ClinVar for Gene (Select 3234) - ClinVar

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Links from Gene

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3106757	NM_019558.4(HOXD8):c.569G>A (p.Arg190Lys)	HOXD8 (R190K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106756	NM_019558.4(HOXD8):c.382G>A (p.Ala128Thr)	HOXD8 (A128T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106755	NM_019558.4(HOXD8):c.328C>T (p.Pro110Ser)	HOXD8 (P110S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106754	NM_019558.4(HOXD8):c.221C>T (p.Pro74Leu)	HOXD8 (P74L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106753	NM_019558.4(HOXD8):c.212A>C (p.His71Pro)	HOXD8 (H71P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106752	NM_019558.4(HOXD8):c.211C>T (p.His71Tyr)	HOXD8 (H71Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106751	NM_019558.4(HOXD8):c.118G>A (p.Val40Ile)	HOXD8, LOC100129455 (V40I)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3054272	NM_019558.4(HOXD8):c.204G>A (p.Ala68=)	HOXD8	Single nucleotide variant (synonymous variant +1 more)	HOXD8-related condition	GLikely benign
Select item 2569321	NM_019558.4(HOXD8):c.127C>T (p.Arg43Cys)	HOXD8, LOC100129455 (R43C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546708	NM_019558.4(HOXD8):c.347C>A (p.Pro116Gln)	HOXD8 (P116Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542253	NM_019558.4(HOXD8):c.364C>A (p.Pro122Thr)	HOXD8 (P122T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522234	NM_019558.4(HOXD8):c.325C>T (p.Pro109Ser)	HOXD8 (P109S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494615	NM_019558.4(HOXD8):c.703G>A (p.Ala235Thr)	HOXD8 (A51T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393736	NM_019558.4(HOXD8):c.130C>T (p.His44Tyr)	HOXD8, LOC100129455 (H44Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363613	NM_019558.4(HOXD8):c.670A>G (p.Arg224Gly)	HOXD8 (R224G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320582	NM_019558.4(HOXD8):c.130C>G (p.His44Asp)	HOXD8, LOC100129455 (H44D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305757	NM_019558.4(HOXD8):c.139G>T (p.Ala47Ser)	HOXD8, LOC100129455 (A47S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299094	NM_019558.4(HOXD8):c.31T>C (p.Ser11Pro)	HOXD8, LOC100129455 (S11P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291767	NM_019558.4(HOXD8):c.421A>C (p.Asn141His)	HOXD8 (N141H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285559	NM_019558.4(HOXD8):c.835G>A (p.Glu279Lys)	HOXD8 (E95K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284147	NM_019558.4(HOXD8):c.455A>C (p.Gln152Pro)	HOXD8 (Q152P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267198	NM_019558.4(HOXD8):c.169A>C (p.Ser57Arg)	HOXD8 (S57R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249915	NM_019558.4(HOXD8):c.88A>C (p.Thr30Pro)	HOXD8, LOC100129455 (T30P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244019	NM_019558.4(HOXD8):c.298A>C (p.Ser100Arg)	HOXD8 (S100R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240763	NM_019558.4(HOXD8):c.143C>A (p.Ala48Glu)	HOXD8, LOC100129455 (A48E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234509	NM_019558.4(HOXD8):c.224C>G (p.Ser75Cys)	HOXD8 (S75C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231769	NM_019558.4(HOXD8):c.583C>T (p.Pro195Ser)	HOXD8 (P195S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220729	NM_019558.4(HOXD8):c.213C>A (p.His71Gln)	HOXD8 (H71Q)	Single nucleotide variant (missense variant +1 more)	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)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +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
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
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 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 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 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	KLHL23, KLHL41 +488 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 58766	GRCh38/hg38 2q31.1(chr2:172366752-176361187)x1	ATF2, ATP5MC3 +136 more	Copy number loss	See cases	GPathogenic
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	ABI2, AGPS +697 more	Copy number loss	See cases	GPathogenic
Select item 57130	GRCh38/hg38 2q31.1-31.2(chr2:172779876-177598000)x1	GPR155, GPR155-DT +159 more	Copy number loss	See cases	GPathogenic

ClinVar

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Germline classification

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Molecular consequence

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Links from Gene

Items: 58