ANTXR2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 1684642	NC_000004.12:g.67833055_82716065del	BMP2K, LOC111832670 +330 more	Deletion	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 149262	GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3	ABRAXAS1, ADAMTS3 +331 more	Copy number gain	See cases	GPathogenic
Select item 57143	GRCh38/hg38 4q21.1-21.23(chr4:75453111-84094295)x1	LOC129992714, LOC129992715 +236 more	Copy number loss	See cases	GPathogenic
Select item 2579270	GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1	ABCG2, ABRAXAS1 +338 more	Copy number loss	Chromosome 4q21 deletion syndrome	GPathogenic
Select item 59455	GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1	ABCG2, ABRAXAS1 +251 more	Copy number loss	See cases	GPathogenic
Select item 146518	GRCh38/hg38 4q21.21-21.22(chr4:79742612-83153725)x1	ANTXR2, BMP3 +83 more	Copy number loss	See cases	GUncertain significance
Select item 147709	GRCh38/hg38 4q21.21-21.23(chr4:79786514-85832807)x1	BMP3, CDS1 +137 more	Copy number loss	See cases	GPathogenic
Select item 905310	NM_058172.6(ANTXR2):c.*5761A>G	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 905311	NM_058172.6(ANTXR2):c.*5602C>G	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome +1 more	GBenign
Select item 905312	NM_058172.6(ANTXR2):c.*5547T>C	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GBenign
Select item 905313	NM_058172.6(ANTXR2):c.*5527A>G	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 905314	NM_058172.6(ANTXR2):c.*5525G>A	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 905315	NM_058172.6(ANTXR2):c.*5524C>T	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 906916	NM_058172.6(ANTXR2):c.*5425G>A	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GLikely benign
Select item 906917	NM_058172.6(ANTXR2):c.*5413A>G	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 906918	NM_058172.6(ANTXR2):c.*5358A>G	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 906919	NM_058172.6(ANTXR2):c.*5310T>G	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 906920	NM_058172.6(ANTXR2):c.*5266A>C	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 906921	NM_058172.6(ANTXR2):c.*5223G>T	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GLikely benign
Select item 906922	NM_058172.6(ANTXR2):c.*4917G>A	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 906923	NM_058172.6(ANTXR2):c.*4856C>T	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome +1 more	GLikely benign
Select item 907902	NM_058172.6(ANTXR2):c.*4847C>T	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 907903	NM_058172.6(ANTXR2):c.*4712C>T	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 907904	NM_058172.6(ANTXR2):c.*4703T>A	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 907905	NM_058172.6(ANTXR2):c.*4668T>C	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 907906	NM_058172.6(ANTXR2):c.*4630A>T	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GLikely benign
Select item 907907	NM_058172.6(ANTXR2):c.*4576A>G	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 907908	NM_058172.6(ANTXR2):c.*4504C>T	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 907909	NM_058172.6(ANTXR2):c.*4462A>G	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 904597	NM_058172.6(ANTXR2):c.*4332G>A	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 904598	NM_058172.6(ANTXR2):c.*4272C>T	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome +1 more	GBenign
Select item 904599	NM_058172.6(ANTXR2):c.*4264T>A	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 904600	NM_058172.6(ANTXR2):c.*4223T>C	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 904601	NM_058172.6(ANTXR2):c.*4201A>G	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 904602	NM_058172.6(ANTXR2):c.*4194C>T	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 904603	NM_058172.6(ANTXR2):c.*4058A>T	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 904604	NM_058172.6(ANTXR2):c.*4056T>A	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome +1 more	GBenign
Select item 905391	NM_058172.6(ANTXR2):c.*3953G>A	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 905392	NM_058172.6(ANTXR2):c.*3902C>T	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GLikely benign
Select item 905393	NM_058172.6(ANTXR2):c.*3888T>G	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 905394	NM_058172.6(ANTXR2):c.*3843G>A	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 905395	NM_058172.6(ANTXR2):c.*3707G>A	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 905396	NM_058172.6(ANTXR2):c.*3695T>C	ANTXR2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 905397	NM_058172.6(ANTXR2):c.*3649T>A	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GLikely benign
Select item 905398	NM_058172.6(ANTXR2):c.*3606A>G	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 905902	NM_058172.6(ANTXR2):c.*3602A>G	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 905903	NM_058172.6(ANTXR2):c.*3597T>G	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 905904	NM_058172.6(ANTXR2):c.*3544A>G	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 905905	NM_058172.6(ANTXR2):c.*3533G>A	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 905906	NM_058172.6(ANTXR2):c.*3473A>G	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 905907	NM_058172.6(ANTXR2):c.*3468A>G	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 905908	NM_058172.6(ANTXR2):c.*3371C>A	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 905909	NM_058172.6(ANTXR2):c.*3212T>C	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 907975	NM_058172.6(ANTXR2):c.*3105A>G	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 907976	NM_058172.6(ANTXR2):c.*2959C>G	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 907977	NM_058172.6(ANTXR2):c.*2899A>G	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 907978	NM_058172.6(ANTXR2):c.*2888G>A	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 907979	NM_058172.6(ANTXR2):c.*2839G>T	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 907980	NM_058172.6(ANTXR2):c.*2666A>C	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 907981	NM_058172.6(ANTXR2):c.*2550T>C	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 907982	NM_058172.6(ANTXR2):c.*2446C>T	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 904665	NM_058172.6(ANTXR2):c.*2429G>A	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 904666	NM_058172.6(ANTXR2):c.*2306A>G	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 904667	NM_058172.6(ANTXR2):c.*2303A>C	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GLikely benign
Select item 904668	NM_058172.6(ANTXR2):c.*2256T>C	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 904669	NM_058172.6(ANTXR2):c.*2245G>A	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GLikely benign
Select item 904670	NM_058172.6(ANTXR2):c.*2226A>T	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 904671	NM_058172.6(ANTXR2):c.*2225A>G	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 904672	NM_058172.6(ANTXR2):c.*2187A>C	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 905454	NM_058172.6(ANTXR2):c.*1795G>A	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 905455	NM_058172.6(ANTXR2):c.*1682T>C	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 905456	NM_058172.6(ANTXR2):c.*1671T>G	ANTXR2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 905457	NM_058172.6(ANTXR2):c.*1663G>A	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome +1 more	GBenign
Select item 905458	NM_058172.6(ANTXR2):c.*1563A>G	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GLikely benign
Select item 905459	NM_058172.6(ANTXR2):c.*1558C>T	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GBenign
Select item 905460	NM_058172.6(ANTXR2):c.*1521A>G	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome +1 more	GBenign
Select item 905968	NM_058172.6(ANTXR2):c.*1501G>T	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 905969	NM_058172.6(ANTXR2):c.*1476G>A	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 905970	NM_058172.6(ANTXR2):c.*1397G>A	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 905971	NM_058172.6(ANTXR2):c.*1295T>C	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 905972	NM_058172.6(ANTXR2):c.*1136C>T	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 905973	NM_058172.6(ANTXR2):c.*1133G>A	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 905974	NM_058172.6(ANTXR2):c.*1126T>A	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 905975	NM_058172.6(ANTXR2):c.*1114G>A	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 906991	NM_058172.6(ANTXR2):c.*1113C>T	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 906992	NM_058172.6(ANTXR2):c.*1099C>T	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 906993	NM_058172.6(ANTXR2):c.*1085T>C	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 906994	NM_058172.6(ANTXR2):c.*947T>C	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GLikely benign
Select item 906995	NM_058172.6(ANTXR2):c.*785T>C	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome +1 more	GBenign
Select item 906996	NM_058172.6(ANTXR2):c.*784T>G	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome +1 more	GBenign
Select item 904738	NM_058172.6(ANTXR2):c.*752C>G	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 904739	NM_058172.6(ANTXR2):c.*728G>A	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 904740	NM_058172.6(ANTXR2):c.*703C>T	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 904741	NM_058172.6(ANTXR2):c.*702A>C	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 904742	NM_058172.6(ANTXR2):c.*677C>T	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GBenign
Select item 904743	NM_058172.6(ANTXR2):c.*559G>A	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 904744	NM_058172.6(ANTXR2):c.*380T>C	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 904745	NM_058172.6(ANTXR2):c.*336C>T	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome +1 more	GBenign

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