10Ser)	PLCB1 (A10S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1441094	NM_015192.4(PLCB1):c.29C>T (p.Ala10Val)	PLCB1 (A10V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 1400576	NM_015192.4(PLCB1):c.29C>G (p.Ala10Gly)	PLCB1 (A10G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 898461	NM_015192.4(PLCB1):c.31T>G (p.Leu11Val)	PLCB1 (L11V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12 +1 more	GUncertain significance
Select item 698239	NM_015192.4(PLCB1):c.42G>A (p.Lys14=)	PLCB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1138759	NM_015192.4(PLCB1):c.45C>A (p.Pro15=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 761418	NM_015192.4(PLCB1):c.45C>G (p.Pro15=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 699241	NM_015192.4(PLCB1):c.54G>A (p.Val18=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 1359703	NM_015192.4(PLCB1):c.62G>A (p.Ser21Asn)	PLCB1 (S21N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 1618601	NM_015192.4(PLCB1):c.63C>T (p.Ser21=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 846475	NM_015192.4(PLCB1):c.67A>G (p.Lys23Glu)	PLCB1 (K23E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GBenign
Select item 3341306	NM_015192.4(PLCB1):c.73G>A (p.Gly25Ser)	PLCB1 (G25S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 193380	NM_015192.4(PLCB1):c.73G>C (p.Gly25Arg)	PLCB1 (G25R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 799043	NM_015192.4(PLCB1):c.78C>A (p.Thr26=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 853032	NM_015192.4(PLCB1):c.89A>G (p.Lys30Arg)	PLCB1 (K30R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 749463	NM_015192.4(PLCB1):c.90G>A (p.Lys30=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 129917	NM_015192.4(PLCB1):c.99+8T>C	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12 +3 more	GBenign/Likely benign
Select item 1594926	NM_015192.4(PLCB1):c.99+12G>C	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 1645177	NM_015192.4(PLCB1):c.99+14C>T	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 1533069	NM_015192.4(PLCB1):c.99+15G>A	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2990517	NM_015192.4(PLCB1):c.99+19C>T	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 1655501	NM_015192.4(PLCB1):c.99+20G>A	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 1254526	NM_015192.4(PLCB1):c.100-283G>A	PLCB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1573445	NM_015192.4(PLCB1):c.100-17T>C	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 1148105	NM_015192.4(PLCB1):c.100-5del	PLCB1	Deletion (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 129899	NM_015192.4(PLCB1):c.102C>T (p.Asp34=)	PLCB1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 968346	NM_015192.4(PLCB1):c.106A>G (p.Thr36Ala)	PLCB1 (T36A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 2346667	NM_015192.4(PLCB1):c.107C>G (p.Thr36Ser)	PLCB1 (T36S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1936099	NM_015192.4(PLCB1):c.113T>C (p.Val38Ala)	PLCB1 (V38A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 1099065	NM_015192.4(PLCB1):c.114T>C (p.Val38=)	PLCB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 567284	NM_015192.4(PLCB1):c.116C>T (p.Thr39Ile)	PLCB1 (T39I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 1561887	NM_015192.4(PLCB1):c.117T>C (p.Thr39=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 538881	NM_015192.4(PLCB1):c.121A>G (p.Ile41Val)	PLCB1 (I41V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 1100631	NM_015192.4(PLCB1):c.129G>A (p.Leu43=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 748122	NM_015192.4(PLCB1):c.138C>T (p.Asp46=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2084938	NM_015192.4(PLCB1):c.159C>T (p.Tyr53=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 1400830	NM_015192.4(PLCB1):c.171A>C (p.Gln57His)	PLCB1 (Q57H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 1314416	NM_015192.4(PLCB1):c.175A>G (p.Lys59Glu)	PLCB1 (K59E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2179763	NM_015192.4(PLCB1):c.177+8_177+13del	PLCB1	Deletion (intron variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 944480	NM_015192.4(PLCB1):c.177+8A>G	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 1578115	NM_015192.4(PLCB1):c.177+10G>A	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2801335	NM_015192.4(PLCB1):c.177+13G>A	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 2006101	NM_015192.4(PLCB1):c.177+16T>C	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 152504	GRCh38/hg38 20p12.3(chr20:8215937-8276043)x1	PLCB1, PLCB1-IT1	Copy number loss	See cases	GBenign
Select item 152105	GRCh38/hg38 20p12.3(chr20:8252819-8577546)x1	LOC126862967, PLCB1	Copy number loss	See cases	GUncertain significance
Select item 1621671	NM_015192.4(PLCB1):c.178-16C>T	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 339494	NM_015192.4(PLCB1):c.178-15G>A	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12 +2 more	GBenign/Likely benign
Select item 1351831	NM_015192.4(PLCB1):c.178-3C>T	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 2016582	NM_015192.4(PLCB1):c.178-2A>G	PLCB1	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy, 12	GLikely pathogenic
Select item 699736	NM_015192.4(PLCB1):c.186G>A (p.Glu62=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 1576743	NM_015192.4(PLCB1):c.189A>G (p.Leu63=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 1399015	NM_015192.4(PLCB1):c.196C>T (p.Leu66Phe)	PLCB1 (L66F)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 1783939	NM_015192.4(PLCB1):c.198C>T (p.Leu66=)	PLCB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 837498	NM_015192.4(PLCB1):c.199A>C (p.Ser67Arg)	PLCB1 (S67R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 1450974	NM_015192.4(PLCB1):c.200G>C (p.Ser67Thr)	PLCB1 (S67T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 856318	NM_015192.4(PLCB1):c.200G>A (p.Ser67Asn)	PLCB1 (S67N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 2692993	NM_015192.4(PLCB1):c.204T>G (p.Leu68=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 1714018	NM_015192.4(PLCB1):c.209A>G (p.Lys70Arg)	PLCB1 (K70R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 1359472	NM_015192.4(PLCB1):c.214G>A (p.Ala72Thr)	PLCB1 (A72T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 2141053	NM_015192.4(PLCB1):c.223G>A (p.Gly75Arg)	PLCB1 (G75R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 700892	NM_015192.4(PLCB1):c.231C>T (p.His77=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 840530	NM_015192.4(PLCB1):c.232G>A (p.Ala78Thr)	PLCB1 (A78T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1424807	NM_015192.4(PLCB1):c.242C>T (p.Pro81Leu)	PLCB1 (P81L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 1474735	NM_015192.4(PLCB1):c.245A>T (p.Lys82Met)	PLCB1 (K82M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 1586767	NM_015192.4(PLCB1):c.246+9T>C	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 1659516	NM_015192.4(PLCB1):c.246+12A>G	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GBenign
Select item 2019855	NM_015192.4(PLCB1):c.246+18del	PLCB1	Deletion (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 1955891	NM_015192.4(PLCB1):c.246+19T>G	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign

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