HOXD1[gene] - ClinVar

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Items: 50

	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 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 more	Copy number loss	See cases	GPathogenic
Select item 2514393	NM_024501.3(HOXD1):c.191C>T (p.Ser64Leu)	HOXD1 (S64L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287844	NM_024501.3(HOXD1):c.262G>A (p.Glu88Lys)	HOXD1 (E88K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106717	NM_024501.3(HOXD1):c.287C>A (p.Ala96Glu)	HOXD1 (A96E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 870821	NM_024501.3(HOXD1):c.308dup (p.Ala104fs)	HOXD1 (A104fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2494389	NM_024501.3(HOXD1):c.328G>T (p.Gly110Trp)	HOXD1 (G110W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284681	NM_024501.3(HOXD1):c.335G>A (p.Gly112Glu)	HOXD1 (G112E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556277	NM_024501.3(HOXD1):c.335G>T (p.Gly112Val)	HOXD1 (G112V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299935	NM_024501.3(HOXD1):c.347A>G (p.Asp116Gly)	HOXD1 (D116G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390498	NM_024501.3(HOXD1):c.351C>G (p.Phe117Leu)	HOXD1 (F117L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244764	NM_024501.3(HOXD1):c.382G>A (p.Gly128Ser)	HOXD1 (G128S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106718	NM_024501.3(HOXD1):c.442C>T (p.Leu148Phe)	HOXD1 (L148F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375427	NM_024501.3(HOXD1):c.452A>G (p.Gln151Arg)	HOXD1 (Q151R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241822	NM_024501.3(HOXD1):c.458A>C (p.Asp153Ala)	HOXD1 (D153A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536470	NM_024501.3(HOXD1):c.472G>C (p.Gly158Arg)	HOXD1 (G158R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106719	NM_024501.3(HOXD1):c.670G>T (p.Gly224Trp)	HOXD1 (G224W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378312	NM_024501.3(HOXD1):c.752A>G (p.Asn251Ser)	HOXD1 (N251S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106720	NM_024501.3(HOXD1):c.756G>C (p.Lys252Asn)	HOXD1 (K252N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339182	NM_024501.3(HOXD1):c.799C>T (p.His267Tyr)	HOXD1 (H267Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373145	NM_024501.3(HOXD1):c.802C>G (p.Leu268Val)	HOXD1 (L268V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106722	NM_024501.3(HOXD1):c.920C>T (p.Ser307Phe)	HOXD1 (S307F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271741	NM_024501.3(HOXD1):c.931C>A (p.Pro311Thr)	HOXD1 (P311T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272056	NM_024501.3(HOXD1):c.951C>A (p.Asn317Lys)	HOXD1 (N317K)	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 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 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 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 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 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic

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Items: 50