ClinVar for Gene (Select 3199) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358374	NM_006735.4(HOXA2):c.334GCC[9] (p.Ala117_Thr118insAlaAlaAla)	HOXA2	Microsatellite (inframe_insertion)	HOXA2-related disorder	GLikely benign
Select item 3357785	NM_006735.4(HOXA2):c.271C>T (p.Gln91Ter)	HOXA2 (Q91*)	Single nucleotide variant (nonsense)	HOXA2-related disorder	GLikely pathogenic
Select item 3344677	NM_006735.4(HOXA2):c.334GCC[5] (p.Ala117del)	HOXA2 (A117del)	Microsatellite (inframe_deletion)	HOXA2-related disorder	GLikely benign
Select item 3284632	NM_006735.4(HOXA2):c.86C>G (p.Ala29Gly)	HOXA2 (A29G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284631	NM_006735.4(HOXA2):c.116C>A (p.Thr39Asn)	HOXA2 (T39N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3245865	NC_000007.13:g.(?_26232136)_(28172587_?)del	CBX3, EVX1 +22 more	Deletion	not provided	GPathogenic
Select item 3106566	NM_006735.4(HOXA2):c.872C>T (p.Ser291Leu)	HOXA2 (S291L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106565	NM_006735.4(HOXA2):c.787A>G (p.Asn263Asp)	HOXA2 (N263D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106564	NM_006735.4(HOXA2):c.686A>C (p.Glu229Ala)	HOXA2 (E229A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106563	NM_006735.4(HOXA2):c.678C>G (p.Asp226Glu)	HOXA2 (D226E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106562	NM_006735.4(HOXA2):c.609G>T (p.Gln203His)	HOXA2 (Q203H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106561	NM_006735.4(HOXA2):c.281A>G (p.Glu94Gly)	HOXA2 (E94G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106560	NM_006735.4(HOXA2):c.251C>G (p.Pro84Arg)	HOXA2 (P84R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106559	NM_006735.4(HOXA2):c.166A>G (p.Ile56Val)	HOXA2 (I56V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3052799	NM_006735.4(HOXA2):c.1006C>A (p.Leu336Ile)	HOXA2 (L336I)	Single nucleotide variant (missense variant)	HOXA2-related disorder	GLikely benign
Select item 3045879	NM_006735.4(HOXA2):c.256C>A (p.Pro86Thr)	HOXA2 (P86T)	Single nucleotide variant (missense variant)	HOXA2-related disorder	GUncertain significance
Select item 3040678	NM_006735.4(HOXA2):c.865C>T (p.His289Tyr)	HOXA2 (H289Y)	Single nucleotide variant (missense variant)	HOXA2-related disorder	GLikely benign
Select item 3036994	NM_006735.4(HOXA2):c.879T>G (p.Thr293=)	HOXA2	Single nucleotide variant (synonymous variant)	HOXA2-related disorder	GLikely benign
Select item 3036702	NM_006735.4(HOXA2):c.597G>A (p.Lys199=)	HOXA2	Single nucleotide variant (synonymous variant)	HOXA2-related disorder	GLikely benign
Select item 3035843	NM_006735.4(HOXA2):c.954G>A (p.Glu318=)	HOXA2	Single nucleotide variant (synonymous variant)	HOXA2-related disorder	GLikely benign
Select item 3029050	NM_006735.4(HOXA2):c.391+10A>C	HOXA2	Single nucleotide variant (intron variant)	HOXA2-related disorder	GLikely benign
Select item 2682966	NM_006735.4(HOXA2):c.334GCC[2] (p.Ala114_Ala117del)	HOXA2	Microsatellite (inframe deletion)	not provided	GUncertain significance
Select item 2657360	NM_006735.4(HOXA2):c.806C>T (p.Ser269Phe)	HOXA2 (S269F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2636376	NM_006735.4(HOXA2):c.1009T>A (p.Ser337Thr)	HOXA2 (S337T)	Single nucleotide variant (missense variant)	HOXA2-related disorder	GUncertain significance
Select item 2632947	NM_006735.4(HOXA2):c.687_691del (p.Glu229fs)	HOXA2 (E229fs)	Microsatellite (frameshift variant)	HOXA2-related disorder	GPathogenic
Select item 2631989	NM_006735.4(HOXA2):c.334GCC[3] (p.Ala115_Ala117del)	HOXA2	Microsatellite (inframe_deletion)	HOXA2-related disorder	GUncertain significance
Select item 2549982	NM_006735.4(HOXA2):c.692C>T (p.Thr231Met)	HOXA2 (T231M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514052	NM_006735.4(HOXA2):c.608A>T (p.Gln203Leu)	HOXA2 (Q203L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482829	NM_006735.4(HOXA2):c.308C>A (p.Ala103Glu)	HOXA2 (A103E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462054	NM_006735.4(HOXA2):c.114G>C (p.Lys38Asn)	HOXA2 (K38N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454553	NM_006735.4(HOXA2):c.425G>A (p.Gly142Glu)	HOXA2 (G142E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397074	NM_006735.4(HOXA2):c.952G>C (p.Glu318Gln)	HOXA2 (E318Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395706	NM_006735.4(HOXA2):c.988A>G (p.Thr330Ala)	HOXA2 (T330A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391303	NM_006735.4(HOXA2):c.706G>A (p.Ala236Thr)	HOXA2 (A236T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367906	NM_006735.4(HOXA2):c.814T>G (p.Phe272Val)	HOXA2 (F272V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346692	NM_006735.4(HOXA2):c.785C>A (p.Pro262His)	HOXA2 (P262H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322146	NM_006735.4(HOXA2):c.421G>A (p.Gly141Arg)	HOXA2 (G141R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296747	NM_006735.4(HOXA2):c.1087A>G (p.Thr363Ala)	HOXA2 (T363A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277955	NM_006735.4(HOXA2):c.830T>C (p.Leu277Ser)	HOXA2 (L277S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256916	NM_006735.4(HOXA2):c.785C>T (p.Pro262Leu)	HOXA2 (P262L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206768	NM_006735.4(HOXA2):c.145C>G (p.Pro49Ala)	HOXA2 (P49A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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	AASS, ABCA13 +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	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527344	GRCh37/hg19 7p15.2(chr7:26270121-27193008)	HOTAIRM1, HOXA1 +8 more	Copy number gain	not specified	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 1319942	NM_006735.4(HOXA2):c.235_242del (p.Gly79fs)	HOXA2 (G79fs)	Deletion (frameshift variant)	Bilateral microtia-deafness-cleft palate syndrome	GPathogenic
Select item 1289147	NM_006735.4(HOXA2):c.391+72G>C	HOXA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273071	NM_006735.4(HOXA2):c.392-183=	HOXA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241319	NC_000007.14:g.27102975TG[10]	HOXA2	Microsatellite	not provided	GBenign
Select item 1120100	NM_006735.4(HOXA2):c.50C>A (p.Ser17Ter)	HOXA2 (S17*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 1033141	NM_006735.4(HOXA2):c.1006C>G (p.Leu336Val)	HOXA2 (L336V)	Single nucleotide variant (missense variant)	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance
Select item 1025270	NM_006735.4(HOXA2):c.193C>G (p.Pro65Ala)	HOXA2 (P65A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 911563	NM_006735.4(HOXA2):c.970G>A (p.Asp324Asn)	HOXA2 (D324N)	Single nucleotide variant (missense variant)	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance
Select item 911562	NM_006735.4(HOXA2):c.979G>A (p.Val327Ile)	HOXA2 (V327I)	Single nucleotide variant (missense variant)	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance
Select item 911561	NM_006735.4(HOXA2):c.1065A>G (p.Ser355=)	HOXA2	Single nucleotide variant (synonymous variant)	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance
Select item 911560	NM_006735.4(HOXA2):c.*65T>C	HOXA2	Single nucleotide variant (3 prime UTR variant)	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance
Select item 910352	NM_006735.4(HOXA2):c.*193G>C	HOXA2	Single nucleotide variant (3 prime UTR variant)	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance
Select item 910351	NM_006735.4(HOXA2):c.*209T>C	HOXA2	Single nucleotide variant (3 prime UTR variant)	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance
Select item 910350	NM_006735.4(HOXA2):c.*338T>C	HOXA2	Single nucleotide variant (3 prime UTR variant)	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance
Select item 910349	NM_006735.3(HOXA2):c.*385C>T	HOXA2	Single nucleotide variant	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance
Select item 909470	NM_006735.4(HOXA2):c.-18G>A	HOXA2	Single nucleotide variant (5 prime UTR variant)	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance
Select item 909469	NM_006735.4(HOXA2):c.15T>A (p.Phe5Leu)	HOXA2 (F5L)	Single nucleotide variant (missense variant)	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance
Select item 909468	NM_006735.4(HOXA2):c.80C>G (p.Pro27Arg)	HOXA2 (P27R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 909467	NM_006735.4(HOXA2):c.201C>T (p.His67=)	HOXA2	Single nucleotide variant (synonymous variant)	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance
Select item 909466	NM_006735.4(HOXA2):c.333G>A (p.Pro111=)	HOXA2	Single nucleotide variant (synonymous variant)	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance
Select item 908611	NM_006735.4(HOXA2):c.338C>T (p.Ala113Val)	HOXA2 (A113V)	Single nucleotide variant (missense variant)	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance
Select item 908610	NM_006735.4(HOXA2):c.352A>G (p.Thr118Ala)	HOXA2 (T118A)	Single nucleotide variant (missense variant)	Bilateral microtia-deafness-cleft palate syndrome +1 more	GConflicting classifications of pathogenicity
Select item 908609	NM_006735.4(HOXA2):c.707C>A (p.Ala236Asp)	HOXA2 (A236D)	Single nucleotide variant (missense variant)	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance
Select item 814947	GRCh37/hg19 7p15.3-14.3(chr7:23877135-33139446)x1	FKBP14, HNRNPA2B1 +61 more	Copy number loss	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 599189	NC_000007.13:g.23236782_30690453del7453672	NFE2L3, NOD1 +53 more	Deletion	Silver Russell Syndrome-related disorder	GPathogenic
Select item 522589	NM_006735.4(HOXA2):c.670G>T (p.Glu224Ter)	HOXA2 (E224*)	Single nucleotide variant (nonsense)	MICROTIA WITHOUT HEARING IMPAIRMENT	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	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +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	RP9, SCIN +196 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +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 369585	NC_000007.14:g.27095695C>T	HOXA1, HOXA2 (R73H)	Single nucleotide variant (missense variant)	Bilateral microtia-deafness-cleft palate syndrome	GBenign
Select item 369584	NC_000007.14:g.27095695_27095697del	HOXA1, HOXA2 (R73del)	Deletion (inframe_deletion)	Bilateral microtia-deafness-cleft palate syndrome	GLikely benign
Select item 359989	NM_006735.3(HOXA2):c.-215T>C	HOXA2	Single nucleotide variant	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance
Select item 359988	NM_006735.3(HOXA2):c.-193T>C	HOXA2	Single nucleotide variant	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance
Select item 359987	NM_006735.4(HOXA2):c.-140T>C	HOXA2	Single nucleotide variant (5 prime UTR variant)	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance
Select item 359986	NM_006735.4(HOXA2):c.-136A>G	HOXA2	Single nucleotide variant (5 prime UTR variant)	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance
Select item 359985	NM_006735.4(HOXA2):c.-58C>G	HOXA2	Single nucleotide variant (5 prime UTR variant)	Bilateral microtia-deafness-cleft palate syndrome	GLikely benign
Select item 359984	NM_006735.4(HOXA2):c.-57C>T	HOXA2	Single nucleotide variant (5 prime UTR variant)	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance
Select item 359983	NM_006735.4(HOXA2):c.389A>G (p.Lys130Arg)	HOXA2 (K130R)	Single nucleotide variant (missense variant)	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance
Select item 359982	NM_006735.4(HOXA2):c.394T>A (p.Ser132Thr)	HOXA2 (S132T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 359981	NM_006735.4(HOXA2):c.420C>T (p.Gly140=)	HOXA2	Single nucleotide variant (synonymous variant)	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance
Select item 359980	NM_006735.4(HOXA2):c.807C>A (p.Ser269=)	HOXA2	Single nucleotide variant (synonymous variant)	Bilateral microtia-deafness-cleft palate syndrome +1 more	GUncertain significance
Select item 359979	NM_006735.4(HOXA2):c.1005G>A (p.Gln335=)	HOXA2	Single nucleotide variant (synonymous variant)	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance
Select item 359978	NM_006735.4(HOXA2):c.*30A>G	HOXA2	Single nucleotide variant (3 prime UTR variant)	Bilateral microtia-deafness-cleft palate syndrome	GUncertain significance
Select item 359977	NM_006735.4(HOXA2):c.*108C>T	HOXA1, HOXA2	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GLikely benign

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