ClinVar for MedGen (Select 766318) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3234864	NM_001377142.1(PLCB4):c.2681A>C (p.Lys894Thr)	PLCB4 (K882T +1 more)	Single nucleotide variant (missense variant)	Auriculocondylar syndrome 2	GUncertain significance
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 1706453	NM_001377142.1(PLCB4):c.2814+1G>C	PLCB4	Single nucleotide variant (splice donor variant)	Auriculocondylar syndrome 2	GPathogenic
Select item 1687451	NM_001377142.1(PLCB4):c.2050G>A (p.Gly684Arg)	PLCB4 (G672R +1 more)	Single nucleotide variant (missense variant)	Auriculocondylar syndrome 2	GUncertain significance
Select item 1675192	NM_001377142.1(PLCB4):c.687-3C>G	PLCB4	Single nucleotide variant (intron variant)	Auriculocondylar syndrome 2	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 1245284	NM_001377142.1(PLCB4):c.854-49A>G	PLCB4	Single nucleotide variant (intron variant)	Auriculocondylar syndrome 2 +1 more	GBenign
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 931883	NM_001377142.1(PLCB4):c.591T>A (p.Asp197Glu)	PLCB4 (D197E)	Single nucleotide variant (missense variant)	Auriculocondylar syndrome 2	GUncertain significance
Select item 898994	NM_001377142.1(PLCB4):c.*1610G>A	PLCB4	Single nucleotide variant (3 prime UTR variant)	Auriculocondylar syndrome 2	GUncertain significance
Select item 898993	NM_001377142.1(PLCB4):c.*1412C>T	PLCB4	Single nucleotide variant (3 prime UTR variant)	Auriculocondylar syndrome 2	GUncertain significance
Select item 898992	NM_001377142.1(PLCB4):c.*1402A>G	PLCB4	Single nucleotide variant (3 prime UTR variant)	Auriculocondylar syndrome 2	GUncertain significance
Select item 898991	NM_001377142.1(PLCB4):c.*1355G>T	PLCB4	Single nucleotide variant (3 prime UTR variant)	Auriculocondylar syndrome 2	GUncertain significance
Select item 898913	NM_001377142.1(PLCB4):c.*343T>G	PLCB4	Single nucleotide variant (3 prime UTR variant)	Auriculocondylar syndrome 2	GUncertain significance
Select item 898912	NM_001377142.1(PLCB4):c.*109T>C	PLCB4	Single nucleotide variant (3 prime UTR variant)	Auriculocondylar syndrome 2	GUncertain significance
Select item 898856	NM_001377142.1(PLCB4):c.2046G>A (p.Ser682=)	PLCB4	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 898855	NM_001377142.1(PLCB4):c.2030T>A (p.Phe677Tyr)	PLCB4 (F665Y +1 more)	Single nucleotide variant (missense variant)	Auriculocondylar syndrome 2	GUncertain significance
Select item 898854	NM_001377142.1(PLCB4):c.2000-5G>T	PLCB4	Single nucleotide variant (intron variant)	Auriculocondylar syndrome 2	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 898788	NM_001377142.1(PLCB4):c.84+6G>T	PLCB4	Single nucleotide variant (intron variant)	Auriculocondylar syndrome 2	GUncertain significance
Select item 897844	NM_001377142.1(PLCB4):c.*1305T>A	PLCB4	Single nucleotide variant (3 prime UTR variant)	Auriculocondylar syndrome 2	GUncertain significance
Select item 897843	NM_001377142.1(PLCB4):c.*1292G>A	PLCB4	Single nucleotide variant (3 prime UTR variant)	Auriculocondylar syndrome 2	GUncertain significance
Select item 897842	NM_001377142.1(PLCB4):c.*1220A>G	PLCB4	Single nucleotide variant (3 prime UTR variant)	Auriculocondylar syndrome 2	GUncertain significance
Select item 897841	NM_001377142.1(PLCB4):c.*1191T>G	PLCB4	Single nucleotide variant (3 prime UTR variant)	Auriculocondylar syndrome 2	GUncertain significance
Select item 897840	NM_001377142.1(PLCB4):c.*1136C>A	PLCB4	Single nucleotide variant (3 prime UTR variant)	Auriculocondylar syndrome 2	GBenign
Select item 897772	NM_001377142.1(PLCB4):c.3210C>G (p.His1070Gln)	PLCB4 (H1058Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 897771	NM_001377142.1(PLCB4):c.3203A>G (p.Asn1068Ser)	PLCB4 (N1056S +1 more)	Single nucleotide variant (missense variant)	Auriculocondylar syndrome 2 +1 more	GBenign/Likely benign
Select item 897770	NM_001377142.1(PLCB4):c.3133G>T (p.Ala1045Ser)	PLCB4 (A1033S +1 more)	Single nucleotide variant (missense variant)	Auriculocondylar syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 897694	NM_001377142.1(PLCB4):c.1875-3C>T	PLCB4	Single nucleotide variant (intron variant)	Auriculocondylar syndrome 2	GUncertain significance
Select item 897693	NM_001377142.1(PLCB4):c.1874+8T>C	PLCB4	Single nucleotide variant (intron variant)	Auriculocondylar syndrome 2	GUncertain significance
Select item 897692	NM_001377142.1(PLCB4):c.1677G>A (p.Ala559=)	PLCB4	Single nucleotide variant (synonymous variant)	Auriculocondylar syndrome 2	GBenign
Select item 896236	NM_001377142.1(PLCB4):c.*1047C>G	PLCB4	Single nucleotide variant (3 prime UTR variant)	Auriculocondylar syndrome 2	GUncertain significance
Select item 896235	NM_001377142.1(PLCB4):c.*1018T>C	PLCB4	Single nucleotide variant (3 prime UTR variant)	Auriculocondylar syndrome 2	GUncertain significance
Select item 896234	NM_001377142.1(PLCB4):c.*874A>G	PLCB4	Single nucleotide variant (3 prime UTR variant)	Auriculocondylar syndrome 2	GUncertain significance
Select item 896233	NM_001377142.1(PLCB4):c.*811T>C	PLCB4	Single nucleotide variant (3 prime UTR variant)	Auriculocondylar syndrome 2	GBenign
Select item 896169	NM_001377142.1(PLCB4):c.2894T>C (p.Met965Thr)	PLCB4 (M953T +1 more)	Single nucleotide variant (missense variant)	Auriculocondylar syndrome 2	GUncertain significance
Select item 896168	NM_001377142.1(PLCB4):c.2808G>A (p.Gln936=)	PLCB4	Single nucleotide variant (synonymous variant)	Auriculocondylar syndrome 2	GUncertain significance
Select item 896105	NM_001377142.1(PLCB4):c.1414+15C>T	PLCB4	Single nucleotide variant (intron variant)	Auriculocondylar syndrome 2	GBenign
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 896103	NM_001377142.1(PLCB4):c.903C>T (p.Asn301=)	PLCB4	Single nucleotide variant (synonymous variant)	Auriculocondylar syndrome 2	GLikely benign
Select item 895958	NM_001377142.1(PLCB4):c.*785A>G	PLCB4	Single nucleotide variant (3 prime UTR variant)	Auriculocondylar syndrome 2	GUncertain significance
Select item 895957	NM_001377142.1(PLCB4):c.*744G>A	PLCB4	Single nucleotide variant (3 prime UTR variant)	Auriculocondylar syndrome 2	GUncertain significance
Select item 895956	NM_001377142.1(PLCB4):c.*694C>T	PLCB4	Single nucleotide variant (3 prime UTR variant)	Auriculocondylar syndrome 2	GUncertain significance
Select item 895955	NM_001377142.1(PLCB4):c.*586C>T	PLCB4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 895954	NM_001377142.1(PLCB4):c.*470C>A	PLCB4	Single nucleotide variant (3 prime UTR variant)	Auriculocondylar syndrome 2	GUncertain significance
Select item 895889	NM_001377142.1(PLCB4):c.2257C>T (p.Arg753Cys)	PLCB4 (R753C +1 more)	Single nucleotide variant (missense variant)	Auriculocondylar syndrome 2	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 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 635078	NM_001377142.1(PLCB4):c.1924G>A (p.Asp642Asn)	PLCB4 (D642N +1 more)	Single nucleotide variant (missense variant)	Abnormal facial shape +3 more	GConflicting classifications of pathogenicity
Select item 631880	NM_001377142.1(PLCB4):c.3580C>T (p.Gln1194Ter)	PLCB4 (Q1182* +1 more)	Single nucleotide variant (nonsense +1 more)	Auriculocondylar syndrome 2	GUncertain significance
Select item 339618	NM_001377142.1(PLCB4):c.*1766G>A	PLCB4	Single nucleotide variant (3 prime UTR variant)	Auriculocondylar syndrome 2	GBenign
Select item 339617	NM_001377142.1(PLCB4):c.*1731A>T	PLCB4	Single nucleotide variant (3 prime UTR variant)	Auriculocondylar syndrome 2	GBenign
Select item 339614	NM_001377142.1(PLCB4):c.*1487G>C	PLCB4	Single nucleotide variant (3 prime UTR variant)	Auriculocondylar syndrome 2	GBenign
Select item 339613	NM_001377142.1(PLCB4):c.*1461A>G	PLCB4	Single nucleotide variant (3 prime UTR variant)	Auriculocondylar syndrome 2	GUncertain significance
Select item 339612	NM_001377142.1(PLCB4):c.*1353A>C	PLCB4	Single nucleotide variant (3 prime UTR variant)	Auriculocondylar syndrome 2	GUncertain significance
Select item 339611	NM_001377142.1(PLCB4):c.*1202G>A	PLCB4	Single nucleotide variant (3 prime UTR variant)	Auriculocondylar syndrome 2	GBenign
Select item 339610	NM_001377142.1(PLCB4):c.*1104G>T	PLCB4	Single nucleotide variant (3 prime UTR variant)	Auriculocondylar syndrome 2	GUncertain significance
Select item 339609	NM_001377142.1(PLCB4):c.*1011A>G	PLCB4	Single nucleotide variant (3 prime UTR variant)	Auriculocondylar syndrome 2	GUncertain significance
Select item 339608	NM_001377142.1(PLCB4):c.*1003A>C	PLCB4	Single nucleotide variant (3 prime UTR variant)	Auriculocondylar syndrome 2 +1 more	GBenign
Select item 339607	NM_001377142.1(PLCB4):c.*955T>C	PLCB4	Single nucleotide variant (3 prime UTR variant)	Auriculocondylar syndrome 2	GBenign
Select item 339606	NM_001377142.1(PLCB4):c.*869G>T	PLCB4	Single nucleotide variant (3 prime UTR variant)	Auriculocondylar syndrome 2	GUncertain significance
Select item 339605	NM_001377142.1(PLCB4):c.*738G>A	PLCB4	Single nucleotide variant (3 prime UTR variant)	Auriculocondylar syndrome 2 +1 more	GBenign
Select item 339602	NM_001377142.1(PLCB4):c.*374A>G	PLCB4	Single nucleotide variant (3 prime UTR variant)	Auriculocondylar syndrome 2	GBenign
Select item 339601	NM_001377142.1(PLCB4):c.*345C>T	PLCB4	Single nucleotide variant (3 prime UTR variant)	Auriculocondylar syndrome 2 +1 more	GBenign
Select item 339600	NM_001377142.1(PLCB4):c.*271A>G	PLCB4	Single nucleotide variant (3 prime UTR variant)	Auriculocondylar syndrome 2 +1 more	GBenign
Select item 339599	NM_001377142.1(PLCB4):c.*230G>C	PLCB4	Single nucleotide variant (3 prime UTR variant)	Auriculocondylar syndrome 2	GBenign
Select item 339598	NM_001377142.1(PLCB4):c.*209A>C	PLCB4	Single nucleotide variant (3 prime UTR variant)	Auriculocondylar syndrome 2 +1 more	GBenign
Select item 339597	NM_001377142.1(PLCB4):c.*90A>T	PLCB4	Single nucleotide variant (3 prime UTR variant)	Auriculocondylar syndrome 2	GBenign
Select item 339596	NM_001377142.1(PLCB4):c.*64T>A	PLCB4	Single nucleotide variant (3 prime UTR variant)	Auriculocondylar syndrome 2	GUncertain significance
Select item 339595	NM_001377142.1(PLCB4):c.3534C>T (p.Gly1178=)	PLCB4 (A1166V +1 more)	Single nucleotide variant (synonymous variant +1 more)	Auriculocondylar syndrome 2 +1 more	GBenign
Select item 339592	NM_001377142.1(PLCB4):c.3408+11T>C	PLCB4	Single nucleotide variant (intron variant)	Auriculocondylar syndrome 2 +1 more	GLikely benign
Select item 339591	NM_001377142.1(PLCB4):c.3122A>G (p.Asn1041Ser)	PLCB4 (N1029S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 339590	NM_001377142.1(PLCB4):c.3119T>C (p.Ile1040Thr)	PLCB4 (I1028T +1 more)	Single nucleotide variant (missense variant)	Auriculocondylar syndrome 2	GBenign
Select item 339589	NM_001377142.1(PLCB4):c.3045G>A (p.Gln1015=)	PLCB4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 339588	NM_001377142.1(PLCB4):c.3028A>G (p.Thr1010Ala)	PLCB4 (T1010A +1 more)	Single nucleotide variant (missense variant)	Auriculocondylar syndrome 2 +1 more	GBenign
Select item 339587	NM_001377142.1(PLCB4):c.2997-6T>C	PLCB4	Single nucleotide variant (intron variant)	Auriculocondylar syndrome 2 +1 more	GBenign
Select item 339586	NM_001377142.1(PLCB4):c.2936A>G (p.Gln979Arg)	PLCB4 (Q967R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 339585	NM_001377142.1(PLCB4):c.2880+14C>A	PLCB4	Single nucleotide variant (intron variant)	Auriculocondylar syndrome 2 +1 more	GBenign
Select item 339584	NM_001377142.1(PLCB4):c.2858C>A (p.Ser953Tyr)	PLCB4 (S953Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 339583	NM_001377142.1(PLCB4):c.2815-15A>C	PLCB4	Single nucleotide variant (intron variant)	Auriculocondylar syndrome 2 +1 more	GBenign
Select item 339582	NM_001377142.1(PLCB4):c.2676C>T (p.Thr892=)	PLCB4	Single nucleotide variant (synonymous variant)	Auriculocondylar syndrome 2 +1 more	GBenign
Select item 339581	NM_001377142.1(PLCB4):c.2635A>T (p.Ser879Cys)	PLCB4 (S867C +1 more)	Single nucleotide variant (missense variant)	Auriculocondylar syndrome 2	GUncertain significance
Select item 339580	NM_001377142.1(PLCB4):c.2628C>T (p.Asp876=)	PLCB4	Single nucleotide variant (synonymous variant)	Auriculocondylar syndrome 2 +1 more	GBenign
Select item 339579	NM_001377142.1(PLCB4):c.2566A>G (p.Ile856Val)	PLCB4 (I856V +1 more)	Single nucleotide variant (missense variant)	Auriculocondylar syndrome 2	GLikely benign
Select item 339578	NM_001377142.1(PLCB4):c.2525-8T>C	PLCB4	Single nucleotide variant (intron variant)	Auriculocondylar syndrome 2 +1 more	GLikely benign
Select item 339577	NM_001377142.1(PLCB4):c.2400G>A (p.Pro800=)	PLCB4	Single nucleotide variant (synonymous variant)	Auriculocondylar syndrome 2 +1 more	GBenign
Select item 339576	NM_001377142.1(PLCB4):c.2331G>C (p.Pro777=)	PLCB4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 339575	NM_001377142.1(PLCB4):c.2155-4A>G	PLCB4	Single nucleotide variant (intron variant)	Auriculocondylar syndrome 2 +1 more	GBenign
Select item 339574	NM_001377142.1(PLCB4):c.2154+9C>G	PLCB4	Single nucleotide variant (intron variant)	Auriculocondylar syndrome 2 +1 more	GBenign/Likely benign
Select item 339573	NM_001377142.1(PLCB4):c.2154+8C>A	PLCB4	Single nucleotide variant (intron variant)	Auriculocondylar syndrome 2 +1 more	GBenign
Select item 339572	NM_001377142.1(PLCB4):c.2052-7C>T	PLCB4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 339571	NM_001377142.1(PLCB4):c.2051+8A>G	PLCB4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 339570	NM_001377142.1(PLCB4):c.1885C>T (p.Arg629Trp)	PLCB4 (R617W +1 more)	Single nucleotide variant (missense variant)	Auriculocondylar syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 339569	NM_001377142.1(PLCB4):c.1833C>T (p.Val611=)	PLCB4	Single nucleotide variant (synonymous variant)	Auriculocondylar syndrome 2	GBenign
Select item 339568	NM_001377142.1(PLCB4):c.1749C>T (p.Tyr583=)	PLCB4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 339567	NM_001377142.1(PLCB4):c.1738A>G (p.Met580Val)	PLCB4 (M568V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 339566	NM_001377142.1(PLCB4):c.1648-11T>G	PLCB4	Single nucleotide variant (intron variant)	Auriculocondylar syndrome 2	GUncertain significance
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 339564	NM_001377142.1(PLCB4):c.1485C>T (p.Asp495=)	PLCB4	Single nucleotide variant (synonymous variant)	Auriculocondylar syndrome 2 +1 more	GBenign/Likely benign

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