EVX2[gene] - ClinVar

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Items: 78

	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 3239637	NC_000002.12:g.176073523_176079120del	EVX2, LOC110120627	Deletion	Synpolydactyly type 1	GLikely pathogenic
Select item 148781	GRCh38/hg38 2q31.1(chr2:176075289-176156257)x1	EVX2, HOXD-AS2 +13 more	Copy number loss	See cases	GPathogenic
Select item 3034305	NM_001080458.2(EVX2):c.1410C>G (p.Asp470Glu)	EVX2 (D470E)	Single nucleotide variant (missense variant)	EVX2-related disorder	GLikely benign
Select item 2553291	NM_001080458.2(EVX2):c.1408G>A (p.Asp470Asn)	EVX2 (D470N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276722	NM_001080458.2(EVX2):c.1375A>G (p.Ser459Gly)	EVX2 (S459G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495046	NM_001080458.2(EVX2):c.1355C>G (p.Pro452Arg)	EVX2 (P452R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493170	NM_001080458.2(EVX2):c.1339G>A (p.Glu447Lys)	EVX2 (E447K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380631	NM_001080458.2(EVX2):c.1315T>C (p.Cys439Arg)	EVX2 (C439R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258231	NM_001080458.2(EVX2):c.1307A>G (p.Asp436Gly)	EVX2 (D436G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521418	NM_001080458.2(EVX2):c.1304C>T (p.Ser435Leu)	EVX2 (S435L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090923	NM_001080458.2(EVX2):c.1265G>A (p.Gly422Asp)	EVX2 (G422D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514855	NM_001080458.2(EVX2):c.1223C>T (p.Ala408Val)	EVX2 (A408V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276715	NM_001080458.2(EVX2):c.1208C>T (p.Ala403Val)	EVX2 (A403V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090922	NM_001080458.2(EVX2):c.1208C>A (p.Ala403Glu)	EVX2 (A403E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561883	NM_001080458.2(EVX2):c.1204G>A (p.Ala402Thr)	EVX2 (A402T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651556	NM_001080458.2(EVX2):c.1164G>C (p.Ser388=)	EVX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2353065	NM_001080458.2(EVX2):c.1157C>T (p.Pro386Leu)	EVX2 (P386L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090921	NM_001080458.2(EVX2):c.1141A>G (p.Ser381Gly)	EVX2 (S381G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598873	NM_001080458.2(EVX2):c.1136C>T (p.Pro379Leu)	EVX2 (P379L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276714	NM_001080458.2(EVX2):c.1114T>C (p.Ser372Pro)	EVX2 (S372P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593213	NM_001080458.2(EVX2):c.1109C>G (p.Ala370Gly)	EVX2 (A370G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035956	NM_001080458.2(EVX2):c.1092A>C (p.Ala364=)	EVX2	Single nucleotide variant (synonymous variant)	EVX2-related disorder	GLikely benign
Select item 3049127	NM_001080458.2(EVX2):c.1083A>T (p.Ala361=)	EVX2	Single nucleotide variant (synonymous variant)	EVX2-related disorder	GLikely benign
Select item 3046064	NM_001080458.2(EVX2):c.1047_1082del (p.Gly352_Ala363del)	EVX2	Deletion (inframe_indel)	EVX2-related disorder	GLikely benign
Select item 3090920	NM_001080458.2(EVX2):c.1067C>G (p.Ala356Gly)	EVX2 (A356G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 729629	NM_001080458.2(EVX2):c.963C>G (p.Thr321=)	EVX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3090927	NM_001080458.2(EVX2):c.886G>A (p.Ala296Thr)	EVX2 (A296T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651557	NM_001080458.2(EVX2):c.827A>G (p.Tyr276Cys)	EVX2 (Y276C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2284409	NM_001080458.2(EVX2):c.578C>T (p.Thr193Met)	EVX2 (T193M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276718	NM_001080458.2(EVX2):c.525C>A (p.Ser175Arg)	EVX2 (S175R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232738	NM_001080458.2(EVX2):c.476G>A (p.Gly159Asp)	EVX2 (G159D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090926	NM_001080458.2(EVX2):c.438G>C (p.Glu146Asp)	EVX2 (E146D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276717	NM_001080458.2(EVX2):c.394G>C (p.Gly132Arg)	EVX2 (G132R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552865	NM_001080458.2(EVX2):c.358G>T (p.Val120Leu)	EVX2 (V120L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090924	NM_001080458.2(EVX2):c.340A>C (p.Met114Leu)	EVX2 (M114L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509036	NM_001080458.2(EVX2):c.275T>C (p.Ile92Thr)	EVX2 (I92T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295359	NM_001080458.2(EVX2):c.268T>C (p.Ser90Pro)	EVX2 (S90P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393332	NM_001080458.2(EVX2):c.233A>T (p.Asn78Ile)	EVX2 (N78I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375384	NM_001080458.2(EVX2):c.218T>G (p.Ile73Arg)	EVX2 (I73R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276721	NM_001080458.2(EVX2):c.178A>T (p.Ser60Cys)	EVX2 (S60C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531298	NM_001080458.2(EVX2):c.175C>T (p.His59Tyr)	EVX2 (H59Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276720	NM_001080458.2(EVX2):c.169C>T (p.Pro57Ser)	EVX2 (P57S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276716	NM_001080458.2(EVX2):c.152C>T (p.Pro51Leu)	EVX2 (P51L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482947	NM_001080458.2(EVX2):c.115G>C (p.Ala39Pro)	EVX2 (A39P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370271	NM_001080458.2(EVX2):c.100A>G (p.Asn34Asp)	EVX2 (N34D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354717	NM_001080458.2(EVX2):c.98G>A (p.Gly33Asp)	EVX2 (G33D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2269737	NM_001080458.2(EVX2):c.92C>T (p.Ser31Leu)	EVX2 (S31L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273846	NM_001080458.2(EVX2):c.41G>C (p.Arg14Thr)	EVX2 (R14T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532920	NM_001080458.2(EVX2):c.11G>T (p.Arg4Ile)	EVX2 (R4I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278934	NM_001080458.2(EVX2):c.7G>C (p.Glu3Gln)	EVX2 (E3Q)	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 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

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Items: 78