"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "PLCB1"[gen - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 897290	NM_015192.4(PLCB1):c.-330C>T	PLCB1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 1427644	NM_015192.4(PLCB1):c.432A>G (p.Gln144=)	PLCB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 589868	NM_015192.4(PLCB1):c.564T>A (p.Ala188=)	PLCB1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 339499	NM_015192.4(PLCB1):c.714A>C (p.Pro238=)	PLCB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2672875	NM_015192.4(PLCB1):c.921T>G (p.Val307=)	PLCB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 502172	NM_015192.4(PLCB1):c.1230G>A (p.Ser410=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12 +2 more	GConflicting classifications of pathogenicity
Select item 696811	NM_015192.4(PLCB1):c.1275G>A (p.Ala425=)	PLCB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1711536	NM_015192.4(PLCB1):c.1330T>C (p.Tyr444His)	PLCB1 (Y444H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 129902	NM_015192.4(PLCB1):c.1469A>G (p.Tyr490Cys)	PLCB1 (Y490C)	Single nucleotide variant (missense variant)	Early Infantile Epileptic Encephalopathy, Autosomal Recessive +5 more	GConflicting classifications of pathogenicity
Select item 809221	NM_015192.4(PLCB1):c.1729G>A (p.Glu577Lys)	PLCB1 (E577K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3067756	NM_015192.4(PLCB1):c.1923A>G (p.Glu641=)	PLCB1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 195514	NM_015192.4(PLCB1):c.2088C>T (p.Tyr696=)	PLCB1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 129904	NM_015192.4(PLCB1):c.2191C>G (p.Pro731Ala)	PLCB1 (P731A)	Single nucleotide variant (missense variant)	Early Infantile Epileptic Encephalopathy, Autosomal Recessive +3 more	GConflicting classifications of pathogenicity
Select item 339509	NM_015192.4(PLCB1):c.2309-15A>C	PLCB1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1399269	NM_015192.4(PLCB1):c.2564C>T (p.Ala855Val)	PLCB1 (A855V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 436321	NM_015192.4(PLCB1):c.2673T>G (p.Pro891=)	PLCB1	Single nucleotide variant (synonymous variant)	PLCB1-related condition +4 more	GBenign/Likely benign
Select item 916459	NM_015192.4(PLCB1):c.2790G>T (p.Met930Ile)	PLCB1 (M930I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 932376	NM_015192.4(PLCB1):c.2880G>A (p.Leu960=)	PLCB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 809222	NM_015192.4(PLCB1):c.2930+8C>A	PLCB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1659572	NM_015192.4(PLCB1):c.2930+20T>G	PLCB1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 129909	NM_015192.4(PLCB1):c.2967G>A (p.Thr989=)	PLCB1	Single nucleotide variant (synonymous variant)	Early Infantile Epileptic Encephalopathy, Autosomal Recessive +4 more	GConflicting classifications of pathogenicity
Select item 493318	NM_015192.4(PLCB1):c.3160T>A (p.Leu1054Ile)	PLCB1 (L1054I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 897025	NM_015192.4(PLCB1):c.3447A>G (p.Glu1149=)	PLCB1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2652199	NM_015192.4(PLCB1):c.3549T>G (p.Pro1183=)	PLCB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 95688	NM_015192.4(PLCB1):c.3550C>T (p.Leu1184Phe)	PLCB1 (L1184F)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 283209	NM_015192.4(PLCB1):c.3584A>G (p.His1195Arg)	PLCB1 (H1195R)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 12 +3 more	GConflicting classifications of pathogenicity
Select item 211913	NM_015192.4(PLCB1):c.3643C>T (p.Pro1215Ser)	PLCB1 (P1215S)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 12 +3 more	GUncertain significance
Select item 1879533	NM_015192.4(PLCB1):c.1978_1981dup	PLCB1	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	SEC23B, SEL1L2 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	CDS2, CPXM1 +114 more	Copy number gain	not provided	GPathogenic

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Items: 31