3239[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 more	Copy number loss	See cases	GPathogenic
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 150849	GRCh38/hg38 2q31.1-31.2(chr2:171513047-177854080)x1	AGPS, ATF2 +214 more	Copy number loss	See cases	GPathogenic
Select item 58766	GRCh38/hg38 2q31.1(chr2:172366752-176361187)x1	ATF2, ATP5MC3 +136 more	Copy number loss	See cases	GPathogenic
Select item 57130	GRCh38/hg38 2q31.1-31.2(chr2:172779876-177598000)x1	ATP5MC3, ATF2 +159 more	Copy number loss	See cases	GPathogenic
Select item 58767	GRCh38/hg38 2q31.1-31.2(chr2:173408061-177702487)x1	AGPS, ATF2 +150 more	Copy number loss	See cases	GPathogenic
Select item 155530	GRCh38/hg38 2q31.1-31.3(chr2:174236451-181188846)x1	AGPS, ATF2 +224 more	Copy number loss	See cases	GPathogenic
Select item 147705	GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1	AGPS, ATF2 +307 more	Copy number loss	See cases	GPathogenic
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 148781	GRCh38/hg38 2q31.1(chr2:176075289-176156257)x1	EVX2, HOXD-AS2 +13 more	Copy number loss	See cases	GPathogenic
Select item 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 more	Copy number loss	See cases	GPathogenic
Select item 1711510	NC_000002.12:g.176088561C>T	HOXD13	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 147467	GRCh38/hg38 2q31.1(chr2:176090995-176108288)x3	HOXD11, HOXD12 +1 more	Copy number gain	See cases	GUncertain significance
Select item 1240785	NC_000002.12:g.176092473G>C	HOXD13	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1232078	NC_000002.12:g.176092502T>A	HOXD13	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1205586	NM_000523.4(HOXD13):c.-100C>A	HOXD13	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1228320	NM_000523.4(HOXD13):c.-39G>C	HOXD13	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2987445	NM_000523.4(HOXD13):c.6C>A (p.Ser2Arg)	HOXD13 (S2R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 225651	NM_000523.4(HOXD13):c.32G>C (p.Gly11Ala)	HOXD13 (G11A)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 282381	NM_000523.4(HOXD13):c.41C>T (p.Ala14Val)	HOXD13 (A14V)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 2374557	NM_000523.4(HOXD13):c.56C>G (p.Ala19Gly)	HOXD13 (A19G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1302728	NM_000523.4(HOXD13):c.78CTC[2] (p.Ser30del)	HOXD13 (S30del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2900264	NM_000523.4(HOXD13):c.94GCG[6] (p.Ala36_Ser37insAla)	HOXD13	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 3056120	NM_000523.4(HOXD13):c.94GCG[4] (p.Ala36del)	HOXD13 (A36del)	Microsatellite (inframe deletion)	HOXD13-related condition	GLikely benign
Select item 3106738	NM_000523.4(HOXD13):c.117G>C (p.Gln39His)	HOXD13 (Q39H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2662810	NM_000523.4(HOXD13):c.125G>T (p.Gly42Val)	HOXD13 (G42V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 286626	NM_000523.4(HOXD13):c.135C>T (p.Ser45=)	HOXD13	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2076640	NM_000523.4(HOXD13):c.158A>T (p.His53Leu)	HOXD13 (H53L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 14877	NM_000523.4(HOXD13):c.164_184del (p.Gly55_Ala61del)	HOXD13	Deletion (inframe_deletion)	VACTERL association	GUncertain significance
Select item 1947461	NM_000523.4(HOXD13):c.164G>C (p.Gly55Ala)	HOXD13 (G55A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1451293	NM_000523.4(HOXD13):c.186_212dup (p.Ala63_Ala71dup)	HOXD13	Duplication (inframe_insertion)	HOXD13-related condition +1 more	GPathogenic
Select item 1403877	NM_000523.4(HOXD13):c.167G>A (p.Arg56Gln)	HOXD13 (R56Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1338819	NM_000523.4(HOXD13):c.168GGC[6] (p.Ala71dup)	HOXD13	Microsatellite (inframe_insertion)	Brachydactyly-syndactyly syndrome	GLikely benign
Select item 591237	NM_000523.4(HOXD13):c.168GGC[8] (p.Ala69_Ala71dup)	HOXD13	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 3056619	NM_000523.4(HOXD13):c.168GGC[4] (p.Ala71del)	HOXD13 (A71del)	Microsatellite (inframe deletion)	HOXD13-related condition	GLikely benign
Select item 2042530	NM_000523.4(HOXD13):c.186_212del (p.Ala63_Ala71del)	HOXD13	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1403115	NM_000523.4(HOXD13):c.168GGC[1] (p.Ala68_Ala71del)	HOXD13	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1323061	NM_000523.4(HOXD13):c.183_206dup (p.Ala64_Ala71dup)	HOXD13	Duplication (inframe_insertion)	Brachydactyly type E1 +4 more	GPathogenic
Select item 2651558	NM_000523.4(HOXD13):c.183_206del (p.Ala64_Ala71del)	HOXD13	Deletion (inframe_deletion)	HOXD13-related condition +1 more	GLikely benign
Select item 1392506	NM_000523.4(HOXD13):c.170C>T (p.Ala57Val)	HOXD13 (A57V)	Single nucleotide variant (missense variant)	Brachydactyly type E1 +5 more	GUncertain significance
Select item 1919465	NM_000523.4(HOXD13):c.183_203dup (p.Ala71_Ser72insAlaAlaAlaAlaAlaAlaAla)	HOXD13	Duplication (inframe_insertion)	HOXD13-Related Disorders +1 more	GPathogenic
Select item 14875	NM_000523.4(HOXD13):c.183_203del (p.Ala65_Ala71del)	HOXD13	Deletion (inframe_deletion)	Brachydactyly-syndactyly syndrome	GPathogenic
Select item 1800475	NM_000523.4(HOXD13):c.183_191dup (p.Ala71_Ser72insAlaAlaAla)	HOXD13	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 593623	NM_000523.4(HOXD13):c.183_191del (p.Ala69_Ala71del)	HOXD13	Deletion (inframe_deletion)	not provided +1 more	GBenign/Likely benign
Select item 3045069	NM_000523.4(HOXD13):c.189_209del (p.Ala65_Ala71del)	HOXD13	Deletion (inframe deletion)	HOXD13-related condition	GBenign
Select item 2146416	NM_000523.4(HOXD13):c.192_209del (p.Ala66_Ala71del)	HOXD13	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1555286	NM_000523.4(HOXD13):c.192_200del (p.Ala69_Ala71del)	HOXD13	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 2884654	NM_000523.4(HOXD13):c.195GGC[8] (p.Ala71_Ser72insAlaAlaAla)	HOXD13	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2309897	NM_000523.4(HOXD13):c.202G>T (p.Ala68Ser)	HOXD13 (A68S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1350734	NM_000523.4(HOXD13):c.202G>C (p.Ala68Pro)	HOXD13 (A68P)	Single nucleotide variant (missense variant)	Brachydactyly type D +5 more	GUncertain significance
Select item 1324539	NM_000523.4(HOXD13):c.203_204insA (p.Ala69fs)	HOXD13 (A69fs)	Insertion (frameshift variant)	not provided	GLikely pathogenic
Select item 916250	NM_000523.4(HOXD13):c.212_213insGGCGGCTGCGGCGGCGGCAGCGGCAGC (p.Ala63_Ala71dup)	HOXD13	Insertion (inframe_insertion)	not provided +1 more	GPathogenic
Select item 193107	NM_000523.4(HOXD13):c.204G>A (p.Ala68=)	HOXD13	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign
Select item 14873	NM_000523.4(HOXD13):c.209_210insGGCTGCGGCGGCGGCAGCGGC (p.Ala65_Ala71dup)	HOXD13	Insertion (inframe_insertion)	Synpolydactyly type 1 +1 more	GPathogenic
Select item 1034246	NM_000523.4(HOXD13):c.217G>A (p.Gly73Ser)	HOXD13 (G73S)	Single nucleotide variant (missense variant)	Brachydactyly-syndactyly syndrome +1 more	GUncertain significance
Select item 1312386	NM_000523.4(HOXD13):c.241G>A (p.Glu81Lys)	HOXD13 (E81K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1307099	NM_000523.4(HOXD13):c.260C>G (p.Ser87Trp)	HOXD13 (S87W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 702386	NM_000523.4(HOXD13):c.267G>A (p.Ser89=)	HOXD13	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3106739	NM_000523.4(HOXD13):c.290C>G (p.Ala97Gly)	HOXD13 (A97G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1919289	NM_000523.4(HOXD13):c.290C>T (p.Ala97Val)	HOXD13 (A97V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2550634	NM_000523.4(HOXD13):c.296C>T (p.Pro99Leu)	HOXD13 (P99L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 493303	NM_000523.4(HOXD13):c.296C>G (p.Pro99Arg)	HOXD13 (P99R)	Single nucleotide variant (missense variant)	HOXD13-related condition +6 more	GUncertain significance
Select item 3003156	NM_000523.4(HOXD13):c.297G>T (p.Pro99=)	HOXD13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1453451	NM_000523.4(HOXD13):c.314_315del (p.Lys105fs)	HOXD13 (K105fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 702336	NM_000523.4(HOXD13):c.314A>C (p.Lys105Thr)	HOXD13 (K105T)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 14867	NM_000523.4(HOXD13):c.323_336del (p.Pro108fs)	HOXD13 (P108fs)	Deletion (frameshift variant)	Synpolydactyly type 1	GPathogenic
Select item 2493499	NM_000523.4(HOXD13):c.355C>T (p.Pro119Ser)	HOXD13 (P119S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106740	NM_000523.4(HOXD13):c.359C>A (p.Pro120Gln)	HOXD13 (P120Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3017657	NM_000523.4(HOXD13):c.371C>A (p.Ala124Glu)	HOXD13 (A124E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2708388	NM_000523.4(HOXD13):c.389A>G (p.His130Arg)	HOXD13 (H130R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 497867	NM_000523.4(HOXD13):c.393C>T (p.Phe131=)	HOXD13	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2914659	NM_000523.4(HOXD13):c.449C>T (p.Ala150Val)	HOXD13 (A150V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2474193	NM_000523.4(HOXD13):c.466C>T (p.His156Tyr)	HOXD13 (H156Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2044318	NM_000523.4(HOXD13):c.474G>T (p.Ser158=)	HOXD13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 218457	NM_000523.4(HOXD13):c.500A>G (p.Tyr167Cys)	HOXD13 (Y167C)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2353087	NM_000523.4(HOXD13):c.507C>A (p.Asp169Glu)	HOXD13 (D169E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 500122	NM_000523.4(HOXD13):c.513A>G (p.Ser171=)	HOXD13	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2663675	NM_000523.4(HOXD13):c.536C>T (p.Pro179Leu)	HOXD13 (P179L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1452333	NM_000523.4(HOXD13):c.542_552del (p.Asn181fs)	HOXD13 (N181fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 391071	NM_000523.4(HOXD13):c.541A>G (p.Asn181Asp)	HOXD13 (N181D)	Single nucleotide variant (missense variant)	HOXD13-related condition +2 more	GLikely benign
Select item 591289	NM_000523.4(HOXD13):c.560C>G (p.Ala187Gly)	HOXD13 (A187G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591632	NM_000523.4(HOXD13):c.575_577del (p.Phe192del)	HOXD13 (F192del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2795109	NM_000523.4(HOXD13):c.607G>A (p.Val203Met)	HOXD13 (V203M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308789	NM_000523.4(HOXD13):c.613G>A (p.Gly205Ser)	HOXD13 (G205S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1174610	NM_000523.4(HOXD13):c.617A>G (p.Tyr206Cys)	HOXD13 (Y206C)	Single nucleotide variant (missense variant)	HOXD13-related condition	GLikely benign
Select item 1695392	NM_000523.4(HOXD13):c.623A>T (p.Asp208Val)	HOXD13 (D208V)	Single nucleotide variant (missense variant)	Synpolydactyly type 1	GUncertain significance
Select item 591240	NM_000523.4(HOXD13):c.674C>G (p.Ser225Cys)	HOXD13 (S225C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502140	NM_000523.4(HOXD13):c.684dup (p.Tyr229fs)	HOXD13 (Y229fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 225654	NM_000523.4(HOXD13):c.683G>C (p.Gly228Ala)	HOXD13 (G228A)	Single nucleotide variant (missense variant)	Synpolydactyly type 1	GPathogenic
Select item 14876	NM_000523.4(HOXD13):c.683G>T (p.Gly228Val)	HOXD13 (G228V)	Single nucleotide variant (missense variant)	Synpolydactyly type 1	GPathogenic
Select item 3019059	NM_000523.4(HOXD13):c.686A>G (p.Tyr229Cys)	HOXD13 (Y229C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1332838	NM_000523.4(HOXD13):c.708del (p.Asn236fs)	HOXD13 (N236fs)	Deletion (frameshift variant)	Synpolydactyly type 1	GPathogenic
Select item 930707	NM_000523.4(HOXD13):c.709G>C (p.Gly237Arg)	HOXD13 (G237R)	Single nucleotide variant (missense variant)	Synpolydactyly type 1	GUncertain significance
Select item 689765	NM_000523.4(HOXD13):c.744_747del (p.Gln248fs)	HOXD13 (Q248fs)	Deletion (frameshift variant)	Brachydactyly type E1 +3 more	GPathogenic
Select item 225650	NM_000523.4(HOXD13):c.742C>T (p.Gln248Ter)	HOXD13 (Q248*)	Single nucleotide variant (nonsense)	Synpolydactyly type 1	GPathogenic
Select item 3106741	NM_000523.4(HOXD13):c.744G>C (p.Gln248His)	HOXD13 (Q248H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2818313	NM_000523.4(HOXD13):c.781G>A (p.Gly261Arg)	HOXD13 (G261R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 225653	NM_000523.4(HOXD13):c.781+1G>A	HOXD13	Single nucleotide variant (splice donor variant)	Synpolydactyly type 1	GPathogenic
Select item 1254641	NM_000523.4(HOXD13):c.781+51G>T	HOXD13	Single nucleotide variant (intron variant)	not provided	GLikely benign

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