LOC107126288[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	ABCB5, ACTB +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	LOC126860013, LOC126860014 +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	LOC129997985, LOC129997986 +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 58544	GRCh38/hg38 7p15.2(chr7:27154807-27422335)x1	EVX1, EVX1-AS +15 more	Copy number loss	See cases	GPathogenic
Select item 2824317	NM_000522.5(HOXA13):c.923-3T>C	HOXA13, LOC107126288	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1295094	NM_000522.5(HOXA13):c.922+84G>C	HOXA13, LOC107126288	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2959307	NM_000522.5(HOXA13):c.922+13C>T	HOXA13, LOC107126288	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1497961	NM_000522.5(HOXA13):c.921C>G (p.Pro307=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1643421	NM_000522.5(HOXA13):c.897C>T (p.Pro299=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2524905	NM_000522.5(HOXA13):c.887C>A (p.Ala296Glu)	HOXA13, LOC107126288 (A296E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1899328	NM_000522.5(HOXA13):c.870C>T (p.Tyr290=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1801485	NM_000522.5(HOXA13):c.869A>C (p.Tyr290Ser)	HOXA13, LOC107126288 (Y290S)	Single nucleotide variant (missense variant)	Hand-foot-genital syndrome	GLikely pathogenic
Select item 1985046	NM_000522.5(HOXA13):c.850G>A (p.Gly284Ser)	HOXA13, LOC107126288 (G284S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3033277	NM_000522.5(HOXA13):c.849C>T (p.Asn283=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	HOXA13-related condition	GLikely benign
Select item 2325454	NM_000522.5(HOXA13):c.848A>G (p.Asn283Ser)	LOC107126288, HOXA13 (N283S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491946	NM_000522.5(HOXA13):c.784G>T (p.Gly262Cys)	HOXA13, LOC107126288 (G262C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2177486	NM_000522.5(HOXA13):c.784G>A (p.Gly262Ser)	HOXA13, LOC107126288 (G262S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1805747	NM_000522.5(HOXA13):c.741dup (p.Gly248fs)	HOXA13, LOC107126288 (G248fs)	Duplication (frameshift variant)	Hand-foot-genital syndrome	GLikely pathogenic
Select item 1636847	NM_000522.5(HOXA13):c.678G>A (p.Lys226=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2414284	NM_000522.5(HOXA13):c.662T>A (p.Phe221Tyr)	HOXA13, LOC107126288 (F221Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2634941	NM_000522.5(HOXA13):c.652G>A (p.Ala218Thr)	HOXA13, LOC107126288 (A218T)	Single nucleotide variant (missense variant)	HOXA13-related condition	GUncertain significance
Select item 2455711	NM_000522.5(HOXA13):c.644G>A (p.Gly215Asp)	HOXA13, LOC107126288 (G215D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 376765	NM_000522.5(HOXA13):c.633G>T (p.Met211Ile)	HOXA13, LOC107126288 (M211I)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2233062	NM_000522.5(HOXA13):c.631A>T (p.Met211Leu)	LOC107126288, HOXA13 (M211L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2052430	NM_000522.5(HOXA13):c.598GCC[7] (p.Ala205_Phe206insAla)	HOXA13, LOC107126288	Microsatellite (inframe_insertion)	not provided	GLikely benign
Select item 1352406	NM_000522.5(HOXA13):c.598GCC[4] (p.Ala204_Ala205del)	HOXA13, LOC107126288	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2324533	NM_000522.5(HOXA13):c.614C>T (p.Ala205Val)	HOXA13, LOC107126288 (A205V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1337545	NM_000522.5(HOXA13):c.603C>T (p.Ala201=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 3003510	NM_000522.5(HOXA13):c.597_599dup (p.Ala205_Phe206insAla)	HOXA13, LOC107126288	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2418455	NM_000522.5(HOXA13):c.591C>G (p.Pro197=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 731707	NM_000522.5(HOXA13):c.591C>A (p.Pro197=)	LOC107126288, HOXA13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2081967	NM_000522.5(HOXA13):c.588G>A (p.Gln196=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2776841	NM_000522.5(HOXA13):c.579G>A (p.Ser193=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 729857	NM_000522.5(HOXA13):c.575A>G (p.Lys192Arg)	HOXA13, LOC107126288 (K192R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3047699	NM_000522.5(HOXA13):c.566A>G (p.Asn189Ser)	HOXA13, LOC107126288 (N189S)	Single nucleotide variant (missense variant)	HOXA13-related condition	GUncertain significance
Select item 2711149	NM_000522.5(HOXA13):c.562C>G (p.Pro188Ala)	HOXA13, LOC107126288 (P188A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 743572	NM_000522.5(HOXA13):c.561C>T (p.His187=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2215150	NM_000522.5(HOXA13):c.544G>T (p.Ala182Ser)	HOXA13, LOC107126288 (A182S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286586	NM_000522.5(HOXA13):c.538C>T (p.Pro180Ser)	HOXA13, LOC107126288 (P180S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460922	NM_000522.5(HOXA13):c.529G>A (p.Gly177Ser)	HOXA13, LOC107126288 (G177S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2194654	NM_000522.5(HOXA13):c.529G>C (p.Gly177Arg)	HOXA13, LOC107126288 (G177R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1306688	NM_000522.5(HOXA13):c.527G>A (p.Ser176Asn)	HOXA13, LOC107126288 (S176N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2210432	NM_000522.5(HOXA13):c.505C>G (p.Leu169Val)	HOXA13, LOC107126288 (L169V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2181854	NM_000522.5(HOXA13):c.504_505delinsAG (p.Leu169Val)	HOXA13, LOC107126288 (L169V)	Indel (missense variant)	not provided	GUncertain significance
Select item 1256735	NM_000522.5(HOXA13):c.504G>A (p.Ala168=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2307721	NM_000522.5(HOXA13):c.500C>G (p.Ala167Gly)	HOXA13, LOC107126288 (A167G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1306139	NM_000522.5(HOXA13):c.499G>T (p.Ala167Ser)	HOXA13, LOC107126288 (A167S)	Single nucleotide variant (missense variant)	Guttmacher syndrome +2 more	GUncertain significance
Select item 1988201	NM_000522.5(HOXA13):c.496C>T (p.Pro166Ser)	HOXA13, LOC107126288 (P166S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1268863	NM_000522.5(HOXA13):c.496C>A (p.Pro166Thr)	HOXA13, LOC107126288 (P166T)	Single nucleotide variant (missense variant)	Guttmacher syndrome +2 more	GBenign
Select item 1309583	NM_000522.5(HOXA13):c.481C>T (p.Gln161Ter)	HOXA13, LOC107126288 (Q161*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 720370	NM_000522.5(HOXA13):c.480G>A (p.Ala160=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2710444	NM_000522.5(HOXA13):c.477G>C (p.Ala159=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2539166	NM_000522.5(HOXA13):c.476C>T (p.Ala159Val)	HOXA13, LOC107126288 (A159V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2085888	NM_000522.5(HOXA13):c.470C>T (p.Ser157Leu)	HOXA13, LOC107126288 (S157L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3054028	NM_000522.5(HOXA13):c.461G>A (p.Ser154Asn)	HOXA13, LOC107126288 (S154N)	Single nucleotide variant (missense variant)	HOXA13-related condition	GUncertain significance
Select item 1542751	NM_000522.5(HOXA13):c.456A>G (p.Gln152=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1946001	NM_000522.5(HOXA13):c.448G>A (p.Ala150Thr)	HOXA13, LOC107126288 (A150T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2394515	NM_000522.5(HOXA13):c.431C>G (p.Pro144Arg)	LOC107126288, HOXA13 (P144R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1437472	NM_000522.5(HOXA13):c.431C>T (p.Pro144Leu)	HOXA13, LOC107126288 (P144L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2394514	NM_000522.5(HOXA13):c.424G>C (p.Ala142Pro)	HOXA13, LOC107126288 (A142P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1973247	NM_000522.5(HOXA13):c.423G>A (p.Pro141=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 592017	NM_000522.5(HOXA13):c.421_422insAGGCGGGCC (p.Gly140_Pro141insGlnAlaGly)	HOXA13, LOC107126288	Insertion (inframe_insertion)	not provided	GBenign
Select item 2256570	NM_000522.5(HOXA13):c.421C>T (p.Pro141Ser)	HOXA13, LOC107126288 (P141S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1927936	NM_000522.5(HOXA13):c.418G>T (p.Gly140Cys)	HOXA13, LOC107126288 (G140C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 14896	NM_000522.5(HOXA13):c.355_406dup (p.Ser136fs)	HOXA13, LOC107126288 (S136fs)	Duplication (frameshift variant)	Hand-foot-genital syndrome	GPathogenic
Select item 14890	NM_000522.5(HOXA13):c.407C>A (p.Ser136Ter)	HOXA13, LOC107126288 (S136*)	Single nucleotide variant (nonsense)	Hand-foot-genital syndrome	GPathogenic
Select item 2983467	NM_000522.5(HOXA13):c.381CGC[9] (p.Ala133_Ser134insAlaAlaAla)	HOXA13, LOC107126288	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2129002	NM_000522.5(HOXA13):c.375_398dup (p.Ala133_Ser134insAlaAlaAlaAlaAlaAlaAlaAla)	HOXA13, LOC107126288	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2070288	NM_000522.5(HOXA13):c.381CGC[3] (p.Ala131_Ala133del)	HOXA13, LOC107126288	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1685262	NM_000522.5(HOXA13):c.381CGC[5] (p.Ala133del)	HOXA13, LOC107126288 (A133del)	Microsatellite (inframe_deletion)	HOXA13-related condition +1 more	GBenign/Likely benign
Select item 591788	NM_000522.5(HOXA13):c.357_395del (p.Ala121_Ala133del)	HOXA13, LOC107126288	Deletion (inframe_deletion)	HOXA13-related condition +1 more	GUncertain significance
Select item 14895	NM_000522.5(HOXA13):c.366_392dup (p.Ala133_Ser134insAlaAlaAlaAlaAlaAlaAlaAlaAla)	HOXA13, LOC107126288	Duplication (inframe_insertion)	Hand-foot-genital syndrome	GPathogenic
Select item 591912	NM_000522.5(HOXA13):c.357_392del (p.Ala122_Ala133del)	HOXA13, LOC107126288	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3036773	NM_000522.5(HOXA13):c.390C>A (p.Ala130=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	HOXA13-related condition	GLikely benign
Select item 3030848	NM_000522.5(HOXA13):c.390C>G (p.Ala130=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	HOXA13-related condition	GLikely benign
Select item 14891	NM_000522.5(HOXA13):c.366_389dup (p.Ala133_Ser134insAlaAlaAlaAlaAlaAlaAlaAla)	HOXA13, LOC107126288	Duplication (inframe_insertion)	Hand-foot-genital syndrome	GPathogenic
Select item 1439548	NM_000522.5(HOXA13):c.357_389del (p.Ala123_Ala133del)	LOC107126288, HOXA13	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1945982	NM_000522.5(HOXA13):c.366_386del (p.Ala127_Ala133del)	HOXA13, LOC107126288	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 770934	NM_000522.5(HOXA13):c.357_386del (p.Ala124_Ala133del)	HOXA13, LOC107126288	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 3036424	NM_000522.5(HOXA13):c.384C>G (p.Ala128=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	HOXA13-related condition	GLikely benign
Select item 1928569	NM_000522.5(HOXA13):c.357_383del (p.Ala125_Ala133del)	HOXA13, LOC107126288	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 1202627	NM_000522.5(HOXA13):c.360_377dup (p.Ala133_Ser134insAlaAlaAlaAlaAlaAla)	HOXA13, LOC107126288	Duplication (inframe_insertion)	Hand-foot-genital syndrome	GPathogenic/Likely pathogenic
Select item 2821787	NM_000522.5(HOXA13):c.375_377del (p.Ala133del)	HOXA13, LOC107126288 (A133del)	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 591815	NM_000522.5(HOXA13):c.351_377del (p.Ala125_Ala133del)	HOXA13, LOC107126288	Deletion (inframe_deletion)	Guttmacher syndrome +2 more	GConflicting classifications of pathogenicity
Select item 591433	NM_000522.5(HOXA13):c.360_377del (p.Ala128_Ala133del)	HOXA13, LOC107126288	Deletion (inframe_deletion)	Guttmacher syndrome +3 more	GLikely benign
Select item 3040337	NM_000522.5(HOXA13):c.375T>G (p.Ala125=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	HOXA13-related condition	GLikely benign
Select item 2920192	NM_000522.5(HOXA13):c.366_374del (p.Ala131_Ala133del)	HOXA13, LOC107126288	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 2906467	NM_000522.5(HOXA13):c.354_374del (p.Ala127_Ala133del)	HOXA13, LOC107126288	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 1484314	NM_000522.5(HOXA13):c.373G>A (p.Ala125Thr)	HOXA13, LOC107126288 (A125T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3037887	NM_000522.5(HOXA13):c.372C>A (p.Ala124=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	HOXA13-related condition	GLikely benign
Select item 2881632	NM_000522.5(HOXA13):c.372C>G (p.Ala124=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974302	NM_000522.5(HOXA13):c.366G>C (p.Ala122=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734967	NM_000522.5(HOXA13):c.366G>T (p.Ala122=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3036749	NM_000522.5(HOXA13):c.363C>G (p.Ala121=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	HOXA13-related condition	GLikely benign
Select item 3021433	NM_000522.5(HOXA13):c.363C>T (p.Ala121=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1945987	NM_000522.5(HOXA13):c.360T>A (p.Ala120=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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