28338[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 144376	GRCh38/hg38 12p12.1-11.1(chr12:25263833-34064528)x1	ALG10, AMN1 +242 more	Copy number loss	See cases	GPathogenic
Select item 2528214	NM_144973.4(DENND5B):c.3743A>G (p.Asn1248Ser)	DENND5B (N1248S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522377	NM_144973.4(DENND5B):c.3730C>T (p.Arg1244Cys)	DENND5B (R1244C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1710442	NM_144973.4(DENND5B):c.3724C>T (p.Arg1242Ter)	DENND5B (R1242* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3363921	NM_144973.4(DENND5B):c.3712A>G (p.Ser1238Gly)	DENND5B (S1238G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2351748	NM_144973.4(DENND5B):c.3710A>G (p.Glu1237Gly)	DENND5B (E1237G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081683	NM_144973.4(DENND5B):c.3647G>A (p.Arg1216His)	DENND5B (R1216H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480473	NM_144973.4(DENND5B):c.3637A>T (p.Thr1213Ser)	DENND5B (T1213S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3390523	NM_144973.4(DENND5B):c.3618G>T (p.Gln1206His)	DENND5B (Q1206H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2400209	NM_144973.4(DENND5B):c.3565G>A (p.Val1189Ile)	DENND5B (V1189I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081680	NM_144973.4(DENND5B):c.3541T>G (p.Ser1181Ala)	DENND5B (S1216A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3375642	NM_144973.4(DENND5B):c.3489_3497del (p.Glu1163_Thr1165del)	DENND5B	Deletion	not provided	GUncertain significance
Select item 3367291	NM_144973.4(DENND5B):c.3470A>T (p.Lys1157Ile)	DENND5B (K1157I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2600132	NM_144973.4(DENND5B):c.3428G>A (p.Arg1143His)	DENND5B (R1143H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275628	NM_144973.4(DENND5B):c.3355G>C (p.Val1119Leu)	DENND5B (V1119L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279867	NM_144973.4(DENND5B):c.3263A>G (p.Asn1088Ser)	DENND5B (N1088S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081678	NM_144973.4(DENND5B):c.3202T>A (p.Ser1068Thr)	DENND5B (S1068T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081676	NM_144973.4(DENND5B):c.3181C>T (p.Arg1061Trp)	DENND5B (R1061W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291945	NM_144973.4(DENND5B):c.3169G>C (p.Val1057Leu)	DENND5B (V1092L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217316	NM_144973.4(DENND5B):c.3152C>G (p.Ala1051Gly)	DENND5B (A1086G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081675	NM_144973.4(DENND5B):c.3145A>G (p.Thr1049Ala)	DENND5B (T1084A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2642826	NM_144973.4(DENND5B):c.3096A>G (p.Lys1032=)	DENND5B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2476761	NM_144973.4(DENND5B):c.3067A>G (p.Arg1023Gly)	DENND5B (R1023G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642827	NM_144973.4(DENND5B):c.2908G>A (p.Val970Ile)	DENND5B (V1005I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3271611	NM_144973.4(DENND5B):c.2821G>A (p.Val941Met)	DENND5B (V941M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3365316	NM_144973.4(DENND5B):c.2803+1G>A	DENND5B	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3391792	NM_144973.4(DENND5B):c.2797A>G (p.Thr933Ala)	DENND5B (T933A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2305600	NM_144973.4(DENND5B):c.2725A>G (p.Arg909Gly)	DENND5B (R909G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340412	NM_144973.4(DENND5B):c.2710C>T (p.Arg904Cys)	DENND5B (R904C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604446	NM_144973.4(DENND5B):c.2665A>G (p.Asn889Asp)	DENND5B (N889D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3342491	NM_144973.4(DENND5B):c.2650A>G (p.Lys884Glu)	DENND5B (K884E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3381671	NM_144973.4(DENND5B):c.2569A>G (p.Ser857Gly)	DENND5B (S857G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2664955	NM_144973.4(DENND5B):c.2554C>T (p.His852Tyr)	DENND5B (H852Y +1 more)	Single nucleotide variant (missense variant)	DENND5B-related neurodevelopmental disorder	GLikely pathogenic
Select item 2664957	NM_144973.4(DENND5B):c.2547C>A (p.Asp849Glu)	DENND5B (D849E +1 more)	Single nucleotide variant (missense variant)	DENND5B-related neurodevelopmental disorder	GUncertain significance
Select item 3081674	NM_144973.4(DENND5B):c.2478C>T (p.Leu826=)	DENND5B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2664956	NM_144973.4(DENND5B):c.2399C>T (p.Ser800Leu)	DENND5B (S800L +1 more)	Single nucleotide variant (missense variant)	DENND5B-related neurodevelopmental disorder	GUncertain significance
Select item 3341015	NM_144973.4(DENND5B):c.2321A>G (p.Glu774Gly)	DENND5B (E774G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2514428	NM_144973.4(DENND5B):c.2269C>T (p.His757Tyr)	DENND5B (H757Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318470	NM_144973.4(DENND5B):c.2254G>C (p.Val752Leu)	DENND5B (V752L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2664959	NM_144973.4(DENND5B):c.2246G>A (p.Arg749His)	DENND5B (R749H +1 more)	Single nucleotide variant (missense variant)	DENND5B-related neurodevelopmental disorder	GUncertain significance
Select item 3081673	NM_144973.4(DENND5B):c.2122G>A (p.Ala708Thr)	DENND5B (A743T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081672	NM_144973.4(DENND5B):c.2113A>T (p.Met705Leu)	DENND5B (M705L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314903	NM_144973.4(DENND5B):c.2087T>C (p.Leu696Pro)	DENND5B (L696P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081671	NM_144973.4(DENND5B):c.2026C>T (p.Arg676Trp)	DENND5B (R711W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295357	NM_144973.4(DENND5B):c.1981G>A (p.Asp661Asn)	DENND5B (D661N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305599	NM_144973.4(DENND5B):c.1961T>G (p.Phe654Cys)	DENND5B (F676C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081670	NM_144973.4(DENND5B):c.1882C>A (p.Leu628Met)	DENND5B (L628M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297620	NM_144973.4(DENND5B):c.1873G>A (p.Glu625Lys)	DENND5B (E625K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3252780	NM_144973.4(DENND5B):c.1861+2T>A	DENND5B	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2642828	NM_144973.4(DENND5B):c.1830A>G (p.Ile610Met)	DENND5B (I610M +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3372756	NM_144973.4(DENND5B):c.1721A>G (p.Lys574Arg)	DENND5B (K574R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2334854	NM_144973.4(DENND5B):c.1678C>T (p.Arg560Cys)	DENND5B (R582C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3392969	NM_144973.4(DENND5B):c.1676C>G (p.Ser559Ter)	DENND5B (S559* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2664958	NM_144973.4(DENND5B):c.1676C>T (p.Ser559Leu)	DENND5B (S559L +2 more)	Single nucleotide variant (missense variant)	DENND5B-related neurodevelopmental disorder	GUncertain significance
Select item 3342583	NM_144973.4(DENND5B):c.1624G>A (p.Asp542Asn)	DENND5B (D365N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2278244	NM_144973.4(DENND5B):c.1304G>A (p.Gly435Asp)	DENND5B (G258D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271607	NM_144973.4(DENND5B):c.1289A>G (p.Asn430Ser)	DENND5B (N253S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258355	NM_144973.4(DENND5B):c.1225G>A (p.Gly409Ser)	DENND5B (G232S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3342571	NM_144973.4(DENND5B):c.1220C>T (p.Pro407Leu)	DENND5B (P230L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3081669	NM_144973.4(DENND5B):c.1172A>G (p.Asp391Gly)	DENND5B (D214G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321433	NM_144973.4(DENND5B):c.1163A>G (p.Asn388Ser)	DENND5B (N423S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3343430	NM_144973.4(DENND5B):c.1141G>A (p.Glu381Lys)	DENND5B (E204K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3081668	NM_144973.4(DENND5B):c.1115T>C (p.Ile372Thr)	DENND5B (I195T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3378341	NM_144973.4(DENND5B):c.1091A>G (p.Glu364Gly)	DENND5B (E187G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2595985	NM_144973.4(DENND5B):c.913C>T (p.Arg305Cys)	DENND5B (R305C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081688	NM_144973.4(DENND5B):c.814C>T (p.Arg272Trp)	DENND5B (R272W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283841	NM_144973.4(DENND5B):c.785G>T (p.Ser262Ile)	DENND5B (S297I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271608	NM_144973.4(DENND5B):c.779G>A (p.Gly260Glu)	DENND5B (G260E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369413	NM_144973.4(DENND5B):c.749T>C (p.Val250Ala)	DENND5B (V285A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3383805	NM_144973.4(DENND5B):c.746G>T (p.Gly249Val)	DENND5B (G249V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3271610	NM_144973.4(DENND5B):c.737A>T (p.Lys246Ile)	DENND5B (K268I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081687	NM_144973.4(DENND5B):c.727A>T (p.Arg243Trp)	DENND5B (R265W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284527	NM_144973.4(DENND5B):c.709C>T (p.Pro237Ser)	DENND5B (P237S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3342545	NM_144973.4(DENND5B):c.683A>G (p.Tyr228Cys)	DENND5B (Y228C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3081686	NM_144973.4(DENND5B):c.583A>G (p.Ile195Val)	DENND5B (I217V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081685	NM_144973.4(DENND5B):c.508C>A (p.Leu170Ile)	DENND5B (L170I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081684	NM_144973.4(DENND5B):c.385T>A (p.Cys129Ser)	DENND5B (C129S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081681	NM_144973.4(DENND5B):c.359A>G (p.Tyr120Cys)	DENND5B (Y120C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081679	NM_144973.4(DENND5B):c.335C>T (p.Thr112Ile)	DENND5B (T112I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559399	NM_144973.4(DENND5B):c.272A>G (p.Gln91Arg)	DENND5B (Q126R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275874	NM_144973.4(DENND5B):c.259T>G (p.Ser87Ala)	DENND5B (S87A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3373335	NM_144973.4(DENND5B):c.190C>T (p.Pro64Ser)	DENND5B (P64S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2483599	NM_144973.4(DENND5B):c.95C>G (p.Ala32Gly)	DENND5B, DENND5B-AS1 +1 more (A32G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607825	NM_144973.4(DENND5B):c.58C>T (p.Arg20Cys)	DENND5B, DENND5B-AS1 +1 more (R20C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305303	NM_144973.4(DENND5B):c.32G>T (p.Gly11Val)	DENND5B, DENND5B-AS1 +1 more (G11V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3391852	GRCh37/hg19 12p13.2-11.1(chr12:10155706-34051988)x3	OVCH1, PDE3A +146 more	Copy number gain	not provided	GPathogenic
Select item 3391851	GRCh37/hg19 12p13.33-11.1(chr12:173787-34835837)x4	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic

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