HOXD9[gene] - ClinVar

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Items: 59

	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 2260774	NM_014213.4(HOXD9):c.20G>A (p.Gly7Glu)	HOXD9 (G7E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775791	NM_014213.4(HOXD9):c.20G>C (p.Gly7Ala)	HOXD9 (G7A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3106758	NM_014213.4(HOXD9):c.107C>A (p.Ala36Glu)	HOXD9 (A36E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386049	NM_014213.4(HOXD9):c.167C>T (p.Pro56Leu)	HOXD9 (P56L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293464	NM_014213.4(HOXD9):c.184G>C (p.Glu62Gln)	HOXD9 (E62Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482187	NM_014213.4(HOXD9):c.196T>C (p.Cys66Arg)	HOXD9 (C66R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282301	NM_014213.4(HOXD9):c.299T>G (p.Val100Gly)	HOXD9 (V100G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039017	NM_014213.4(HOXD9):c.334C>A (p.Pro112Thr)	HOXD9 (P112T)	Single nucleotide variant (missense variant)	HOXD9-related disorder	GLikely benign
Select item 2234801	NM_014213.4(HOXD9):c.353C>T (p.Ser118Phe)	HOXD9 (S118F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106759	NM_014213.4(HOXD9):c.418G>A (p.Gly140Ser)	HOXD9 (G140S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507845	NM_014213.4(HOXD9):c.458C>G (p.Ala153Gly)	HOXD9 (A153G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043845	NM_014213.4(HOXD9):c.463G>C (p.Gly155Arg)	HOXD9 (G155R)	Single nucleotide variant (missense variant)	HOXD9-related disorder	GLikely benign
Select item 3035685	NM_014213.4(HOXD9):c.463G>T (p.Gly155Trp)	HOXD9 (G155W)	Single nucleotide variant (missense variant)	HOXD9-related disorder	GLikely benign
Select item 2347289	NM_014213.4(HOXD9):c.466C>A (p.Arg156Ser)	HOXD9 (R156S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106760	NM_014213.4(HOXD9):c.544A>G (p.Thr182Ala)	HOXD9 (T182A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284707	NM_014213.4(HOXD9):c.590G>A (p.Arg197Gln)	HOXD9 (R197Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287785	NM_014213.4(HOXD9):c.650C>A (p.Ala217Glu)	HOXD9 (A217E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106761	NM_014213.4(HOXD9):c.667G>A (p.Gly223Arg)	HOXD9 (G223R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313512	NM_014213.4(HOXD9):c.673G>C (p.Gly225Arg)	HOXD9 (G225R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538326	NM_014213.4(HOXD9):c.719C>T (p.Ser240Leu)	HOXD9 (S240L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350354	NM_014213.4(HOXD9):c.741C>G (p.Asp247Glu)	HOXD9 (D247E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490333	NM_014213.4(HOXD9):c.805C>G (p.Gln269Glu)	HOXD9 (Q269E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241825	NM_014213.4(HOXD9):c.839T>G (p.Ile280Ser)	HOXD9 (I280S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106762	NM_014213.4(HOXD9):c.878C>G (p.Thr293Ser)	HOXD9 (T293S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789971	NM_014213.4(HOXD9):c.921C>T (p.Asn307=)	HOXD9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3106763	NM_014213.4(HOXD9):c.924G>T (p.Met308Ile)	HOXD9 (M308I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342582	NM_014213.4(HOXD9):c.1046C>T (p.Pro349Leu)	HOXD9 (P349L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 152973	GRCh38/hg38 2q31.1(chr2:176124494-176124918)x3	HOXD9	Copy number gain	See cases	GBenign
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 1808409	GRCh37/hg19 2q31.1(chr2:176988535-177046403)x1	HOXD3, HOXD4 +3 more	Copy number loss	not provided	GUncertain significance
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 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 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic

ClinVar

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Items: 59