ClinVar for MedGen (Select 777171) - ClinVar

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Items: 46

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24392121.	NM_000047.3(ARSL):c.910_918del (p.Leu304_Thr306del) GRCh37: ChrX:2864112-2864120 GRCh38: ChrX:2946071-2946079	ARSL		X-linked chondrodysplasia punctata 1	Uncertain significance (Aug 6, 2019)	criteria provided, single submitter
Select item 24392112.	NM_000047.3(ARSL):c.1265C>T (p.Ala422Val) GRCh37: ChrX:2856160 GRCh38: ChrX:2938119	ARSL	A368V, A422V, A431V, A447V	X-linked chondrodysplasia punctata 1	Uncertain significance (Dec 3, 2019)	criteria provided, single submitter
Select item 18057363.	NM_000047.3(ARSL):c.430G>A (p.Gly144Arg) GRCh37: ChrX:2871184 GRCh38: ChrX:2953143	ARSL	G144R, G153R, G169R, G90R	X-linked chondrodysplasia punctata 1	Likely pathogenic (Jun 11, 2020)	criteria provided, single submitter
Select item 17238734.	NM_000047.3(ARSL):c.916A>G (p.Thr306Ala) GRCh37: ChrX:2864114 GRCh38: ChrX:2946073	ARSL	T252A, T306A, T315A, T331A	X-linked chondrodysplasia punctata 1	Pathogenic (Jun 1, 2022)	criteria provided, single submitter
Select item 16988545.	NM_000047.3(ARSL):c.1219G>T (p.Glu407Ter) GRCh37: ChrX:2856206 GRCh38: ChrX:2938165	ARSL	E353, E407, E416, E432	X-linked chondrodysplasia punctata 1	Likely pathogenic (Jun 16, 2021)	criteria provided, single submitter
Select item 16834816.	NM_000047.3(ARSL):c.1289+1G>A GRCh37: ChrX:2856135 GRCh38: ChrX:2938094	ARSL		X-linked chondrodysplasia punctata 1	Likely pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 16832107.	NM_000047.3(ARSL):c.24-1G>A GRCh37: ChrX:2876477 GRCh38: ChrX:2958436	ARSL		not provided, X-linked chondrodysplasia punctata 1, Chondrodysplasia punctata, brachytelephalangic, autosomal	Conflicting interpretations of pathogenicity (Feb 23, 2023)	criteria provided, conflicting interpretations
Select item 11924788.	NM_000047.3(ARSL):c.24-26C>T GRCh37: ChrX:2876502 GRCh38: ChrX:2958461	ARSL		X-linked chondrodysplasia punctata 1, not provided	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 11752089.	NM_000047.3(ARSL):c.1127-141GA[10] GRCh37: ChrX:2856421-2856422 GRCh38: ChrX:2938380-2938381	ARSL		X-linked chondrodysplasia punctata 1, not provided	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 107328710.	NC_000023.10:g.(?_2838632)_(2878441_?)del GRCh37: ChrX:2838632-2878441	ARSD, ARSL		X-linked chondrodysplasia punctata 1	Pathogenic (Sep 24, 2020)	criteria provided, single submitter
Select item 106607411.	NM_000047.3(ARSL):c.217G>A (p.Gly73Ser) GRCh37: ChrX:2873547 GRCh38: ChrX:2955506	ARSL	G19S, G73S, G82S, G98S	Chondrodysplasia punctata, brachytelephalangic, autosomal, X-linked chondrodysplasia punctata 1	Likely pathogenic (Oct 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97630612.	NM_000047.3(ARSL):c.1022G>T (p.Gly341Val) GRCh37: ChrX:2861210 GRCh38: ChrX:2943169	ARSL	G287V, G341V, G350V, G366V	X-linked chondrodysplasia punctata 1	Uncertain significance (Jan 27, 2020)	criteria provided, single submitter
Select item 83816113.	NM_000047.3(ARSL):c.512A>G (p.Tyr171Cys) GRCh37: ChrX:2867687 GRCh38: ChrX:2949646	ARSL	Y117C, Y196C, Y171C, Y180C	Chondrodysplasia punctata, brachytelephalangic, autosomal, Connective tissue disorder, X-linked chondrodysplasia punctata 1	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 83220414.	NC_000023.11:g.(?_2934812)_(2958455_?)del GRCh37: ChrX:2852853-2876496	ARSL		Chondrodysplasia punctata, brachytelephalangic, autosomal, X-linked chondrodysplasia punctata 1	Pathogenic (Aug 4, 2021)	criteria provided, single submitter
Select item 81691815.	NM_000047.3(ARSL):c.898G>A (p.Val300Ile) GRCh37: ChrX:2864132 GRCh38: ChrX:2946091	ARSL	V300I, V325I, V246I, V309I	X-linked chondrodysplasia punctata 1	Uncertain significance (Jan 3, 2019)	criteria provided, single submitter
Select item 81190116.	NM_000047.3(ARSL):c.897C>T (p.His299=) GRCh37: ChrX:2864133 GRCh38: ChrX:2946092	ARSL		X-linked chondrodysplasia punctata 1, Chondrodysplasia punctata, brachytelephalangic, autosomal	Benign (Jan 1, 2020)	criteria provided, multiple submitters, no conflicts
Select item 81174817.	NM_000047.3(ARSL):c.684C>G (p.Ile228Met) GRCh37: ChrX:2867515 GRCh38: ChrX:2949474	ARSL	I174M, I228M, I237M, I253M	X-linked chondrodysplasia punctata 1	Uncertain significance (Sep 5, 2018)	criteria provided, single submitter
Select item 66751018.	NM_000047.3(ARSL):c.992-219C>G GRCh37: ChrX:2861459 GRCh38: ChrX:2943418	ARSL		not provided, X-linked chondrodysplasia punctata 1	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 65791719.	NC_000023.11:g.(?_2934812)_(2960420_?)del GRCh37: ChrX:2852853-2878461 GRCh38: ChrX:2934812-2960420	ARSL		X-linked chondrodysplasia punctata 1	Pathogenic (Aug 25, 2018)	criteria provided, single submitter
Select item 64330720.	NM_000047.3(ARSL):c.1239C>A (p.Asp413Glu) GRCh37: ChrX:2856186 GRCh38: ChrX:2938145	ARSL	D413E, D359E, D438E, D422E	Chondrodysplasia punctata, brachytelephalangic, autosomal, X-linked chondrodysplasia punctata 1	Uncertain significance (Aug 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 54786121.	NM_000047.3(ARSL):c.1694T>G (p.Ile565Ser) GRCh37: ChrX:2852949 GRCh38: ChrX:2934908	ARSL	I565S, I511S, I590S, I574S	Chondrodysplasia punctata, brachytelephalangic, autosomal, X-linked chondrodysplasia punctata 1	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 52272422.	NM_000047.3(ARSL):c.1189G>A (p.Gly397Arg) GRCh37: ChrX:2856236 GRCh38: ChrX:2938195	ARSL	G397R, G406R, G343R, G422R	Connective tissue disorder, Chondrodysplasia punctata, brachytelephalangic, autosomal, X-linked chondrodysplasia punctata 1	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 51841923.	NM_000047.3(ARSL):c.467G>A (p.Ser156Asn) GRCh37: ChrX:2867732 GRCh38: ChrX:2949691	ARSL	S156N, S181N, S102N, S165N	Chondrodysplasia punctata, brachytelephalangic, autosomal, not provided	Benign/Likely benign (Feb 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 51629324.	NM_000047.3(ARSL):c.495T>C (p.His165=) GRCh37: ChrX:2867704 GRCh38: ChrX:2949663	ARSL		Chondrodysplasia punctata, brachytelephalangic, autosomal, X-linked chondrodysplasia punctata 1, Connective tissue disorder, not specified	Benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 51300325.	NM_000047.3(ARSL):c.430+8C>T GRCh37: ChrX:2871176 GRCh38: ChrX:2953135	ARSL		X-linked chondrodysplasia punctata 1, Chondrodysplasia punctata, brachytelephalangic, autosomal, Connective tissue disorder, not specified	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 38336526.	NM_000047.3(ARSL):c.23G>C (p.Cys8Ser) GRCh37: ChrX:2878419 GRCh38: ChrX:2960378	ARSL	C8S, W8S, C17S	not provided, Chondrodysplasia punctata, brachytelephalangic, autosomal	Uncertain significance (Jun 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25474127.	NM_000047.3(ARSL):c.-14GA[3] GRCh37: ChrX:2878446-2878449 GRCh38: ChrX:2960405-2960408	ARSL	R7fs	not provided, X-linked chondrodysplasia punctata 1, not specified, Connective tissue disorder	Benign/Likely benign (Sep 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 23549128.	NM_000047.3(ARSL):c.775C>G (p.His259Asp) GRCh37: ChrX:2867424 GRCh38: ChrX:2949383	ARSL	H259D, H205D, H284D, H268D	Chondrodysplasia punctata, brachytelephalangic, autosomal, X-linked chondrodysplasia punctata 1, not provided	Benign/Likely benign (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15773729.	NM_000047.3(ARSL):c.78A>G (p.Ala26=) GRCh37: ChrX:2876422 GRCh38: ChrX:2958381	ARSL		Chondrodysplasia punctata, brachytelephalangic, autosomal, not specified, X-linked chondrodysplasia punctata 1	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15773530.	NM_000047.3(ARSL):c.549C>T (p.Arg183=) GRCh37: ChrX:2867650 GRCh38: ChrX:2949609	ARSL		Chondrodysplasia punctata, brachytelephalangic, autosomal, Connective tissue disorder, not specified, X-linked chondrodysplasia punctata 1	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15773431.	NM_000047.3(ARSL):c.548G>A (p.Arg183His) GRCh37: ChrX:2867651 GRCh38: ChrX:2949610	ARSL	R183H, R129H, R192H, R208H	Chondrodysplasia punctata, brachytelephalangic, autosomal, Connective tissue disorder, not provided, not specified, X-linked chondrodysplasia punctata 1	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15773232.	NM_000047.3(ARSL):c.337C>T (p.Leu113Phe) GRCh37: ChrX:2871277 GRCh38: ChrX:2953236	ARSL	L113F, L59F, L122F, L138F	not provided, X-linked chondrodysplasia punctata 1	Conflicting interpretations of pathogenicity (May 16, 2022)	criteria provided, conflicting interpretations
Select item 15773033.	NM_000047.3(ARSL):c.1692C>T (p.Asn564=) GRCh37: ChrX:2852951 GRCh38: ChrX:2934910	ARSL		Chondrodysplasia punctata, brachytelephalangic, autosomal, not provided, not specified, X-linked chondrodysplasia punctata 1	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15772934.	NM_000047.3(ARSL):c.157A>G (p.Ile53Val) GRCh37: ChrX:2876343 GRCh38: ChrX:2958302	ARSL	I53V, I62V, I78V	Chondrodysplasia punctata, brachytelephalangic, autosomal, Connective tissue disorder, not specified, X-linked chondrodysplasia punctata 1	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15772835.	NM_000047.3(ARSL):c.1270G>A (p.Gly424Ser) GRCh37: ChrX:2856155 GRCh38: ChrX:2938114	ARSL	G424S, G370S, G449S, G433S	Chondrodysplasia punctata, brachytelephalangic, autosomal, not provided, not specified, X-linked chondrodysplasia punctata 1	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2103336.	NM_000047.3(ARSL):c.410G>C (p.Gly137Ala) GRCh37: ChrX:2871204 GRCh38: ChrX:2953163	ARSL	G137A, G83A, G146A, G162A	Chondrodysplasia punctata, brachytelephalangic, autosomal, not provided, not specified, X-linked chondrodysplasia punctata 1	Conflicting interpretations of pathogenicity (Dec 20, 2022)	criteria provided, conflicting interpretations
Select item 2103237.	NM_000047.3(ARSL):c.1442C>T (p.Thr481Met) GRCh37: ChrX:2853201 GRCh38: ChrX:2935160	ARSL	T481M, T490M, T427M, T506M	X-linked chondrodysplasia punctata 1	not provided	no assertion provided
Select item 2103138.	NM_000047.3(ARSL):c.119T>G (p.Ile40Ser) GRCh37: ChrX:2876381 GRCh38: ChrX:2958340	ARSL	I40S, I49S, I65S	X-linked chondrodysplasia punctata 1	not provided	no assertion provided
Select item 1152939.	NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter) GRCh37: ChrX:2852900 GRCh38: ChrX:2934859	ARSL	W581, W590, W527, W606	Chondrodysplasia punctata, brachytelephalangic, autosomal, not provided, X-linked chondrodysplasia punctata 1, See cases	Conflicting interpretations of pathogenicity (Nov 30, 2023)	criteria provided, conflicting interpretations
Select item 1152840.	NM_000047.3(ARSL):c.1732C>T (p.Pro578Ser) GRCh37: ChrX:2852911 GRCh38: ChrX:2934870	ARSL	P578S, P524S, P603S, P587S	X-linked chondrodysplasia punctata 1	Pathogenic (Mar 1, 2003)	no assertion criteria provided
Select item 1152741.	NM_000047.3(ARSL):c.1475G>A (p.Cys492Tyr) GRCh37: ChrX:2853168 GRCh38: ChrX:2935127	ARSL	C492Y, C501Y, C517Y, C438Y	X-linked chondrodysplasia punctata 1	Pathogenic (Dec 12, 1997)	no assertion criteria provided
Select item 1152642.	NM_000047.3(ARSL):c.733G>C (p.Gly245Arg) GRCh37: ChrX:2867466 GRCh38: ChrX:2949425	ARSL	G245R, G191R, G254R, G270R	X-linked chondrodysplasia punctata 1	Pathogenic (Apr 7, 1995)	no assertion criteria provided
Select item 1152543.	NM_000047.3(ARSL):c.410G>T (p.Gly137Val) GRCh37: ChrX:2871204 GRCh38: ChrX:2953163	ARSL	G137V, G162V, G83V, G146V	X-linked chondrodysplasia punctata 1	Pathogenic (Apr 7, 1995)	no assertion criteria provided
Select item 1152444.	NM_000047.3(ARSL):c.332G>C (p.Arg111Pro) GRCh37: ChrX:2871282 GRCh38: ChrX:2953241	ARSL	R111P, R57P, R120P, R136P	X-linked chondrodysplasia punctata 1	Pathogenic (Apr 7, 1995)	no assertion criteria provided
Select item 1152345.	NM_000047.3(ARSL):c.349G>A (p.Gly117Arg) GRCh37: ChrX:2871265 GRCh38: ChrX:2953224	ARSL	G117R, G126R, G63R, G142R	not provided, X-linked chondrodysplasia punctata 1	Pathogenic/Likely pathogenic (May 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 1152246.	NM_000047.3(ARSL):c.36G>C (p.Arg12Ser) GRCh37: ChrX:2876464 GRCh38: ChrX:2958423	ARSL	R12S, R37S, R21S	X-linked chondrodysplasia punctata 1	Uncertain significance (Feb 8, 2013)	criteria provided, single submitter

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Items: 46