ClinVar for Gene (Select 3236) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3284684	NM_002148.4(HOXD10):c.220T>C (p.Tyr74His)	HOXD10 (Y74H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284683	NM_002148.4(HOXD10):c.622C>G (p.Gln208Glu)	HOXD10 (Q208E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284682	NM_002148.4(HOXD10):c.184G>A (p.Val62Met)	HOXD10 (V62M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106724	NM_002148.4(HOXD10):c.661G>T (p.Ala221Ser)	HOXD10 (A221S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106723	NM_002148.4(HOXD10):c.634A>G (p.Lys212Glu)	HOXD10 (K212E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063795	NM_002148.4(HOXD10):c.125A>G (p.Asp42Gly)	HOXD10 (D42G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049448	NM_002148.4(HOXD10):c.606C>G (p.Asn202Lys)	HOXD10 (N202K)	Single nucleotide variant (missense variant)	HOXD10-related disorder	GBenign
Select item 3046997	NM_002148.4(HOXD10):c.363C>T (p.Asn121=)	HOXD10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3034401	NM_002148.4(HOXD10):c.-5C>G	HOXD10	Single nucleotide variant (5 prime UTR variant)	HOXD10-related disorder	GLikely benign
Select item 3025750	NM_002148.4(HOXD10):c.619G>T (p.Gly207Cys)	HOXD10 (G207C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2651564	NM_002148.4(HOXD10):c.*234AT[6]AAA[1]	HOXD10	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 2651563	NM_002148.4(HOXD10):c.207_208insGTATATATATATATATATAT	HOXD10	Insertion (3 prime UTR variant)	not provided	GBenign
Select item 2651562	NM_002148.4(HOXD10):c.205_211TA[3]TGTATATATATATATATATATATAT[1]	HOXD10	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 2651561	NM_002148.4(HOXD10):c.745+8T>G	HOXD10	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2651560	NM_002148.4(HOXD10):c.211G>A (p.Val71Met)	HOXD10 (V71M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2601348	NM_002148.4(HOXD10):c.95C>T (p.Ala32Val)	HOXD10 (A32V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2571102	NM_002148.4(HOXD10):c.*234AT[7]AAA[1]	HOXD10	Microsatellite (3 prime UTR variant)	not provided	GLikely benign
Select item 2550110	NM_002148.4(HOXD10):c.1009C>T (p.Leu337Phe)	HOXD10 (L337F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544552	NM_002148.4(HOXD10):c.178A>G (p.Arg60Gly)	HOXD10 (R60G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540476	NM_002148.4(HOXD10):c.871C>A (p.Leu291Ile)	HOXD10 (L291I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519135	NM_002148.4(HOXD10):c.35C>T (p.Thr12Ile)	HOXD10 (T12I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514032	NM_002148.4(HOXD10):c.509C>G (p.Pro170Arg)	HOXD10 (P170R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479430	NM_002148.4(HOXD10):c.223A>G (p.Ile75Val)	HOXD10 (I75V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2432527	NM_002148.4(HOXD10):c.341G>T (p.Cys114Phe)	HOXD10 (C114F)	Single nucleotide variant (missense variant)	Congenital vertical talus +1 more	GUncertain significance
Select item 2432526	NM_002148.4(HOXD10):c.753C>G (p.Ile251Met)	HOXD10 (I251M)	Single nucleotide variant (missense variant)	Congenital vertical talus +1 more	GUncertain significance
Select item 2411898	NM_002148.4(HOXD10):c.586C>A (p.Gln196Lys)	HOXD10 (Q196K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2322090	NM_002148.4(HOXD10):c.356A>C (p.Lys119Thr)	HOXD10 (K119T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273440	NM_002148.4(HOXD10):c.245C>T (p.Thr82Ile)	HOXD10 (T82I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226160	NM_002148.4(HOXD10):c.17G>T (p.Ser6Ile)	HOXD10 (S6I)	Single nucleotide variant (missense variant)	not specified	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 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 1694983	NM_002148.4(HOXD10):c.*234AT[8]AAA[1]	HOXD10	Microsatellite (3 prime UTR variant)	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 1339874	GRCh37/hg19 2q31.1(chr2:174673094-177275625)x3	ATF2, ATP5MC3 +22 more	Copy number gain	not provided	Gnot provided
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 981210	GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1	ABCB11, AGPS +97 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 930511	NM_002148.4(HOXD10):c.684G>C (p.Glu228Asp)	HOXD10 (E228D)	Single nucleotide variant (missense variant)	Congenital vertical talus	GUncertain significance
Select item 894788	NM_002148.4(HOXD10):c.*34G>A	HOXD10	Single nucleotide variant (3 prime UTR variant)	Congenital vertical talus	GUncertain significance
Select item 893880	NM_002148.4(HOXD10):c.87C>T (p.Ser29=)	HOXD10	Single nucleotide variant (synonymous variant)	Congenital vertical talus	GUncertain significance
Select item 893879	NM_002148.4(HOXD10):c.-6C>G	HOXD10	Single nucleotide variant (5 prime UTR variant)	Congenital vertical talus	GUncertain significance
Select item 893623	NM_002148.4(HOXD10):c.*643C>T	HOXD10	Single nucleotide variant (3 prime UTR variant)	Congenital vertical talus	GBenign
Select item 893622	NM_002148.4(HOXD10):c.*278G>A	HOXD10	Single nucleotide variant (3 prime UTR variant)	Congenital vertical talus	GUncertain significance
Select item 892820	NM_002148.4(HOXD10):c.*235A>T	HOXD10	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 892819	NM_002148.4(HOXD10):c.*208A>G	HOXD10	Single nucleotide variant (3 prime UTR variant)	Congenital vertical talus	GUncertain significance
Select item 892818	NM_002148.4(HOXD10):c.*83G>A	HOXD10	Single nucleotide variant (3 prime UTR variant)	Congenital vertical talus	GUncertain significance
Select item 892817	NM_002148.4(HOXD10):c.*76G>C	HOXD10	Single nucleotide variant (3 prime UTR variant)	not provided +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
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 811668	NM_002148.4(HOXD10):c.429C>T (p.Asn143=)	HOXD10	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 811018	NM_002148.4(HOXD10):c.745+19G>A	HOXD10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 808888	NM_002148.4(HOXD10):c.292G>A (p.Val98Ile)	HOXD10 (V98I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 775790	NM_002148.4(HOXD10):c.746-3T>C	HOXD10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 714132	NM_002148.4(HOXD10):c.768A>C (p.Pro256=)	HOXD10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688324	GRCh37/hg19 2q31.1-31.2(chr2:176310551-179092634)x1	AGPS, EVX2 +19 more	Copy number loss	not provided	GPathogenic
Select item 687517	GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	ABCB11, AGPS +125 more	Copy number loss	not provided	GPathogenic
Select item 685829	GRCh37/hg19 2q31.1-32.1(chr2:173538954-186401606)x1	AGPS, ATF2 +56 more	Copy number loss	not provided	GPathogenic
Select item 625773	GRCh37/hg19 2q31.1-31.2(chr2:176794846-178494259)	AGPS, EVX2 +17 more	Copy number loss	not provided	GPathogenic
Select item 562664	GRCh37/hg19 2q31.1-31.2(chr2:173741558-178416381)x1	AGPS, ATF2 +29 more	Copy number loss	not provided	GPathogenic
Select item 446338	GRCh37/hg19 2q31.1(chr2:175887486-176989647)x1	ATF2, ATP5MC3 +7 more	Copy number loss	See cases	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 439792	NM_002148.4(HOXD10):c.130G>A (p.Gly44Arg)	HOXD10 (G44R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 425236	NM_002148.4(HOXD10):c.284C>A (p.Thr95Lys)	HOXD10 (T95K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 332507	NM_002148.4(HOXD10):c.*585C>T	HOXD10	Single nucleotide variant (3 prime UTR variant)	Congenital vertical talus +1 more	GBenign
Select item 332506	NM_002148.4(HOXD10):c.*495A>T	HOXD10	Single nucleotide variant (3 prime UTR variant)	Congenital vertical talus +1 more	GBenign
Select item 332505	NM_002148.4(HOXD10):c.*468A>T	HOXD10	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 332504	NM_002148.4(HOXD10):c.*279G>A	HOXD10	Single nucleotide variant (3 prime UTR variant)	Congenital vertical talus	GBenign
Select item 332503	NM_002148.4(HOXD10):c.*270G>A	HOXD10	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 332502	NM_002148.4(HOXD10):c.*235delinsTATATATATATATATAT	HOXD10	Indel (3 prime UTR variant)	Congenital vertical talus	GUncertain significance
Select item 332501	NM_002148.4(HOXD10):c.*235delinsTATATATATAT	HOXD10	Indel (3 prime UTR variant)	Congenital vertical talus	GUncertain significance
Select item 332500	NM_002148.4(HOXD10):c.*233T>A	HOXD10	Single nucleotide variant (3 prime UTR variant)	Congenital vertical talus	GUncertain significance
Select item 332499	NM_002148.4(HOXD10):c.*205TA[18]	HOXD10	Microsatellite (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 332498	NM_002148.4(HOXD10):c.*205TA[13]	HOXD10	Microsatellite (3 prime UTR variant)	Congenital vertical talus	GUncertain significance
Select item 332497	NM_002148.4(HOXD10):c.*205TA[14]	HOXD10	Microsatellite (3 prime UTR variant)	Congenital vertical talus	GUncertain significance
Select item 332496	NM_002148.4(HOXD10):c.*205TA[23]	HOXD10	Microsatellite (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 332495	NM_002148.4(HOXD10):c.*205TA[21]	HOXD10	Microsatellite (3 prime UTR variant)	Congenital vertical talus +1 more	GUncertain significance
Select item 332494	NM_002148.4(HOXD10):c.*205TA[17]	HOXD10	Microsatellite (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 332493	NM_002148.4(HOXD10):c.*55G>T	HOXD10	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 332492	NM_002148.4(HOXD10):c.*47G>T	HOXD10	Single nucleotide variant (3 prime UTR variant)	Congenital vertical talus +1 more	GBenign
Select item 332491	NM_002148.4(HOXD10):c.*21C>T	HOXD10	Single nucleotide variant (3 prime UTR variant)	Congenital vertical talus	GUncertain significance
Select item 332490	NM_002148.4(HOXD10):c.*2T>C	HOXD10	Single nucleotide variant (3 prime UTR variant)	Congenital vertical talus +1 more	GBenign
Select item 332489	NM_002148.4(HOXD10):c.998T>C (p.Leu333Pro)	HOXD10 (L333P)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 332488	NM_002148.4(HOXD10):c.987G>C (p.Arg329=)	HOXD10	Single nucleotide variant (synonymous variant)	Congenital vertical talus +1 more	GBenign
Select item 332487	NM_002148.4(HOXD10):c.786T>A (p.Thr262=)	HOXD10	Single nucleotide variant (synonymous variant)	Congenital vertical talus	GUncertain significance
Select item 332486	NM_002148.4(HOXD10):c.623A>G (p.Gln208Arg)	HOXD10 (Q208R)	Single nucleotide variant (missense variant)	Congenital vertical talus	GLikely benign
Select item 332485	NM_002148.4(HOXD10):c.581A>G (p.Gln194Arg)	HOXD10 (Q194R)	Single nucleotide variant (missense variant)	Congenital vertical talus	GLikely benign
Select item 332484	NM_002148.4(HOXD10):c.561G>A (p.Lys187=)	HOXD10	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 332483	NM_002148.4(HOXD10):c.543C>A (p.Asn181Lys)	HOXD10 (N181K)	Single nucleotide variant (missense variant)	Congenital vertical talus	GUncertain significance
Select item 332482	NM_002148.4(HOXD10):c.465T>C (p.Ser155=)	HOXD10	Single nucleotide variant (synonymous variant)	Congenital vertical talus	GBenign
Select item 332481	NM_002148.4(HOXD10):c.420C>G (p.Pro140=)	HOXD10	Single nucleotide variant (synonymous variant)	Congenital vertical talus	GUncertain significance
Select item 332480	NM_002148.4(HOXD10):c.372T>G (p.Ile124Met)	HOXD10 (I124M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 332479	NM_002148.4(HOXD10):c.266G>A (p.Arg89Gln)	HOXD10 (R89Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 332478	NM_002148.4(HOXD10):c.116C>T (p.Pro39Leu)	HOXD10 (P39L)	Single nucleotide variant (missense variant)	Congenital vertical talus	GUncertain significance
Select item 332477	NM_002148.4(HOXD10):c.-10C>A	HOXD10	Single nucleotide variant (5 prime UTR variant)	Congenital vertical talus	GUncertain significance
Select item 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	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 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 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 148781	GRCh38/hg38 2q31.1(chr2:176075289-176156257)x1	EVX2, HOXD-AS2 +13 more	Copy number loss	See cases	GPathogenic

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