Related gene-specific medical variations for Gene (Select 23236) - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248296	NC_000020.10:g.(?_8661338)_(8678351_?)del	PLCB1	Deletion	Developmental and epileptic encephalopathy, 12	GLikely pathogenic
Select item 3248295	NC_000020.10:g.(?_8665559)_(8770928_?)dup	PLCB1	Duplication	Developmental and epileptic encephalopathy, 12	GLikely pathogenic
Select item 3248294	NC_000020.10:g.(?_8113299)_(8352117_?)del	PLCB1	Deletion	Developmental and epileptic encephalopathy, 12	GPathogenic
Select item 2434920	NM_015192.4(PLCB1):c.437T>C (p.Met146Thr)	PLCB1 (M146T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 2434919	NM_015192.4(PLCB1):c.1232T>C (p.Phe411Ser)	PLCB1 (F411S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 2040564	NM_015192.4(PLCB1):c.1581+20G>C	LOC130065410, PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 1526680	GRCh37/hg19 20p12.3(chr20:8097724-8572965)	PLCB1	Copy number loss	not specified	GUncertain significance
Select item 979571	GRCh37/hg19 20p12.3(chr20:8175139-8331120)x1	PLCB1	Copy number loss	not provided	GUncertain significance
Select item 977413	NM_015192.4(PLCB1):c.3390A>C (p.Glu1130Asp)	PLCB1 (E1130D)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
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 897294	NM_015192.4(PLCB1):c.-170C>A	LOC130065408, PLCB1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
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 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 848881	NM_015192.4(PLCB1):c.1581+4G>A	LOC130065410, PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12 +1 more	GUncertain significance
Select item 816113	GRCh37/hg19 20p12.3(chr20:8140411-8258600)x1	PLCB1	Copy number loss	not provided	GUncertain significance
Select item 688626	GRCh37/hg19 20p12.3(chr20:8097724-8586513)x3	PLCB1	Copy number gain	not provided	GUncertain significance
Select item 687733	GRCh37/hg19 20p12.3(chr20:8843844-8880111)x1	PLCB1	Copy number loss	not provided	GPathogenic
Select item 687428	GRCh37/hg19 20p12.3(chr20:8097724-8586513)x3	PLCB1	Copy number gain	not provided	GUncertain significance
Select item 686783	GRCh37/hg19 20p12.3(chr20:8694762-8980041)x3	PLCB1	Copy number gain	not provided	GUncertain significance
Select item 686255	GRCh37/hg19 20p12.3(chr20:8151261-8449038)x3	PLCB1	Copy number gain	not provided	GUncertain significance
Select item 685525	GRCh37/hg19 20p12.3(chr20:8100168-8572225)x3	PLCB1	Copy number gain	not provided	GUncertain significance
Select item 685388	GRCh37/hg19 20p12.3(chr20:8089954-8572965)x1	PLCB1	Copy number loss	not provided	GPathogenic
Select item 685161	GRCh37/hg19 20p12.3(chr20:8512966-8792352)x1	PLCB1	Copy number loss	not provided	GPathogenic
Select item 564628	GRCh37/hg19 20p12.3(chr20:8089954-8586513)x1	PLCB1	Copy number loss	not provided	GUncertain significance
Select item 564618	GRCh37/hg19 20p12.3(chr20:8720438-8943614)x3	PLCB1	Copy number gain	not provided	GUncertain significance
Select item 548615	NM_015192.4(PLCB1):c.1940G>T (p.Gly647Val)	PLCB1 (G647V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 260595	NM_015192.4(PLCB1):c.1581+15C>T	LOC130065410, PLCB1	Single nucleotide variant (intron variant)	Early Infantile Epileptic Encephalopathy, Autosomal Recessive +3 more	GBenign/Likely benign

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Links from Gene

Items: 27