ClinVar for MedGen (Select 777171) - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2690544	NM_000047.3(ARSL):c.991+2T>C	ARSL	Single nucleotide variant (splice donor variant)	X-linked chondrodysplasia punctata 1	GLikely pathogenic
Select item 2439212	NM_000047.3(ARSL):c.910_918del (p.Leu304_Thr306del)	ARSL	Deletion (inframe_deletion)	X-linked chondrodysplasia punctata 1	GUncertain significance
Select item 2439211	NM_000047.3(ARSL):c.1265C>T (p.Ala422Val)	ARSL (A368V +3 more)	Single nucleotide variant (missense variant)	X-linked chondrodysplasia punctata 1	GUncertain significance
Select item 1805736	NM_000047.3(ARSL):c.430G>A (p.Gly144Arg)	ARSL (G144R +3 more)	Single nucleotide variant (missense variant)	X-linked chondrodysplasia punctata 1	GLikely pathogenic
Select item 1723873	NM_000047.3(ARSL):c.916A>G (p.Thr306Ala)	ARSL (T252A +3 more)	Single nucleotide variant (missense variant)	X-linked chondrodysplasia punctata 1	GPathogenic
Select item 1698854	NM_000047.3(ARSL):c.1219G>T (p.Glu407Ter)	ARSL (E353* +3 more)	Single nucleotide variant (nonsense)	X-linked chondrodysplasia punctata 1	GLikely pathogenic
Select item 1683481	NM_000047.3(ARSL):c.1289+1G>A	ARSL	Single nucleotide variant (splice donor variant)	X-linked chondrodysplasia punctata 1	GPathogenic/Likely pathogenic
Select item 1683210	NM_000047.3(ARSL):c.24-1G>A	ARSL	Single nucleotide variant (splice acceptor variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1683192	NM_000047.3(ARSL):c.949G>A (p.Gly317Arg)	ARSL (G263R +3 more)	Single nucleotide variant (missense variant)	Chondrodysplasia punctata, brachytelephalangic, autosomal +1 more	GConflicting classifications of pathogenicity
Select item 1192478	NM_000047.3(ARSL):c.24-26C>T	ARSL	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1175208	NM_000047.3(ARSL):c.1127-141GA[10]	ARSL	Microsatellite (intron variant)	not provided +1 more	GBenign
Select item 1073287	NC_000023.10:g.(?_2838632)_(2878441_?)del	ARSD, ARSL	Deletion	X-linked chondrodysplasia punctata 1	GPathogenic
Select item 1066074	NM_000047.3(ARSL):c.217G>A (p.Gly73Ser)	ARSL (G19S +3 more)	Single nucleotide variant (missense variant)	X-linked chondrodysplasia punctata 1 +1 more	GLikely pathogenic
Select item 993979	NM_000047.3(ARSL):c.23+687G>A	ARSL (V4M)	Single nucleotide variant (missense variant +1 more)	ARSL-related condition +2 more	GBenign
Select item 976306	NM_000047.3(ARSL):c.1022G>T (p.Gly341Val)	ARSL (G287V +3 more)	Single nucleotide variant (missense variant)	X-linked chondrodysplasia punctata 1	GUncertain significance
Select item 838161	NM_000047.3(ARSL):c.512A>G (p.Tyr171Cys)	ARSL (Y117C +3 more)	Single nucleotide variant (missense variant)	Chondrodysplasia punctata, brachytelephalangic, autosomal +2 more	GUncertain significance
Select item 832204	NC_000023.11:g.(?_2934812)_(2958455_?)del	ARSL	Deletion	Chondrodysplasia punctata, brachytelephalangic, autosomal +1 more	GPathogenic
Select item 816918	NM_000047.3(ARSL):c.898G>A (p.Val300Ile)	ARSL (V300I +3 more)	Single nucleotide variant (missense variant)	X-linked chondrodysplasia punctata 1	GUncertain significance
Select item 811901	NM_000047.3(ARSL):c.897C>T (p.His299=)	ARSL	Single nucleotide variant (synonymous variant)	Chondrodysplasia punctata, brachytelephalangic, autosomal +1 more	GBenign
Select item 811748	NM_000047.3(ARSL):c.684C>G (p.Ile228Met)	ARSL (I174M +3 more)	Single nucleotide variant (missense variant)	X-linked chondrodysplasia punctata 1	GUncertain significance
Select item 667510	NM_000047.3(ARSL):c.992-219C>G	ARSL	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 657917	NC_000023.11:g.(?_2934812)_(2960420_?)del	ARSL	Deletion	X-linked chondrodysplasia punctata 1	GPathogenic
Select item 643307	NM_000047.3(ARSL):c.1239C>A (p.Asp413Glu)	ARSL (D413E +3 more)	Single nucleotide variant (missense variant)	Chondrodysplasia punctata, brachytelephalangic, autosomal +1 more	GUncertain significance
Select item 547861	NM_000047.3(ARSL):c.1694T>G (p.Ile565Ser)	ARSL (I565S +3 more)	Single nucleotide variant (missense variant)	Chondrodysplasia punctata, brachytelephalangic, autosomal +1 more	GConflicting classifications of pathogenicity
Select item 522724	NM_000047.3(ARSL):c.1189G>A (p.Gly397Arg)	ARSL (G397R +3 more)	Single nucleotide variant (missense variant)	X-linked chondrodysplasia punctata 1 +2 more	GConflicting classifications of pathogenicity
Select item 518419	NM_000047.3(ARSL):c.467G>A (p.Ser156Asn)	ARSL (S156N +3 more)	Single nucleotide variant (missense variant)	Chondrodysplasia punctata, brachytelephalangic, autosomal +1 more	GBenign/Likely benign
Select item 516293	NM_000047.3(ARSL):c.495T>C (p.His165=)	ARSL	Single nucleotide variant (synonymous variant)	Chondrodysplasia punctata, brachytelephalangic, autosomal +3 more	GBenign
Select item 513003	NM_000047.3(ARSL):c.430+8C>T	ARSL	Single nucleotide variant (intron variant)	Chondrodysplasia punctata, brachytelephalangic, autosomal +3 more	GBenign
Select item 383365	NM_000047.3(ARSL):c.23G>C (p.Cys8Ser)	ARSL (C8S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 254741	NM_000047.3(ARSL):c.-14GA[3]	ARSL (R7fs)	Microsatellite (5 prime UTR variant +1 more)	X-linked chondrodysplasia punctata 1 +3 more	GBenign
Select item 235491	NM_000047.3(ARSL):c.775C>G (p.His259Asp)	ARSL (H259D +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 157737	NM_000047.3(ARSL):c.78A>G (p.Ala26=)	ARSL	Single nucleotide variant (synonymous variant +1 more)	Chondrodysplasia punctata, brachytelephalangic, autosomal +2 more	GBenign
Select item 157735	NM_000047.3(ARSL):c.549C>T (p.Arg183=)	ARSL	Single nucleotide variant (synonymous variant)	Chondrodysplasia punctata, brachytelephalangic, autosomal +3 more	GBenign
Select item 157734	NM_000047.3(ARSL):c.548G>A (p.Arg183His)	ARSL (R183H +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 157732	NM_000047.3(ARSL):c.337C>T (p.Leu113Phe)	ARSL (L113F +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 157730	NM_000047.3(ARSL):c.1692C>T (p.Asn564=)	ARSL	Single nucleotide variant (synonymous variant)	Chondrodysplasia punctata, brachytelephalangic, autosomal +3 more	GBenign
Select item 157729	NM_000047.3(ARSL):c.157A>G (p.Ile53Val)	ARSL (I53V +2 more)	Single nucleotide variant (missense variant +1 more)	Chondrodysplasia punctata, brachytelephalangic, autosomal +3 more	GBenign
Select item 157728	NM_000047.3(ARSL):c.1270G>A (p.Gly424Ser)	ARSL (G424S +3 more)	Single nucleotide variant (missense variant)	Chondrodysplasia punctata, brachytelephalangic, autosomal +3 more	GBenign
Select item 21033	NM_000047.3(ARSL):c.410G>C (p.Gly137Ala)	ARSL (G137A +3 more)	Single nucleotide variant (missense variant)	Chondrodysplasia punctata, brachytelephalangic, autosomal +4 more	GConflicting classifications of pathogenicity
Select item 21032	NM_000047.3(ARSL):c.1442C>T (p.Thr481Met)	ARSL (T481M +3 more)	Single nucleotide variant (missense variant)	X-linked chondrodysplasia punctata 1	Gnot provided
Select item 21031	NM_000047.3(ARSL):c.119T>G (p.Ile40Ser)	ARSL (I40S +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked chondrodysplasia punctata 1	Gnot provided
Select item 11529	NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter)	ARSL (W581* +3 more)	Single nucleotide variant (nonsense)	Chondrodysplasia punctata, brachytelephalangic, autosomal +3 more	GPathogenic/Likely pathogenic
Select item 11528	NM_000047.3(ARSL):c.1732C>T (p.Pro578Ser)	ARSL (P578S +3 more)	Single nucleotide variant (missense variant)	X-linked chondrodysplasia punctata 1	GPathogenic
Select item 11527	NM_000047.3(ARSL):c.1475G>A (p.Cys492Tyr)	ARSL (C492Y +3 more)	Single nucleotide variant (missense variant)	X-linked chondrodysplasia punctata 1	GPathogenic
Select item 11526	NM_000047.3(ARSL):c.733G>C (p.Gly245Arg)	ARSL (G245R +3 more)	Single nucleotide variant (missense variant)	X-linked chondrodysplasia punctata 1	GPathogenic
Select item 11525	NM_000047.3(ARSL):c.410G>T (p.Gly137Val)	ARSL (G137V +3 more)	Single nucleotide variant (missense variant)	X-linked chondrodysplasia punctata 1	GPathogenic
Select item 11524	NM_000047.3(ARSL):c.332G>C (p.Arg111Pro)	ARSL (R111P +3 more)	Single nucleotide variant (missense variant)	X-linked chondrodysplasia punctata 1	GPathogenic
Select item 11523	NM_000047.3(ARSL):c.349G>A (p.Gly117Arg)	ARSL (G117R +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 11522	NM_000047.3(ARSL):c.36G>C (p.Arg12Ser)	ARSL (R12S +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked chondrodysplasia punctata 1 +1 more	GUncertain significance

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Items: 49