ClinVar for Gene (Select 3201) - ClinVar

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Links from Gene

Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3106588	NM_002141.5(HOXA4):c.925C>A (p.His309Asn)	HOXA3, HOXA4 (H309N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106587	NM_002141.5(HOXA4):c.887A>G (p.Lys296Arg)	HOXA3, HOXA4 (K296R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106586	NM_002141.5(HOXA4):c.880C>A (p.Pro294Thr)	HOXA3, HOXA4 (P294T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106585	NM_002141.5(HOXA4):c.770G>A (p.Arg257His)	HOXA3, HOXA4 (R257H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106584	NM_002141.5(HOXA4):c.670C>T (p.Arg224Trp)	HOXA3, HOXA4 (R224W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106583	NM_002141.5(HOXA4):c.652T>C (p.Ser218Pro)	HOXA3, HOXA4 (S218P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106582	NM_002141.5(HOXA4):c.644C>G (p.Pro215Arg)	HOXA3, HOXA4 (P215R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106581	NM_002141.5(HOXA4):c.274G>C (p.Ala92Pro)	HOXA3, HOXA4 (A92P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106580	NM_002141.5(HOXA4):c.154C>T (p.His52Tyr)	HOXA3, HOXA4 (H52Y)	Single nucleotide variant (missense variant +1 more)	not specified	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 3054235	NM_002141.5(HOXA4):c.162G>A (p.Pro54=)	HOXA3, HOXA4	Single nucleotide variant (synonymous variant +1 more)	HOXA4-related disorder	GLikely benign
Select item 3053757	NM_002141.5(HOXA4):c.524G>A (p.Cys175Tyr)	HOXA3, HOXA4 (C175Y)	Single nucleotide variant (missense variant +1 more)	HOXA4-related disorder	GLikely benign
Select item 3052841	NM_002141.5(HOXA4):c.414C>G (p.Pro138=)	HOXA3, HOXA4	Single nucleotide variant (synonymous variant +1 more)	HOXA4-related disorder	GLikely benign
Select item 3052573	NM_002141.5(HOXA4):c.559C>G (p.Leu187Val)	HOXA3, HOXA4 (L187V)	Single nucleotide variant (missense variant +1 more)	HOXA4-related disorder	GLikely benign
Select item 3034411	NM_002141.5(HOXA4):c.243G>C (p.Glu81Asp)	HOXA3, HOXA4 (E81D)	Single nucleotide variant (missense variant +1 more)	HOXA4-related disorder	GLikely benign
Select item 3032651	NM_002141.5(HOXA4):c.285C>T (p.Ala95=)	HOXA3, HOXA4	Single nucleotide variant (synonymous variant +1 more)	HOXA4-related disorder	GLikely benign
Select item 2657364	NM_002141.5(HOXA4):c.102C>A (p.Gly34=)	HOXA3, HOXA4	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2657363	NM_002141.5(HOXA4):c.165G>T (p.Leu55=)	HOXA3, HOXA4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2657362	NM_002141.5(HOXA4):c.319G>A (p.Gly107Ser)	HOXA3, HOXA4 (G107S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2607924	NM_002141.5(HOXA4):c.845G>C (p.Arg282Pro)	HOXA3, HOXA4 (R282P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607923	NM_002141.5(HOXA4):c.104G>A (p.Gly35Asp)	HOXA3, HOXA4 (G35D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598345	NM_002141.5(HOXA4):c.773A>G (p.Gln258Arg)	HOXA3, HOXA4 (Q258R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557867	NM_002141.5(HOXA4):c.268T>C (p.Tyr90His)	HOXA3, HOXA4 (Y90H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545210	NM_002141.5(HOXA4):c.280G>A (p.Gly94Arg)	HOXA3, HOXA4 (G94R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530960	NM_002141.5(HOXA4):c.21G>T (p.Leu7Phe)	HOXA3, HOXA4 (L7F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526769	NM_002141.5(HOXA4):c.5C>T (p.Thr2Ile)	HOXA3, HOXA4 (T2I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489887	NM_002141.5(HOXA4):c.347C>T (p.Pro116Leu)	HOXA3, HOXA4 (P116L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406989	NM_002141.5(HOXA4):c.920A>G (p.His307Arg)	HOXA3, HOXA4 (H307R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401908	NM_002141.5(HOXA4):c.46A>G (p.Lys16Glu)	HOXA3, HOXA4 (K16E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363665	NM_002141.5(HOXA4):c.650G>A (p.Arg217His)	HOXA3, HOXA4 (R217H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362069	NM_002141.5(HOXA4):c.217T>C (p.Tyr73His)	HOXA3, HOXA4 (Y73H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355884	NM_002141.5(HOXA4):c.376C>G (p.Pro126Ala)	HOXA3, HOXA4 (P126A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346797	NM_002141.5(HOXA4):c.133C>G (p.Pro45Ala)	HOXA3, HOXA4 (P45A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331912	NM_002141.5(HOXA4):c.362C>A (p.Ala121Glu)	HOXA3, HOXA4 (A121E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315380	NM_002141.5(HOXA4):c.215C>T (p.Ser72Phe)	HOXA3, HOXA4 (S72F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313365	NM_002141.5(HOXA4):c.425C>T (p.Pro142Leu)	HOXA3, HOXA4 (P142L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286931	NM_002141.5(HOXA4):c.919C>T (p.His307Tyr)	HOXA3, HOXA4 (H307Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269018	NM_002141.5(HOXA4):c.823A>G (p.Lys275Glu)	HOXA3, HOXA4 (K275E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264570	NM_002141.5(HOXA4):c.9G>T (p.Met3Ile)	HOXA3, HOXA4 (M3I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263198	NM_002141.5(HOXA4):c.100G>T (p.Gly34Cys)	HOXA3, HOXA4 (G34C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261982	NM_002141.5(HOXA4):c.374G>T (p.Gly125Val)	HOXA3, HOXA4 (G125V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247352	NM_002141.5(HOXA4):c.56C>T (p.Pro19Leu)	HOXA3, HOXA4 (P19L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235867	NM_002141.5(HOXA4):c.101G>C (p.Gly34Ala)	HOXA3, HOXA4 (G34A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224222	NM_002141.5(HOXA4):c.911T>G (p.Leu304Arg)	HOXA3, HOXA4 (L304R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223732	NM_002141.5(HOXA4):c.650G>T (p.Arg217Leu)	HOXA3, HOXA4 (R217L)	Single nucleotide variant (missense variant +1 more)	not specified	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 1278464	NM_002141.5(HOXA4):c.*332G>C	HOXA3, HOXA4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1270022	NM_002141.5(HOXA4):c.*254T>C	HOXA3, HOXA4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1269767	NM_002141.5(HOXA4):c.208A>C (p.Thr70Pro)	HOXA3, HOXA4 (T70P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1268576	NM_002141.5(HOXA4):c.616+120A>G	HOXA3, HOXA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266176	NM_002141.5(HOXA4):c.617-198T>G	HOXA3, HOXA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259086	NM_153631.3(HOXA3):c.-389-3894G>A	HOXA3, HOXA4 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256657	NM_002141.5(HOXA4):c.714A>C (p.Arg238=)	HOXA3, HOXA4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1244153	NM_002141.5(HOXA4):c.617-179A>G	HOXA3, HOXA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237183	NM_002141.5(HOXA4):c.194G>A (p.Gly65Asp)	HOXA3, HOXA4 (G65D)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1231880	NM_002141.5(HOXA4):c.419T>C (p.Leu140Pro)	HOXA3, HOXA4 (L140P)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1224804	NM_153631.3(HOXA3):c.-389-4017C>T	HOXA3, HOXA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182927	NM_002141.5(HOXA4):c.*125G>A	HOXA4, HOXA3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
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 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 253643	GRCh37/hg19 7p15.3-14.3(chr7:22935369-32621975)x1	ADCYAP1R1, AQP1 +68 more	Copy number loss	See cases	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 147609	GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1	ABCB5, ADCYAP1R1 +387 more	Copy number loss	See cases	GPathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 144929	GRCh38/hg38 7p21.1-15.2(chr7:20210912-27849400)x1	LOC111365192, LOC111413014 +281 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 86