HOXD3[gene] - ClinVar

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Items: 62

	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 2598772	NM_014621.3(HOXD4):c.548G>A (p.Arg183His)	HOXD3, HOXD4 (R183H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554249	NM_014621.3(HOXD4):c.551G>A (p.Arg184Gln)	HOXD3, HOXD4 (R184Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328848	NM_014621.3(HOXD4):c.587G>T (p.Arg196Leu)	HOXD3, HOXD4 (R196L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206865	NM_014621.3(HOXD4):c.693C>G (p.Cys231Trp)	HOXD3, HOXD4 (C231W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372262	NM_014621.3(HOXD4):c.709C>A (p.Pro237Thr)	HOXD3, HOXD4 (P237T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218678	NM_006898.5(HOXD3):c.68A>G (p.Tyr23Cys)	HOXD3 (Y23C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294891	NM_006898.5(HOXD3):c.151C>A (p.Pro51Thr)	HOXD3 (P51T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715795	NM_006898.5(HOXD3):c.153A>C (p.Pro51=)	HOXD3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3106742	NM_006898.5(HOXD3):c.273G>A (p.Met91Ile)	HOXD3 (M91I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531100	NM_006898.5(HOXD3):c.275G>A (p.Arg92Gln)	HOXD3 (R92Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598260	NM_006898.5(HOXD3):c.301G>C (p.Gly101Arg)	HOXD3 (G101R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106743	NM_006898.5(HOXD3):c.310G>A (p.Gly104Ser)	HOXD3 (G104S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2371692	NM_006898.5(HOXD3):c.358C>G (p.Pro120Ala)	HOXD3 (P120A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106744	NM_006898.5(HOXD3):c.371C>T (p.Pro124Leu)	HOXD3 (P124L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370689	NM_006898.5(HOXD3):c.373A>C (p.Thr125Pro)	HOXD3 (T125P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465294	NM_006898.5(HOXD3):c.433G>A (p.Gly145Ser)	HOXD3 (G145S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282982	NM_006898.5(HOXD3):c.455C>G (p.Ser152Cys)	HOXD3 (S152C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243860	NM_006898.5(HOXD3):c.539C>A (p.Ala180Glu)	HOXD3 (A180E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553298	NM_006898.5(HOXD3):c.559A>C (p.Lys187Gln)	HOXD3 (K187Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532102	NM_006898.5(HOXD3):c.650G>C (p.Arg217Pro)	HOXD3 (R217P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609446	NM_006898.5(HOXD3):c.793C>G (p.Gln265Glu)	HOXD3 (Q265E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395614	NM_006898.5(HOXD3):c.838G>C (p.Val280Leu)	HOXD3 (V280L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255286	NM_006898.5(HOXD3):c.851G>A (p.Gly284Asp)	HOXD3 (G284D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268372	NM_006898.5(HOXD3):c.887C>A (p.Ala296Glu)	HOXD3 (A296E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531101	NM_006898.5(HOXD3):c.890C>A (p.Pro297His)	HOXD3 (P297H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106745	NM_006898.5(HOXD3):c.892T>C (p.Ser298Pro)	HOXD3 (S298P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472763	NM_006898.5(HOXD3):c.959G>A (p.Ser320Asn)	HOXD3 (S320N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372069	NM_006898.5(HOXD3):c.979A>G (p.Lys327Glu)	HOXD3 (K327E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465472	NM_006898.5(HOXD3):c.988G>A (p.Ala330Thr)	HOXD3 (A330T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297927	NM_006898.5(HOXD3):c.1010A>C (p.His337Pro)	HOXD3 (H337P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597720	NM_006898.5(HOXD3):c.1083C>G (p.Asn361Lys)	HOXD3 (N361K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229365	NM_006898.5(HOXD3):c.1175C>T (p.Ala392Val)	HOXD3 (A392V)	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 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)	CYBRD1, DCAF17 +60 more	Copy number loss	3-4 finger 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: 62