ClinVar for Gene (Select 3207) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4336732	NM_005523.6(HOXA11):c.387C>G (p.Thr129=)	HOXA11, LOC107126281	Single nucleotide variant (synonymous variant)	Not Specified
Select item 4336731	NM_005523.6(HOXA11):c.698C>T (p.Ala233Val)	HOXA11, LOC107126281 (A233V)	Single nucleotide variant (missense variant)	Not Specified
Select item 4336730	NM_005523.6(HOXA11):c.*1500C>A	HOXA11	Single nucleotide variant (3 prime UTR variant)	Not Specified
Select item 4281099	NM_005523.6(HOXA11):c.114G>A (p.Pro38=)	HOXA11, LOC107126281	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 4277653	NM_005523.6(HOXA11):c.112_113dup (p.Ser39fs)	HOXA11, LOC107126281 (S39fs)	Duplication (frameshift variant)	Radioulnar synostosis with amegakaryocytic thrombocytopenia 1	GUncertain significance
Select item 4271698	NM_005523.6(HOXA11):c.173G>A (p.Arg58His)	HOXA11, LOC107126281 (R58H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 4271697	NM_005523.6(HOXA11):c.31T>C (p.Ser11Pro)	LOC107126281, HOXA11 (S11P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 4271696	NM_005523.6(HOXA11):c.511G>A (p.Ala171Thr)	HOXA11, LOC107126281 (A171T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 4271695	NM_005523.6(HOXA11):c.700G>C (p.Gly234Arg)	HOXA11, LOC107126281 (G234R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 4271694	NM_005523.6(HOXA11):c.926C>T (p.Ala309Val)	HOXA11 (A309V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 4271693	NM_005523.6(HOXA11):c.635G>A (p.Arg212Gln)	HOXA11, LOC107126281 (R212Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 4271692	NM_005523.6(HOXA11):c.146C>G (p.Ser49Cys)	LOC107126281, HOXA11 (S49C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 4035885	NM_005523.6(HOXA11):c.520G>A (p.Ala174Thr)	HOXA11, LOC107126281 (A174T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 4035884	NM_005523.6(HOXA11):c.386C>A (p.Thr129Asn)	HOXA11, LOC107126281 (T129N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 4035883	NM_005523.6(HOXA11):c.373A>T (p.Asn125Tyr)	HOXA11, LOC107126281 (N125Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 4035882	NM_005523.6(HOXA11):c.370T>G (p.Ser124Ala)	HOXA11, LOC107126281 (S124A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3891341	NM_005523.6(HOXA11):c.328A>C (p.Ser110Arg)	LOC107126281, HOXA11 (S110R)	Single nucleotide variant (missense variant)	Radioulnar synostosis with amegakaryocytic thrombocytopenia 1	GUncertain significance
Select item 3858387	NM_005523.6(HOXA11):c.127A>G (p.Met43Val)	HOXA11, LOC107126281 (M43V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3766596	NM_005523.6(HOXA11):c.380A>G (p.Tyr127Cys)	HOXA11, LOC107126281 (Y127C)	Single nucleotide variant (missense variant)	Radioulnar synostosis with amegakaryocytic thrombocytopenia 1	GUncertain significance
Select item 3526231	NM_005523.6(HOXA11):c.373A>G (p.Asn125Asp)	HOXA11, LOC107126281 (N125D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3526230	NM_005523.6(HOXA11):c.710G>A (p.Ser237Asn)	HOXA11 (S237N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3526229	NM_005523.6(HOXA11):c.403G>A (p.Val135Ile)	HOXA11, LOC107126281 (V135I)	Single nucleotide variant (missense variant)	Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 +1 more	GUncertain significance
Select item 3379743	NM_005523.6(HOXA11):c.531GGC[7] (p.Ala183_Thr184insAlaAla)	HOXA11, LOC107126281	Microsatellite	Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 +1 more	GUncertain significance
Select item 3379742	NM_005523.6(HOXA11):c.644G>T (p.Arg215Leu)	HOXA11, LOC107126281 (R215L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375440	NM_005523.6(HOXA11):c.*11G>T	HOXA11	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 3356808	NM_005523.6(HOXA11):c.29C>T (p.Ser10Phe)	HOXA11, LOC107126281 (S10F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284627	NM_005523.6(HOXA11):c.172C>A (p.Arg58Ser)	HOXA11, LOC107126281 (R58S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251354	NM_005523.6(HOXA11):c.819A>T (p.Gln273His)	HOXA11 (Q273H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245865	NC_000007.13:g.(?_26232136)_(28172587_?)del	CBX3, EVX1 +22 more	Deletion	not provided	GPathogenic
Select item 3106556	NM_005523.6(HOXA11):c.604G>A (p.Glu202Lys)	HOXA11, LOC107126281 (E202K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106555	NM_005523.6(HOXA11):c.494C>A (p.Ala165Asp)	HOXA11, LOC107126281 (A165D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106554	NM_005523.6(HOXA11):c.459C>A (p.Asn153Lys)	HOXA11, LOC107126281 (N153K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106553	NM_005523.6(HOXA11):c.328A>G (p.Ser110Gly)	HOXA11, LOC107126281 (S110G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106552	NM_005523.6(HOXA11):c.286G>A (p.Ala96Thr)	HOXA11, LOC107126281 (A96T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106551	NM_005523.6(HOXA11):c.223C>A (p.Pro75Thr)	HOXA11, LOC107126281 (P75T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106550	NM_005523.6(HOXA11):c.222C>A (p.His74Gln)	HOXA11, LOC107126281 (H74Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106549	NM_005523.6(HOXA11):c.10G>C (p.Asp4His)	HOXA11, LOC107126281 (D4H)	Single nucleotide variant (missense variant)	Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 +1 more	GUncertain significance
Select item 3062983	GRCh37/hg19 7p21.1-14.3(chr7:17736012-30663423)x1	ABCB5, CBX3 +75 more	Copy number loss	not specified	GPathogenic
Select item 3062961	GRCh37/hg19 7p21.3-15.2(chr7:13107394-27514163)x1	ABCB5, AGMO +71 more	Copy number loss	not specified	GPathogenic
Select item 3058476	NM_005523.6(HOXA11):c.238G>A (p.Ala80Thr)	HOXA11, LOC107126281 (A80T)	Single nucleotide variant (missense variant)	HOXA11-related disorder	GLikely benign
Select item 3056914	NM_005523.6(HOXA11):c.531GGC[4] (p.Ala183del)	HOXA11, LOC107126281 (A183del)	Microsatellite (inframe_indel)	HOXA11-related disorder	GLikely benign
Select item 3055737	NM_005523.6(HOXA11):c.149A>G (p.Asn50Ser)	HOXA11, LOC107126281 (N50S)	Single nucleotide variant (missense variant)	HOXA11-related disorder	GUncertain significance
Select item 3050064	NM_005523.6(HOXA11):c.609G>T (p.Thr203=)	HOXA11, LOC107126281	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3048034	NM_005523.6(HOXA11):c.714C>A (p.Gly238=)	HOXA11	Single nucleotide variant (synonymous variant)	HOXA11-related disorder	GLikely benign
Select item 3041106	NM_005523.6(HOXA11):c.289_297del (p.Pro97_Ala99del)	HOXA11, LOC107126281	Deletion (inframe_indel)	HOXA11-related disorder	GBenign
Select item 3034459	NM_005523.6(HOXA11):c.295G>A (p.Ala99Thr)	HOXA11, LOC107126281 (A99T)	Single nucleotide variant (missense variant)	HOXA11-related disorder	GLikely benign
Select item 3033369	NM_005523.6(HOXA11):c.236T>C (p.Leu79Pro)	HOXA11, LOC107126281 (L79P)	Single nucleotide variant (missense variant)	HOXA11-related disorder	GLikely benign
Select item 3032005	NM_005523.6(HOXA11):c.391G>A (p.Gly131Ser)	HOXA11, LOC107126281 (G131S)	Single nucleotide variant (missense variant)	HOXA11-related disorder	GUncertain significance
Select item 3031634	NM_005523.6(HOXA11):c.519G>T (p.Thr173=)	HOXA11, LOC107126281	Single nucleotide variant (synonymous variant)	HOXA11-related disorder	GLikely benign
Select item 2671724	NM_005523.6(HOXA11):c.451C>A (p.Pro151Thr)	HOXA11, LOC107126281 (P151T)	Single nucleotide variant (missense variant)	Radioulnar synostosis with amegakaryocytic thrombocytopenia 1	GUncertain significance
Select item 2664263	NM_005523.6(HOXA11):c.775G>A (p.Glu259Lys)	HOXA11 (E259K)	Single nucleotide variant (missense variant)	Inherited genitourinary tract anomalies	GLikely pathogenic
Select item 2636348	NM_005523.6(HOXA11):c.169G>A (p.Val57Met)	HOXA11, LOC107126281 (V57M)	Single nucleotide variant (missense variant)	HOXA11-related disorder	GUncertain significance
Select item 2632062	NM_005523.6(HOXA11):c.124C>G (p.Pro42Ala)	HOXA11, LOC107126281 (P42A)	Single nucleotide variant (missense variant)	HOXA11-related disorder	GUncertain significance
Select item 2630820	NM_005523.6(HOXA11):c.509C>A (p.Pro170Gln)	HOXA11, LOC107126281 (P170Q)	Single nucleotide variant (missense variant)	HOXA11-related disorder	GUncertain significance
Select item 2619047	NM_005523.6(HOXA11):c.340G>A (p.Val114Ile)	HOXA11, LOC107126281 (V114I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554440	NM_005523.6(HOXA11):c.508C>T (p.Pro170Ser)	HOXA11, LOC107126281 (P170S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545259	NM_005523.6(HOXA11):c.595G>T (p.Gly199Cys)	HOXA11, LOC107126281 (G199C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535783	NM_005523.6(HOXA11):c.554G>A (p.Gly185Asp)	HOXA11, LOC107126281 (G185D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443145	NM_005523.6(HOXA11):c.512C>A (p.Ala171Glu)	HOXA11, LOC107126281 (A171E)	Single nucleotide variant (missense variant)	HOXA11-related disorder +1 more	GLikely benign
Select item 2388527	NM_005523.6(HOXA11):c.703G>T (p.Gly235Cys)	HOXA11, LOC107126281 (G235C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324012	NM_005523.6(HOXA11):c.557C>A (p.Ala186Glu)	HOXA11, LOC107126281 (A186E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294310	NM_005523.6(HOXA11):c.532G>A (p.Ala178Thr)	HOXA11, LOC107126281 (A178T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292370	NM_005523.6(HOXA11):c.560C>G (p.Pro187Arg)	HOXA11, LOC107126281 (P187R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286641	NM_005523.6(HOXA11):c.373A>C (p.Asn125His)	HOXA11, LOC107126281 (N125H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279835	NM_005523.6(HOXA11):c.715C>A (p.Gln239Lys)	HOXA11 (Q239K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218370	NM_005523.6(HOXA11):c.604G>C (p.Glu202Gln)	HOXA11, LOC107126281 (E202Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212952	NM_005523.6(HOXA11):c.503G>T (p.Gly168Val)	HOXA11, LOC107126281 (G168V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203766	NM_005523.6(HOXA11):c.881T>G (p.Met294Arg)	HOXA11 (M294R)	Single nucleotide variant (missense variant)	Mesomelic dysplasia with urogenital abnormalities	GLikely pathogenic
Select item 1809660	NM_005523.6(HOXA11):c.679G>C (p.Gly227Arg)	HOXA11, LOC107126281 (G227R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809379	GRCh37/hg19 7p15.2-14.3(chr7:27133786-34466477)x1	ADCYAP1R1, AQP1 +50 more	Copy number loss	not provided	GPathogenic
Select item 1808748	GRCh37/hg19 7p15.2-15.1(chr7:26418391-28323299)x3	EVX1, HIBADH +19 more	Copy number gain	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	DYNC2I1, EEPD1 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703687	GRCh37/hg19 7p15.3-14.3(chr7:25451740-33864069)	ADCYAP1R1, AQP1 +55 more	Copy number loss	Cyclical vomiting syndrome	GPathogenic
Select item 1703560	Single allele	FEZF1, FGL2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1685252	NM_005523.6(HOXA11):c.489G>C (p.Lys163Asn)	HOXA11, LOC107126281 (K163N)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 1675087	NM_005523.6(HOXA11):c.396G>C (p.Arg132Ser)	HOXA11, LOC107126281 (R132S)	Single nucleotide variant (missense variant)	Radioulnar synostosis with amegakaryocytic thrombocytopenia 1	GUncertain significance
Select item 1527336	GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167)	ABCB5, ADCYAP1R1 +117 more	Copy number gain	not specified	GLikely pathogenic
Select item 1336029	NM_005523.6(HOXA11):c.*6C>T	HOXA11	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GBenign/Likely benign
Select item 1313875	NM_005523.6(HOXA11):c.353C>T (p.Pro118Leu)	HOXA11, LOC107126281 (P118L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310318	NM_005523.6(HOXA11):c.332C>T (p.Ser111Leu)	HOXA11, LOC107126281 (S111L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1308754	NM_005523.6(HOXA11):c.348C>G (p.His116Gln)	HOXA11, LOC107126281 (H116Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1306559	NM_005523.6(HOXA11):c.152T>A (p.Leu51Gln)	HOXA11, LOC107126281 (L51Q)	Single nucleotide variant (missense variant)	Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 +1 more	GUncertain significance
Select item 1271651	NC_000007.14:g.27185344T>C	HOXA11	Single nucleotide variant	not provided	GBenign
Select item 1271624	NM_005523.6(HOXA11):c.709+284G>A	HOXA11, LOC107126281	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 988823	NM_005523.6(HOXA11):c.248A>G (p.Tyr83Cys)	LOC107126281, HOXA11 (Y83C)	Single nucleotide variant (missense variant)	Abnormal bleeding +1 more	GUncertain significance
Select item 816805	NM_005523.6(HOXA11):c.304G>A (p.Val102Met)	LOC107126281, HOXA11 (V102M)	Single nucleotide variant (missense variant)	Flexion contracture	GUncertain significance
Select item 814947	GRCh37/hg19 7p15.3-14.3(chr7:23877135-33139446)x1	AVL9, ADCYAP1R1 +61 more	Copy number loss	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	CTAGE4, CTAGE6 +896 more	Copy number gain	not provided	GPathogenic
Select item 599189	NC_000007.13:g.23236782_30690453del7453672	LINC02860, MALSU1 +53 more	Deletion	Silver Russell Syndrome-related disorder	GPathogenic
Select item 443815	GRCh37/hg19 7p15.3-14.3(chr7:24344104-28879357)x1	CBX3, CREB5 +31 more	Copy number loss	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	POLM, POLR1F +896 more	Copy number gain	See cases	GPathogenic
Select item 442824	GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3	ABCB5, ACTB +158 more	Copy number gain	See cases	GPathogenic
Select item 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	ABCA13, ABCB5 +196 more	Copy number gain	See cases	GPathogenic
Select item 435442	NM_005523.6(HOXA11):c.840C>T (p.Leu280=)	HOXA11	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 426639	NM_005523.6(HOXA11):c.625G>A (p.Glu209Lys)	HOXA11, LOC107126281 (E209K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 402244	TMEM106B-BRAF fusion	POT1, POU6F2 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395288	GRCh37/hg19 7p15.3-15.2(chr7:25448425-27578387)x3	CBX3, EVX1 +22 more	Copy number gain	See cases	GLikely pathogenic
Select item 395204	GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3	ABCB5, ADCYAP1R1 +119 more	Copy number gain	See cases	GPathogenic
Select item 253643	GRCh37/hg19 7p15.3-14.3(chr7:22935369-32621975)x1	ADCYAP1R1, AQP1 +68 more	Copy number loss	See cases	GPathogenic

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