ClinVar for Gene (Select 3239) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 160

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3365073	NM_000523.4(HOXD13):c.18C>G (p.Ser6Arg)	HOXD13 (S6R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358371	NM_000523.4(HOXD13):c.979C>T (p.Arg327Ter)	HOXD13 (R327*)	Single nucleotide variant (nonsense)	HOXD13-related disorder	GLikely pathogenic
Select item 3346691	NM_000523.4(HOXD13):c.204delinsAGCGGCGGCGGCA (p.Ala71_Ser72insAlaAlaAlaAla)	HOXD13	Indel (inframe_insertion)	HOXD13-related disorder	GUncertain significance
Select item 3346356	NM_000523.4(HOXD13):c.858del (p.Gln287fs)	HOXD13 (Q287fs)	Deletion (frameshift variant)	HOXD13-related disorder	GPathogenic
Select item 3345953	NM_000523.4(HOXD13):c.584G>A (p.Gly195Asp)	HOXD13 (G195D)	Single nucleotide variant (missense variant)	HOXD13-related disorder	GUncertain significance
Select item 3284694	NM_000523.4(HOXD13):c.160T>A (p.Ser54Thr)	HOXD13 (S54T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3256389	NM_000523.4(HOXD13):c.212_213insTGCCGCCGCCGCAGCCGCCGCTGCCGC (p.Ala71_Ser72insAlaAlaAlaAlaAlaAlaAlaAlaAla)	HOXD13	Insertion (inframe_insertion)	not provided	GPathogenic
Select item 3252671	NM_000523.4(HOXD13):c.206_207insAGCGGCGGCTGCGGCGGCGGCAGC (p.Ala71_Ser72insAlaAlaAlaAlaAlaAlaAlaAla)	HOXD13	Insertion (inframe_insertion)	not provided	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 3106740	NM_000523.4(HOXD13):c.359C>A (p.Pro120Gln)	HOXD13 (P120Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3106738	NM_000523.4(HOXD13):c.117G>C (p.Gln39His)	HOXD13 (Q39H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3056619	NM_000523.4(HOXD13):c.168GGC[4] (p.Ala71del)	HOXD13 (A71del)	Microsatellite	HOXD13-related disorder	GLikely benign
Select item 3056120	NM_000523.4(HOXD13):c.94GCG[4] (p.Ala36del)	HOXD13 (A36del)	Microsatellite	HOXD13-related disorder	GLikely benign
Select item 3045069	NM_000523.4(HOXD13):c.189_209del (p.Ala65_Ala71del)	HOXD13	Deletion	HOXD13-related disorder	GBenign
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 3017657	NM_000523.4(HOXD13):c.371C>A (p.Ala124Glu)	HOXD13 (A124E)	Single nucleotide variant (missense variant)	not provided	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 2987445	NM_000523.4(HOXD13):c.6C>A (p.Ser2Arg)	HOXD13 (S2R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2900264	NM_000523.4(HOXD13):c.94GCG[6] (p.Ala36_Ser37insAla)	HOXD13	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2884654	NM_000523.4(HOXD13):c.195GGC[8] (p.Ala71_Ser72insAlaAlaAla)	HOXD13	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2862225	NM_000523.4(HOXD13):c.805G>A (p.Asp269Asn)	HOXD13 (D269N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2848243	NM_000523.4(HOXD13):c.1005C>T (p.Val335=)	HOXD13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2804210	NM_000523.4(HOXD13):c.884A>G (p.Tyr295Cys)	HOXD13 (Y295C)	Single nucleotide variant (missense variant)	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 2708388	NM_000523.4(HOXD13):c.389A>G (p.His130Arg)	HOXD13 (H130R)	Single nucleotide variant (missense 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 2662810	NM_000523.4(HOXD13):c.125G>T (p.Gly42Val)	HOXD13 (G42V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2651558	NM_000523.4(HOXD13):c.183_206del (p.Ala64_Ala71del)	HOXD13	Deletion (inframe_deletion)	not provided	GLikely benign
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 2502140	NM_000523.4(HOXD13):c.684dup (p.Tyr229fs)	HOXD13 (Y229fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2499278	NM_000523.4(HOXD13):c.938C>G (p.Thr313Arg)	HOXD13 (T313R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 2474193	NM_000523.4(HOXD13):c.466C>T (p.His156Tyr)	HOXD13 (H156Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2432529	NM_000523.4(HOXD13):c.922C>T (p.Arg308Cys)	HOXD13 (R308C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2423203	NC_000002.11:g.(?_176957619)_(176973870_?)del	HOXD11, HOXD12 +1 more	Deletion	not provided	GPathogenic
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 2353087	NM_000523.4(HOXD13):c.507C>A (p.Asp169Glu)	HOXD13 (D169E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2146416	NM_000523.4(HOXD13):c.192_209del (p.Ala66_Ala71del)	HOXD13	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2093906	NM_000523.4(HOXD13):c.1014C>T (p.Leu338=)	HOXD13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2044318	NM_000523.4(HOXD13):c.474G>T (p.Ser158=)	HOXD13	Single nucleotide variant (synonymous variant)	not provided	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 1947461	NM_000523.4(HOXD13):c.164G>C (p.Gly55Ala)	HOXD13 (G55A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1919465	NM_000523.4(HOXD13):c.183_203dup (p.Ala71_Ser72insAlaAlaAlaAlaAlaAlaAla)	HOXD13	Duplication (inframe_insertion)	not provided +1 more	GPathogenic
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 1808725	GRCh37/hg19 2q31.1-31.3(chr2:175143352-180999636)x1	AGPS, ATF2 +38 more	Copy number loss	not provided	GPathogenic
Select item 1800475	NM_000523.4(HOXD13):c.183_191dup (p.Ala71_Ser72insAlaAlaAla)	HOXD13	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1711510	NC_000002.12:g.176088561C>T	HOXD13	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1695396	Single allele	AGPS, ATF2 +47 more	Deletion	Split hand-foot malformation 5	GPathogenic
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 1674896	NM_000523.4(HOXD13):c.807C>T (p.Asp269=)	HOXD13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1661208	NM_000523.4(HOXD13):c.813C>T (p.Cys271=)	HOXD13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1555286	NM_000523.4(HOXD13):c.192_200del (p.Ala69_Ala71del)	HOXD13	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1453451	NM_000523.4(HOXD13):c.314_315del (p.Lys105fs)	HOXD13 (K105fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1452333	NM_000523.4(HOXD13):c.542_552del (p.Asn181fs)	HOXD13 (N181fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1451293	NM_000523.4(HOXD13):c.186_212dup (p.Ala63_Ala71dup)	HOXD13	Duplication (inframe_insertion)	HOXD13-related disorder +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 1403115	NM_000523.4(HOXD13):c.168GGC[1] (p.Ala68_Ala71del)	HOXD13	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1392506	NM_000523.4(HOXD13):c.170C>T (p.Ala57Val)	HOXD13 (A57V)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1356625	NM_000523.4(HOXD13):c.923G>A (p.Arg308His)	HOXD13 (R308H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1350734	NM_000523.4(HOXD13):c.202G>C (p.Ala68Pro)	HOXD13 (A68P)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1339874	GRCh37/hg19 2q31.1(chr2:174673094-177275625)x3	ATF2, ATP5MC3 +22 more	Copy number gain	not provided	Gnot provided
Select item 1338819	NM_000523.4(HOXD13):c.168GGC[6] (p.Ala71dup)	HOXD13	Microsatellite (inframe_insertion)	Brachydactyly-syndactyly syndrome	GLikely benign
Select item 1332838	NM_000523.4(HOXD13):c.708del (p.Asn236fs)	HOXD13 (N236fs)	Deletion (frameshift variant)	Synpolydactyly type 1	GPathogenic
Select item 1324539	NM_000523.4(HOXD13):c.203_204insA (p.Ala69fs)	HOXD13 (A69fs)	Insertion (frameshift variant)	not provided	GLikely pathogenic
Select item 1323061	NM_000523.4(HOXD13):c.183_206dup (p.Ala64_Ala71dup)	HOXD13	Duplication (inframe_insertion)	Synpolydactyly type 1 +4 more	GPathogenic
Select item 1312400	NM_000523.4(HOXD13):c.952A>G (p.Arg318Gly)	HOXD13 (R318G)	Single nucleotide variant (missense variant)	not provided	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 1309525	NM_000523.4(HOXD13):c.859C>A (p.Gln287Lys)	HOXD13 (Q287K)	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 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 1302728	NM_000523.4(HOXD13):c.78CTC[2] (p.Ser30del)	HOXD13 (S30del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1287547	NM_000523.4(HOXD13):c.782-94CA[17]	HOXD13	Microsatellite (intron variant)	not provided	GBenign
Select item 1287487	NM_000523.4(HOXD13):c.782-94CA[18]	HOXD13	Microsatellite (intron variant)	not provided	GBenign
Select item 1279407	NM_000523.4(HOXD13):c.782-200A>G	HOXD13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272176	NM_000523.4(HOXD13):c.782-129G>A	HOXD13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260461	NM_000523.4(HOXD13):c.781+302A>C	HOXD13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258496	NM_000523.4(HOXD13):c.*311C>T	HOXD13	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1254641	NM_000523.4(HOXD13):c.781+51G>T	HOXD13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247885	NM_000523.4(HOXD13):c.782-94CA[19]	HOXD13	Microsatellite (intron variant)	not provided	GBenign
Select item 1245545	NM_000523.4(HOXD13):c.782-246C>T	HOXD13	Single nucleotide variant (intron variant)	not provided	GBenign
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 1228320	NM_000523.4(HOXD13):c.-39G>C	HOXD13	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1211787	NM_000523.4(HOXD13):c.782-94CA[15]	HOXD13	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1205586	NM_000523.4(HOXD13):c.-100C>A	HOXD13	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1174610	NM_000523.4(HOXD13):c.617A>G (p.Tyr206Cys)	HOXD13 (Y206C)	Single nucleotide variant (missense variant)	HOXD13-related disorder +1 more	GLikely benign
Select item 1047877	GRCh37/hg19 2q31.1-31.3(chr2:171999572-182774361)	PJVK, RBM45 +60 more	Copy number loss	3-4 finger osseus syndactyly +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 981210	GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1	ABCB11, AGPS +97 more	Copy number loss	2q24 microdeletion syndrome	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 916250	NM_000523.4(HOXD13):c.212_213insGGCGGCTGCGGCGGCGGCAGCGGCAGC (p.Ala63_Ala71dup)	HOXD13	Insertion (inframe_insertion)	not provided +1 more	GPathogenic
Select item 870605	NM_000523.4(HOXD13):c.937A>C (p.Thr313Pro)	HOXD13 (T313P)	Single nucleotide variant (missense variant)	Abnormal finger morphology +1 more	GUncertain significance
Select item 814347	GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1	AGPS, ANKAR +86 more	Copy number loss	not provided	GPathogenic

<< First< Prev

Page of 2