PLCB4[gene] - 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 145966	GRCh38/hg38 20p12.3-12.1(chr20:6617695-13392559)x1	ANKEF1, BMP2 +109 more	Copy number loss	See cases	GPathogenic
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 58967	GRCh38/hg38 20p12.3-12.2(chr20:8822784-9314724)x3	LOC112694730, LOC125384577 +5 more	Copy number gain	See cases	GUncertain significance
Select item 148981	GRCh38/hg38 20p12.2-12.1(chr20:9290612-14648536)x3	ANKEF1, BTBD3 +87 more	Copy number gain	See cases	GUncertain significance
Select item 3342734	NM_001377142.1(PLCB4):c.21del (p.Phe7fs)	PLCB4 (F7fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 339552	NM_001377142.1(PLCB4):c.61G>A (p.Ala21Thr)	PLCB4 (A21T)	Single nucleotide variant (missense variant)	Auriculocondylar syndrome 2 +1 more	GBenign
Select item 2380526	NM_001377142.1(PLCB4):c.62C>A (p.Ala21Glu)	PLCB4 (A21E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 898788	NM_001377142.1(PLCB4):c.84+6G>T	PLCB4	Single nucleotide variant (intron variant)	Auriculocondylar syndrome 2	GUncertain significance
Select item 2387242	NM_001377142.1(PLCB4):c.119A>C (p.Lys40Thr)	PLCB4 (K40T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1244492	NM_001377142.1(PLCB4):c.225+133G>A	PLCB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 339553	NM_001377142.1(PLCB4):c.226-8C>T	PLCB4	Single nucleotide variant (intron variant)	Auriculocondylar syndrome 2	GBenign
Select item 2406190	NM_001377142.1(PLCB4):c.310A>G (p.Thr104Ala)	PLCB4 (T104A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270709	NM_001377142.1(PLCB4):c.328A>C (p.Ser110Arg)	PLCB4 (S110R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1275561	NM_001377142.1(PLCB4):c.370-143A>G	PLCB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 161550	NM_001377142.1(PLCB4):c.408C>A (p.Phe136Leu)	PLCB4 (F136L)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 898789	NM_001377142.1(PLCB4):c.421G>A (p.Val141Ile)	PLCB4 (V141I)	Single nucleotide variant (missense variant)	Auriculocondylar syndrome 2	GBenign
Select item 2489229	NM_001377142.1(PLCB4):c.443A>G (p.Lys148Arg)	PLCB4 (K148R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 373682	NM_001377142.1(PLCB4):c.448C>G (p.His150Asp)	PLCB4 (H150D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 207904	NM_001377142.1(PLCB4):c.448C>T (p.His150Tyr)	PLCB4 (H150Y)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 382944	NM_001377142.1(PLCB4):c.453G>T (p.Trp151Cys)	PLCB4 (W151C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 339554	NM_001377142.1(PLCB4):c.462G>A (p.Leu154=)	PLCB4	Single nucleotide variant (synonymous variant)	Auriculocondylar syndrome 2 +1 more	GBenign/Likely benign
Select item 2104205	NM_001377142.1(PLCB4):c.503+10_503+12dup	PLCB4	Duplication (intron variant)	not provided	GLikely benign
Select item 1288956	NM_001377142.1(PLCB4):c.503+41A>G	PLCB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 339555	NM_001377142.1(PLCB4):c.504-6C>T	PLCB4	Single nucleotide variant (intron variant)	Auriculocondylar syndrome 2	GBenign
Select item 2159043	NM_001377142.1(PLCB4):c.525G>A (p.Ser175=)	PLCB4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 339556	NM_001377142.1(PLCB4):c.535G>A (p.Glu179Lys)	PLCB4 (E179K)	Single nucleotide variant (missense variant)	Auriculocondylar syndrome 2	GUncertain significance
Select item 3053813	NM_001377142.1(PLCB4):c.558C>T (p.Leu186=)	PLCB4	Single nucleotide variant (synonymous variant)	PLCB4-related disorder	GLikely benign
Select item 2540760	NM_001377142.1(PLCB4):c.575C>G (p.Pro192Arg)	PLCB4 (P192R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1260941	NM_001377142.1(PLCB4):c.586-234C>T	PLCB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 931883	NM_001377142.1(PLCB4):c.591T>A (p.Asp197Glu)	PLCB4 (D197E)	Single nucleotide variant (missense variant)	Auriculocondylar syndrome 2	GUncertain significance
Select item 895822	NM_001377142.1(PLCB4):c.607G>A (p.Ala203Thr)	PLCB4 (A203T)	Single nucleotide variant (missense variant)	Auriculocondylar syndrome 2 +1 more	GBenign/Likely benign
Select item 1675192	NM_001377142.1(PLCB4):c.687-3C>G	PLCB4	Single nucleotide variant (intron variant)	Auriculocondylar syndrome 2	GUncertain significance
Select item 2209570	NM_001377142.1(PLCB4):c.713C>T (p.Thr238Met)	PLCB4 (T238M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 895823	NM_001377142.1(PLCB4):c.751C>A (p.Arg251=)	PLCB4	Single nucleotide variant (synonymous variant)	Auriculocondylar syndrome 2	GUncertain significance
Select item 2432743	NM_001377142.1(PLCB4):c.815_821del (p.Ile272fs)	PLCB4 (I272fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2029438	NM_001377142.1(PLCB4):c.825T>C (p.Tyr275=)	PLCB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 339557	NM_001377142.1(PLCB4):c.833A>T (p.Asp278Val)	PLCB4 (D278V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1245284	NM_001377142.1(PLCB4):c.854-49A>G	PLCB4	Single nucleotide variant (intron variant)	Auriculocondylar syndrome 2 +1 more	GBenign
Select item 339558	NM_001377142.1(PLCB4):c.854-13C>T	PLCB4	Single nucleotide variant (intron variant)	Auriculocondylar syndrome 2	GUncertain significance
Select item 339559	NM_001377142.1(PLCB4):c.854-12T>A	PLCB4	Single nucleotide variant (intron variant)	Auriculocondylar syndrome 2	GUncertain significance
Select item 896103	NM_001377142.1(PLCB4):c.903C>T (p.Asn301=)	PLCB4	Single nucleotide variant (synonymous variant)	Auriculocondylar syndrome 2	GLikely benign
Select item 1327814	NM_001377142.1(PLCB4):c.915C>G (p.Phe305Leu)	PLCB4 (F305L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2260767	NM_001377142.1(PLCB4):c.923G>A (p.Arg308His)	PLCB4 (R308H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1176760	NM_001377142.1(PLCB4):c.928G>A (p.Glu310Lys)	PLCB4 (E310K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 896104	NM_001377142.1(PLCB4):c.936C>T (p.Tyr312=)	PLCB4	Single nucleotide variant (synonymous variant)	Auriculocondylar syndrome 2	GLikely benign
Select item 3236137	NM_001377142.1(PLCB4):c.962A>T (p.His321Leu)	PLCB4 (H321L)	Single nucleotide variant (missense variant)	Auriculocondylar syndrome 2	GUncertain significance
Select item 209128	NM_001377142.1(PLCB4):c.986A>C (p.Asn329Thr)	PLCB4 (N329T)	Single nucleotide variant (missense variant)	Auriculocondylar syndrome 1	GPathogenic
Select item 31638	NM_001377142.1(PLCB4):c.986A>G (p.Asn329Ser)	PLCB4 (N329S)	Single nucleotide variant (missense variant)	Auriculocondylar syndrome 2	GPathogenic
Select item 1982847	NM_001377142.1(PLCB4):c.1011C>T (p.Phe337=)	PLCB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1706548	NM_001377142.1(PLCB4):c.1015G>A (p.Gly339Arg)	PLCB4 (G339R)	Single nucleotide variant (missense variant)	Auriculocondylar syndrome 2	GLikely pathogenic
Select item 1226638	NM_001377142.1(PLCB4):c.1064+183T>G	PLCB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 339560	NM_001377142.1(PLCB4):c.1065-8A>G	PLCB4	Single nucleotide variant (intron variant)	Auriculocondylar syndrome 2 +1 more	GBenign
Select item 64693	NM_001377142.1(PLCB4):c.1073A>T (p.Glu358Val)	PLCB4 (E358V)	Single nucleotide variant (missense variant)	Auriculocondylar syndrome 2	GPathogenic
Select item 64694	NM_001377142.1(PLCB4):c.1078G>A (p.Asp360Asn)	PLCB4 (D360N)	Single nucleotide variant (missense variant)	Auriculocondylar syndrome 2	GPathogenic
Select item 64695	NM_001377142.1(PLCB4):c.1079A>T (p.Asp360Val)	PLCB4 (D360V)	Single nucleotide variant (missense variant)	Auriculocondylar syndrome 2	GPathogenic
Select item 1030923	NM_001377142.1(PLCB4):c.1124A>G (p.His375Arg)	PLCB4 (H375R)	Single nucleotide variant (missense variant)	Auriculocondylar syndrome 2	GLikely pathogenic
Select item 2632555	NM_001377142.1(PLCB4):c.1138T>C (p.Cys380Arg)	PLCB4 (C380R)	Single nucleotide variant (missense variant)	PLCB4-related disorder	GUncertain significance
Select item 2414012	NM_001377142.1(PLCB4):c.1159-11dup	PLCB4	Duplication (intron variant)	not provided	GBenign
Select item 1976343	NM_001377142.1(PLCB4):c.1159-12_1159-11dup	PLCB4	Duplication (intron variant)	not provided	GBenign
Select item 2828288	NM_001377142.1(PLCB4):c.1220C>A (p.Ser407Tyr)	PLCB4 (S407Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1299329	NM_001377142.1(PLCB4):c.1223T>C (p.Phe408Ser)	PLCB4 (F408S)	Single nucleotide variant (missense variant)	Auriculocondylar syndrome 2	GUncertain significance
Select item 1264993	NM_001377142.1(PLCB4):c.1239-49G>A	PLCB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2008441	NM_001377142.1(PLCB4):c.1262C>A (p.Ser421Tyr)	PLCB4 (S421Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 747746	NM_001377142.1(PLCB4):c.1290T>C (p.Asp430=)	PLCB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3346850	NM_001377142.1(PLCB4):c.1322C>A (p.Pro441Gln)	PLCB4 (P441Q)	Single nucleotide variant (missense variant)	PLCB4-related disorder	GLikely benign
Select item 3253222	NM_001377142.1(PLCB4):c.1354A>G (p.Asn452Asp)	PLCB4 (N452D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2363777	NM_001377142.1(PLCB4):c.1355A>G (p.Asn452Ser)	PLCB4 (N452S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 339561	NM_001377142.1(PLCB4):c.1364A>G (p.Lys455Arg)	PLCB4 (K455R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2238769	NM_001377142.1(PLCB4):c.1367G>T (p.Arg456Ile)	PLCB4 (R456I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3364953	NM_001377142.1(PLCB4):c.1382A>C (p.Lys461Thr)	PLCB4 (K461T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1090794	NM_001377142.1(PLCB4):c.1406T>C (p.Val469Ala)	PLCB4 (V469A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 896105	NM_001377142.1(PLCB4):c.1414+15C>T	PLCB4	Single nucleotide variant (intron variant)	Auriculocondylar syndrome 2	GBenign
Select item 1287370	NM_001377142.1(PLCB4):c.1414+16A>T	PLCB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288676	NM_001377142.1(PLCB4):c.1414+81T>G	PLCB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276172	NM_001377142.1(PLCB4):c.1415-151T>A	PLCB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 339562	NM_001377142.1(PLCB4):c.1428T>C (p.Ala476=)	PLCB4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 339563	NM_001377142.1(PLCB4):c.1462T>G (p.Ser488Ala)	PLCB4 (S488A)	Single nucleotide variant (missense variant)	Auriculocondylar syndrome 2	GBenign
Select item 339564	NM_001377142.1(PLCB4):c.1485C>T (p.Asp495=)	PLCB4	Single nucleotide variant (synonymous variant)	Auriculocondylar syndrome 2 +1 more	GBenign/Likely benign
Select item 2296793	NM_001377142.1(PLCB4):c.1502T>C (p.Ile501Thr)	PLCB4 (I501T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2796905	NM_001377142.1(PLCB4):c.1503C>T (p.Ile501=)	PLCB4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1222464	NM_001377142.1(PLCB4):c.1511-50T>A	PLCB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2541059	NM_001377142.1(PLCB4):c.1541T>G (p.Phe514Cys)	PLCB4 (F514C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1909740	NM_001377142.1(PLCB4):c.1561T>C (p.Ser521Pro)	PLCB4 (S521P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3214405	NM_001377142.1(PLCB4):c.1595C>G (p.Ala532Gly)	PLCB4 (A532G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3050807	NM_001377142.1(PLCB4):c.1602C>T (p.Ser534=)	PLCB4	Single nucleotide variant (synonymous variant)	PLCB4-related disorder	GLikely benign
Select item 339565	NM_001377142.1(PLCB4):c.1611+12C>T	PLCB4	Single nucleotide variant (intron variant)	Auriculocondylar syndrome 2 +1 more	GLikely benign
Select item 1222234	NM_001377142.1(PLCB4):c.1647+54A>T	PLCB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 64696	NM_001377142.1(PLCB4):c.1648-279_2051+1546del	PLCB4	Deletion (splice acceptor variant +1 more)	Auriculocondylar syndrome 2	GPathogenic
Select item 1227001	NM_001377142.1(PLCB4):c.1648-165C>T	PLCB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282798	NM_001377142.1(PLCB4):c.1648-135C>T	PLCB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 339566	NM_001377142.1(PLCB4):c.1648-11T>G	PLCB4	Single nucleotide variant (intron variant)	Auriculocondylar syndrome 2	GUncertain significance

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