HOXA1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 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
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 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 more	Copy number gain	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 147609	GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1	ABCB5, ADCYAP1R1 +387 more	Copy number loss	See cases	GPathogenic
Select item 911451	NM_005522.5(HOXA1):c.*1437A>G	HOXA1	Single nucleotide variant (3 prime UTR variant)	Human HOXA1 syndromes	GLikely benign
Select item 359942	NM_005522.5(HOXA1):c.*1387C>G	HOXA1	Single nucleotide variant (3 prime UTR variant)	Bosley-Salih-Alorainy syndrome	GUncertain significance
Select item 359943	NM_005522.5(HOXA1):c.*1345T>C	HOXA1	Single nucleotide variant (3 prime UTR variant)	Bosley-Salih-Alorainy syndrome	GUncertain significance
Select item 359944	NM_005522.5(HOXA1):c.*1150C>T	HOXA1	Single nucleotide variant (3 prime UTR variant)	Bosley-Salih-Alorainy syndrome	GUncertain significance
Select item 908469	NM_005522.5(HOXA1):c.*1090C>T	HOXA1	Single nucleotide variant (3 prime UTR variant)	Human HOXA1 syndromes	GBenign
Select item 908470	NM_005522.5(HOXA1):c.*1058T>A	HOXA1	Single nucleotide variant (3 prime UTR variant)	Human HOXA1 syndromes	GUncertain significance
Select item 908471	NM_005522.5(HOXA1):c.*980C>G	HOXA1	Single nucleotide variant (3 prime UTR variant)	Human HOXA1 syndromes	GUncertain significance
Select item 359945	NM_005522.5(HOXA1):c.*953G>A	HOXA1	Single nucleotide variant (3 prime UTR variant)	Bosley-Salih-Alorainy syndrome	GUncertain significance
Select item 359946	NM_005522.5(HOXA1):c.*907A>G	HOXA1	Single nucleotide variant (3 prime UTR variant)	Bosley-Salih-Alorainy syndrome	GLikely benign
Select item 908472	NM_005522.5(HOXA1):c.*820A>G	HOXA1	Single nucleotide variant (3 prime UTR variant)	Human HOXA1 syndromes	GUncertain significance
Select item 359947	NM_005522.5(HOXA1):c.*563G>C	HOXA1	Single nucleotide variant (3 prime UTR variant)	Bosley-Salih-Alorainy syndrome	GUncertain significance
Select item 359948	NM_005522.5(HOXA1):c.*470T>A	HOXA1	Single nucleotide variant (3 prime UTR variant)	Bosley-Salih-Alorainy syndrome	GLikely benign
Select item 909316	NM_005522.5(HOXA1):c.*345C>T	HOXA1	Single nucleotide variant (3 prime UTR variant)	Human HOXA1 syndromes	GUncertain significance
Select item 909317	NM_005522.5(HOXA1):c.*337G>A	HOXA1	Single nucleotide variant (3 prime UTR variant)	Human HOXA1 syndromes	GUncertain significance
Select item 359949	NM_005522.5(HOXA1):c.*331C>A	HOXA1	Single nucleotide variant (3 prime UTR variant)	Bosley-Salih-Alorainy syndrome	GUncertain significance
Select item 909318	NM_005522.5(HOXA1):c.*281C>G	HOXA1	Single nucleotide variant (3 prime UTR variant)	Human HOXA1 syndromes	GUncertain significance
Select item 359950	NM_005522.5(HOXA1):c.*250G>C	HOXA1	Single nucleotide variant (3 prime UTR variant)	Bosley-Salih-Alorainy syndrome	GUncertain significance
Select item 909319	NM_005522.5(HOXA1):c.*232G>A	HOXA1	Single nucleotide variant (3 prime UTR variant)	Human HOXA1 syndromes	GUncertain significance
Select item 909320	NM_005522.5(HOXA1):c.*183G>C	HOXA1	Single nucleotide variant (3 prime UTR variant)	Human HOXA1 syndromes	GUncertain significance
Select item 359951	NM_005522.5(HOXA1):c.*183G>A	HOXA1	Single nucleotide variant (3 prime UTR variant)	Human HOXA1 syndromes +1 more	GUncertain significance
Select item 359952	NM_005522.5(HOXA1):c.*181G>A	HOXA1	Single nucleotide variant (3 prime UTR variant)	Bosley-Salih-Alorainy syndrome	GUncertain significance
Select item 359953	NM_005522.5(HOXA1):c.*56C>A	HOXA1	Single nucleotide variant (3 prime UTR variant)	Bosley-Salih-Alorainy syndrome +1 more	GBenign/Likely benign
Select item 1769096	NM_005522.5(HOXA1):c.1001C>T (p.Ser334Phe)	HOXA1 (S334F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1768310	NM_005522.5(HOXA1):c.981C>T (p.Thr327=)	HOXA1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1768070	NM_005522.5(HOXA1):c.974C>T (p.Ser325Phe)	HOXA1 (S325F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3106541	NM_005522.5(HOXA1):c.958G>C (p.Val320Leu)	HOXA1 (V320L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 589649	NM_005522.5(HOXA1):c.957C>T (p.Cys319=)	HOXA1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2527649	NM_005522.5(HOXA1):c.907A>C (p.Asn303His)	HOXA1 (N303H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 359954	NM_005522.5(HOXA1):c.825C>T (p.Ile275=)	HOXA1	Single nucleotide variant (synonymous variant +1 more)	Bosley-Salih-Alorainy syndrome	GUncertain significance
Select item 910288	NM_005522.5(HOXA1):c.813C>T (p.Thr271=)	HOXA1	Single nucleotide variant (synonymous variant +1 more)	Human HOXA1 syndromes	GUncertain significance
Select item 3067842	NM_005522.5(HOXA1):c.806A>G (p.Asn269Ser)	HOXA1 (N269S)	Single nucleotide variant (missense variant +1 more)	Human HOXA1 syndromes	GUncertain significance
Select item 2551307	NM_005522.5(HOXA1):c.796C>G (p.Leu266Val)	HOXA1 (L266V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1760947	NM_005522.5(HOXA1):c.786C>T (p.Ile262=)	HOXA1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 588637	NM_005522.5(HOXA1):c.778G>A (p.Val260Met)	HOXA1 (V260M)	Single nucleotide variant (missense variant +1 more)	HOXA1-related disorder +1 more	GUncertain significance
Select item 2306898	NM_005522.5(HOXA1):c.766C>T (p.Arg256Cys)	HOXA1 (R256C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 359955	NM_005522.5(HOXA1):c.741G>A (p.Glu247=)	HOXA1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 589311	NM_005522.5(HOXA1):c.714C>G (p.Thr238=)	HOXA1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1756815	NM_005522.5(HOXA1):c.703A>C (p.Asn235His)	HOXA1 (N235H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 359956	NM_005522.5(HOXA1):c.691G>A (p.Ala231Thr)	HOXA1 (A231T)	Single nucleotide variant (missense variant +1 more)	Bosley-Salih-Alorainy syndrome	GUncertain significance
Select item 910289	NM_005522.5(HOXA1):c.686C>A (p.Pro229His)	HOXA1 (P229H)	Single nucleotide variant (missense variant +1 more)	Human HOXA1 syndromes	GUncertain significance
Select item 287899	NM_005522.5(HOXA1):c.684A>G (p.Gln228=)	HOXA1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 729844	NM_005522.5(HOXA1):c.676C>T (p.Leu226=)	HOXA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1332723	NM_005522.5(HOXA1):c.669C>A (p.Tyr223Ter)	HOXA1 (Y223*)	Single nucleotide variant (nonsense +1 more)	Human HOXA1 syndromes	GLikely pathogenic
Select item 359957	NM_005522.5(HOXA1):c.653-12A>G	HOXA1	Single nucleotide variant (intron variant)	Bosley-Salih-Alorainy syndrome	GUncertain significance
Select item 1239659	NM_005522.5(HOXA1):c.653-224G>A	HOXA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3106540	NM_005522.5(HOXA1):c.575G>A (p.Arg192His)	HOXA1 (R192H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 359958	NM_005522.5(HOXA1):c.566A>C (p.Glu189Ala)	HOXA1 (E189A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 975716	NM_005522.5(HOXA1):c.562C>A (p.Gln188Lys)	HOXA1 (P120Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 359959	NM_005522.5(HOXA1):c.552C>A (p.His184Gln)	HOXA1 (H184Q)	Single nucleotide variant (missense variant +1 more)	Bosley-Salih-Alorainy syndrome +1 more	GUncertain significance
Select item 359960	NM_005522.5(HOXA1):c.549C>A (p.Leu183=)	HOXA1	Single nucleotide variant (synonymous variant +1 more)	Bosley-Salih-Alorainy syndrome	GUncertain significance
Select item 2358398	NM_005522.5(HOXA1):c.548T>C (p.Leu183Pro)	HOXA1 (L183P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 359961	NM_005522.5(HOXA1):c.546T>C (p.Pro182=)	HOXA1	Single nucleotide variant (synonymous variant +1 more)	Bosley-Salih-Alorainy syndrome	GUncertain significance
Select item 2294890	NM_005522.5(HOXA1):c.528TAA[1] (p.Asn178del)	HOXA1 (N178del)	Microsatellite (inframe_deletion +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1745541	NM_005522.5(HOXA1):c.512T>C (p.Leu171Pro)	HOXA1 (L171P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 705897	NM_005522.5(HOXA1):c.510C>T (p.Ser170=)	HOXA1	Single nucleotide variant (synonymous variant +1 more)	HOXA1-related disorder +1 more	GLikely benign
Select item 1744098	NM_005522.5(HOXA1):c.491A>G (p.Tyr164Cys)	HOXA1 (Y164C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2317895	NM_005522.5(HOXA1):c.490T>C (p.Tyr164His)	HOXA1 (Y164H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1743893	NM_005522.5(HOXA1):c.489A>G (p.Ser163=)	HOXA1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 359962	NM_005522.5(HOXA1):c.436C>A (p.His146Asn)	HOXA1, HOXA2 (H146N)	Single nucleotide variant (missense variant +1 more)	Bilateral microtia-deafness-cleft palate syndrome +3 more	GBenign/Likely benign
Select item 359963	NM_005522.5(HOXA1):c.435C>T (p.His145=)	HOXA1	Single nucleotide variant (synonymous variant +1 more)	Bosley-Salih-Alorainy syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2372473	NM_005522.5(HOXA1):c.385G>T (p.Ala129Ser)	HOXA1 (A129S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1731722	NM_005522.5(HOXA1):c.346G>A (p.Glu116Lys)	HOXA1 (E116K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2657358	NM_005522.5(HOXA1):c.329C>T (p.Pro110Leu)	HOXA1 (P110L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 911504	NM_005522.5(HOXA1):c.294C>G (p.Ser98Arg)	HOXA1 (S98R)	Single nucleotide variant (missense variant)	Human HOXA1 syndromes	GUncertain significance
Select item 2229665	NM_005522.5(HOXA1):c.272C>G (p.Ser91Cys)	HOXA1 (S91C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 359964	NM_005522.5(HOXA1):c.255C>G (p.Asn85Lys)	HOXA1 (N85K)	Single nucleotide variant (missense variant)	Bosley-Salih-Alorainy syndrome	GUncertain significance
Select item 2269744	NM_005522.5(HOXA1):c.248C>T (p.Ser83Phe)	HOXA1 (S83F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 589576	NM_005522.5(HOXA1):c.248C>G (p.Ser83Cys)	HOXA1 (S83C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1205948	NM_005522.5(HOXA1):c.215_223del (p.His72_His74del)	HOXA1	Deletion (inframe_deletion)	not provided	GBenign
Select item 3051297	NM_005522.5(HOXA1):c.216_221del (p.Arg73_His74del)	HOXA1	Deletion (inframe deletion)	HOXA1-related disorder	GLikely benign
Select item 701069	NM_005522.5(HOXA1):c.218= (p.Arg73=)	HOXA1	Variation (no sequence alteration)	not provided	GBenign
Select item 369585	NM_005522.5(HOXA1):c.218G>A (p.Arg73His)	HOXA1, HOXA2 (R73H)	Single nucleotide variant (missense variant)	Bilateral microtia-deafness-cleft palate syndrome	GBenign
Select item 369584	NM_005522.5(HOXA1):c.216_218del (p.Arg73del)	HOXA1, HOXA2 (R73del)	Deletion (inframe_deletion)	Bilateral microtia-deafness-cleft palate syndrome	GLikely benign
Select item 588681	NM_005522.5(HOXA1):c.192CCA[10] (p.His71_His72dup)	HOXA1	Microsatellite (inframe_insertion)	HOXA1-related disorder +1 more	GLikely benign
Select item 587896	NM_005522.5(HOXA1):c.192CCA[11] (p.His70_His72dup)	HOXA1	Microsatellite (inframe_insertion)	Inborn genetic diseases	GLikely benign
Select item 587851	NM_005522.5(HOXA1):c.192CCA[9] (p.His72dup)	HOXA1	Microsatellite (inframe_insertion)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 359965	NM_005522.5(HOXA1):c.216T>C (p.His72=)	HOXA1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 588418	NM_005522.5(HOXA1):c.192CCA[6] (p.His71_His72del)	HOXA1	Microsatellite (inframe_deletion)	Inborn genetic diseases	GLikely benign
Select item 588087	NM_005522.5(HOXA1):c.192CCA[7] (p.His72del)	HOXA1 (H72del)	Microsatellite (inframe_deletion)	not provided +2 more	GLikely benign
Select item 587887	NM_005522.5(HOXA1):c.192CCA[5] (p.His70_His72del)	HOXA1	Microsatellite (inframe_deletion)	Inborn genetic diseases +1 more	GBenign
Select item 156710	NM_005522.5(HOXA1):c.215A>C (p.His72Pro)	HOXA1 (H72P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 359966	NM_005522.5(HOXA1):c.213C>T (p.His71=)	HOXA1, HOXA2	Single nucleotide variant (synonymous variant)	Bilateral microtia-deafness-cleft palate syndrome +4 more	GBenign/Likely benign
Select item 908535	NM_005522.5(HOXA1):c.210C>T (p.His70=)	HOXA1	Single nucleotide variant (synonymous variant)	Human HOXA1 syndromes	GUncertain significance
Select item 359967	NM_005522.5(HOXA1):c.207C>T (p.His69=)	HOXA1	Single nucleotide variant (synonymous variant)	HOXA1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 359968	NM_005522.5(HOXA1):c.196C>T (p.His66Tyr)	HOXA1 (H66Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 359969	NM_005522.5(HOXA1):c.194A>C (p.His65Pro)	HOXA1 (H65P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2376650	NM_005522.5(HOXA1):c.188C>T (p.Ser63Leu)	HOXA1 (S63L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 14901	NM_005522.5(HOXA1):c.185del (p.Gly62fs)	HOXA1 (G62fs)	Deletion (frameshift variant)	Bosley-Salih-Alorainy syndrome	GPathogenic
Select item 14898	NM_005522.5(HOXA1):c.175dup (p.Val59fs)	HOXA1 (V59fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 587842	NM_005522.5(HOXA1):c.174G>C (p.Gly58=)	HOXA1	Single nucleotide variant (synonymous variant)	Human HOXA1 syndromes +2 more	GBenign/Likely benign
Select item 359970	NM_005522.5(HOXA1):c.165G>A (p.Val55=)	HOXA1	Single nucleotide variant (synonymous variant)	Bosley-Salih-Alorainy syndrome	GUncertain significance
Select item 1775012	NM_005522.5(HOXA1):c.154C>G (p.Arg52Gly)	HOXA1 (R52G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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