ClinVar for MedGen (Select 1805033) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3255468	NM_058172.6(ANTXR2):c.[1073dup];[1074del]			Hyaline fibromatosis syndrome	GPathogenic
Select item 3065592	NM_058172.6(ANTXR2):c.390A>T (p.Gln130His)	ANTXR2 (Q130H +1 more)	Single nucleotide variant (missense variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 3065591	NM_058172.6(ANTXR2):c.396G>T (p.Gln132His)	ANTXR2 (Q132H +1 more)	Single nucleotide variant (missense variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 2585639	NM_058172.6(ANTXR2):c.1139del (p.Tyr380fs)	ANTXR2 (Y380fs +1 more)	Deletion (frameshift variant)	Hyaline fibromatosis syndrome	GPathogenic
Select item 2585304	NM_058172.6(ANTXR2):c.211del (p.Glu71fs)	ANTXR2 (E71fs)	Deletion (frameshift variant +1 more)	Hyaline fibromatosis syndrome	GLikely pathogenic
Select item 2581430	NM_058172.6(ANTXR2):c.1294C>T (p.Arg432Ter)	ANTXR2 (R355* +1 more)	Single nucleotide variant (nonsense)	Hyaline fibromatosis syndrome	GPathogenic
Select item 2445864	NM_058172.6(ANTXR2):c.1087-1G>A	ANTXR2	Single nucleotide variant (splice acceptor variant)	Hyaline fibromatosis syndrome	GLikely pathogenic
Select item 2434220	NM_058172.6(ANTXR2):c.297-1G>A	ANTXR2	Single nucleotide variant (splice acceptor variant)	Hyaline fibromatosis syndrome	GLikely pathogenic
Select item 2431563	NM_058172.6(ANTXR2):c.487-2A>G	ANTXR2	Single nucleotide variant (splice acceptor variant)	Hyaline fibromatosis syndrome	GLikely pathogenic
Select item 2431432	NM_058172.6(ANTXR2):c.1287_1288del (p.Arg429fs)	ANTXR2 (R352fs +1 more)	Deletion (frameshift variant)	Hyaline fibromatosis syndrome	GLikely pathogenic
Select item 1723454	NM_058172.6(ANTXR2):c.496_497del (p.Ser166fs)	ANTXR2 (S166fs +1 more)	Deletion (frameshift variant)	Hyaline fibromatosis syndrome	GLikely pathogenic
Select item 1332786	NM_058172.6(ANTXR2):c.1073del (p.Pro358fs)	ANTXR2 (P281fs +1 more)	Deletion (frameshift variant)	Hyaline fibromatosis syndrome	GPathogenic
Select item 1323915	NM_058172.6(ANTXR2):c.297-2del	ANTXR2	Deletion (splice acceptor variant)	Hyaline fibromatosis syndrome	GLikely pathogenic
Select item 1192400	NM_058172.6(ANTXR2):c.636+54T>A	ANTXR2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1192399	NM_058172.6(ANTXR2):c.1042-114G>A	ANTXR2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1034209	NM_058172.6(ANTXR2):c.1361C>T (p.Ala454Val)	ANTXR2 (A377V +1 more)	Single nucleotide variant (missense variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 982063	NM_058172.6(ANTXR2):c.720del (p.Ser240fs)	ANTXR2 (S163fs +1 more)	Deletion (frameshift variant)	Hyaline fibromatosis syndrome	GLikely pathogenic
Select item 982062	NM_058172.6(ANTXR2):c.1069del (p.Ala357fs)	ANTXR2 (A280fs +1 more)	Deletion (frameshift variant)	Hyaline fibromatosis syndrome	GPathogenic
Select item 974886	NM_058172.6(ANTXR2):c.652T>C (p.Cys218Arg)	ANTXR2 (C141R +1 more)	Single nucleotide variant (missense variant)	Hyaline fibromatosis syndrome	GPathogenic
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 907981	NM_058172.6(ANTXR2):c.*2550T>C	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 907979	NM_058172.6(ANTXR2):c.*2839G>T	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 907977	NM_058172.6(ANTXR2):c.*2899A>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 907975	NM_058172.6(ANTXR2):c.*3105A>G	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 907908	NM_058172.6(ANTXR2):c.*4504C>T	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
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 907906	NM_058172.6(ANTXR2):c.*4630A>T	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GLikely benign
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 907904	NM_058172.6(ANTXR2):c.*4703T>A	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 907902	NM_058172.6(ANTXR2):c.*4847C>T	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 907111	NM_058172.6(ANTXR2):c.-634C>T	ANTXR2	Single nucleotide variant (5 prime UTR variant +1 more)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 907057	NM_058172.6(ANTXR2):c.796+3A>C	ANTXR2	Single nucleotide variant (intron variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 907056	NM_058172.6(ANTXR2):c.945+7A>G	ANTXR2	Single nucleotide variant (intron variant)	Hyaline fibromatosis syndrome	GUncertain significance
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 906995	NM_058172.6(ANTXR2):c.*785T>C	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome +1 more	GBenign
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 906993	NM_058172.6(ANTXR2):c.*1085T>C	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 906991	NM_058172.6(ANTXR2):c.*1113C>T	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 906922	NM_058172.6(ANTXR2):c.*4917G>A	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 906920	NM_058172.6(ANTXR2):c.*5266A>C	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 906918	NM_058172.6(ANTXR2):c.*5358A>G	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
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 906916	NM_058172.6(ANTXR2):c.*5425G>A	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GLikely benign
Select item 906105	NM_058172.6(ANTXR2):c.-266G>A	ANTXR2	Single nucleotide variant (5 prime UTR variant +1 more)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 906042	NM_058172.6(ANTXR2):c.1070C>G (p.Ala357Gly)	ANTXR2 (A280G +1 more)	Single nucleotide variant (missense variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 906041	NM_058172.6(ANTXR2):c.1179+3T>C	ANTXR2	Single nucleotide variant (intron variant)	Hyaline fibromatosis syndrome	GLikely benign
Select item 906040	NM_058172.6(ANTXR2):c.1247T>C (p.Val416Ala)	ANTXR2 (V339A +1 more)	Single nucleotide variant (missense variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 906039	NM_058172.6(ANTXR2):c.1309C>T (p.His437Tyr)	ANTXR2 (H360Y +1 more)	Single nucleotide variant (missense variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 906038	NM_058172.6(ANTXR2):c.1349G>A (p.Gly450Asp)	ANTXR2 (G450D +1 more)	Single nucleotide variant (missense variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 906037	NM_058172.6(ANTXR2):c.1360G>A (p.Ala454Thr)	ANTXR2 (A377T +1 more)	Single nucleotide variant (missense variant)	Hyaline fibromatosis syndrome	GLikely benign
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 905974	NM_058172.6(ANTXR2):c.*1126T>A	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 905972	NM_058172.6(ANTXR2):c.*1136C>T	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 905970	NM_058172.6(ANTXR2):c.*1397G>A	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 905968	NM_058172.6(ANTXR2):c.*1501G>T	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 905908	NM_058172.6(ANTXR2):c.*3371C>A	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 905906	NM_058172.6(ANTXR2):c.*3473A>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 905904	NM_058172.6(ANTXR2):c.*3544A>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 905902	NM_058172.6(ANTXR2):c.*3602A>G	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 905596	NM_058172.6(ANTXR2):c.-261G>T	ANTXR2	Single nucleotide variant (5 prime UTR variant +1 more)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 905595	NM_058172.6(ANTXR2):c.-169T>C	ANTXR2	Single nucleotide variant (5 prime UTR variant +1 more)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 905534	NM_058172.6(ANTXR2):c.1432C>T (p.Arg478Trp)	ANTXR2 (R401W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 905533	NM_058172.6(ANTXR2):c.*28C>T	ANTXR2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 905532	NM_058172.6(ANTXR2):c.*130A>G	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 905531	NM_058172.6(ANTXR2):c.*242A>G	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GLikely benign
Select item 905530	NM_058172.6(ANTXR2):c.*245A>G	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 905529	NM_058172.6(ANTXR2):c.*263C>T	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
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 905459	NM_058172.6(ANTXR2):c.*1558C>T	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	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 905457	NM_058172.6(ANTXR2):c.*1663G>A	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome +1 more	GBenign
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 905455	NM_058172.6(ANTXR2):c.*1682T>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 905398	NM_058172.6(ANTXR2):c.*3606A>G	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
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 905396	NM_058172.6(ANTXR2):c.*3695T>C	ANTXR2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
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 905394	NM_058172.6(ANTXR2):c.*3843G>A	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GUncertain significance
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 905392	NM_058172.6(ANTXR2):c.*3902C>T	ANTXR2	Single nucleotide variant (3 prime UTR variant)	Hyaline fibromatosis syndrome	GLikely benign
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 905315	NM_058172.6(ANTXR2):c.*5524C>T	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

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