ClinVar for MedGen (Select 75562) - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3069196	NM_000451.4(SHOX):c.675_676insA (p.Pro226fs)	SHOX (P226fs)	Insertion (frameshift variant +1 more)	Leri-Weill dyschondrosteosis	GLikely pathogenic
Select item 3062248	NM_000451.4(SHOX):c.419del (p.His140fs)	LOC107652445, SHOX (H140fs)	Deletion (frameshift variant)	Leri-Weill dyschondrosteosis +1 more	GLikely pathogenic
Select item 1807413	NM_000451.4(SHOX):c.454C>T (p.Gln152Ter)	LOC107652445, SHOX (Q152*)	Single nucleotide variant (nonsense)	Leri-Weill dyschondrosteosis +1 more	GPathogenic
Select item 1686193	NM_000451.4(SHOX):c.805del (p.Ser269fs)	SHOX (S269fs)	Deletion (frameshift variant +1 more)	Leri-Weill dyschondrosteosis	GPathogenic
Select item 1686192	NM_000451.4(SHOX):c.673CACCCGCACCTG[3] (p.225HPHL[3])	SHOX	Microsatellite (inframe_insertion +1 more)	Leri-Weill dyschondrosteosis	GUncertain significance
Select item 1686191	NM_000451.4(SHOX):c.673CACCCGCACCTG[1] (p.225HPHL[1])	SHOX	Microsatellite (inframe_deletion +1 more)	Leri-Weill dyschondrosteosis	GPathogenic
Select item 1686190	NM_000451.4(SHOX):c.670G>A (p.Ala224Thr)	SHOX (A224T)	Single nucleotide variant (missense variant +1 more)	Leri-Weill dyschondrosteosis	GPathogenic
Select item 1686189	NM_000451.4(SHOX):c.463G>C (p.Gly155Arg)	LOC107652445, SHOX (G155R)	Single nucleotide variant (missense variant)	Leri-Weill dyschondrosteosis	GPathogenic
Select item 1686187	NM_000451.4(SHOX):c.335A>C (p.Gln112Pro)	LOC107652445, SHOX (Q112P)	Single nucleotide variant (missense variant)	Leri-Weill dyschondrosteosis	GPathogenic
Select item 1686186	NM_000451.4(SHOX):c.334C>T (p.Gln112Ter)	LOC107652445, SHOX (Q112*)	Single nucleotide variant (nonsense)	Leri-Weill dyschondrosteosis	GPathogenic
Select item 1686185	NM_000451.4(SHOX):c.66AGGCGG[3] (p.Gly27_Gly28dup)	SHOX	Microsatellite (inframe_insertion)	Leri-Weill dyschondrosteosis	GUncertain significance
Select item 1683250	NM_006883.2(SHOX):c.-432-3C>A	SHOX	Single nucleotide variant (intron variant +1 more)	Leri-Weill dyschondrosteosis +2 more	GConflicting classifications of pathogenicity
Select item 1333546	NM_000451.4(SHOX):c.463G>T (p.Gly155Trp)	LOC107652445, SHOX (G155W)	Single nucleotide variant (missense variant)	Leri-Weill dyschondrosteosis	GUncertain significance
Select item 1333444	NM_000451.4(SHOX):c.250G>T (p.Glu84Ter)	SHOX (E84*)	Single nucleotide variant (nonsense)	Leri-Weill dyschondrosteosis	GLikely pathogenic
Select item 1256555	NM_000451.4(SHOX):c.518G>A (p.Arg173His)	SHOX (R173H)	Single nucleotide variant (missense variant)	Leri-Weill dyschondrosteosis +1 more	GPathogenic
Select item 933226	NM_000451.4(SHOX):c.-19G>A	SHOX	Single nucleotide variant (5 prime UTR variant)	SHOX-related short stature +1 more	GPathogenic/Likely pathogenic
Select item 805452	NM_000451.4(SHOX):c.728del (p.Pro243fs)	SHOX (P243fs)	Deletion (frameshift variant +1 more)	Leri-Weill dyschondrosteosis +1 more	GPathogenic
Select item 586575	NM_000451.4(SHOX):c.352_353del (p.Arg118fs)	LOC107652445, SHOX (R118fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 560137	NC_000023.11:g.820337_843143del	CNE7, LOC108251802	Deletion	Leri-Weill dyschondrosteosis	GUncertain significance
Select item 448375	NM_000451.4(SHOX):c.634-14G>T	SHOX	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 66087	NC_000024.9:g.730550_778092del	SHOX	Deletion	SHOX-related short stature +1 more	GPathogenic
Select item 36776	NM_000451.4(SHOX):c.63C>T (p.Gly21=)	SHOX	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 29995	NM_000451.4(SHOX):c.509C>A (p.Ala170Asp)	SHOX (A170D)	Single nucleotide variant (missense variant)	Leri-Weill dyschondrosteosis	GPathogenic
Select item 29994	NM_000451.4(SHOX):c.508G>C (p.Ala170Pro)	SHOX (A170P)	Single nucleotide variant (missense variant)	Langer mesomelic dysplasia syndrome +1 more	GPathogenic
Select item 9884	NC_000023.11:g.(651585_658784)_(659412_1759412)del	SHOX	Deletion	Leri-Weill dyschondrosteosis +1 more	GPathogenic
Select item 9883	NM_000451.4(SHOX):c.877T>C (p.Ter293Arg)	SHOX	Single nucleotide variant (stop lost +1 more)	Leri-Weill dyschondrosteosis	GUncertain significance
Select item 9882	NM_000451.4(SHOX):c.304G>T (p.Glu102Ter)	SHOX, LOC107652445 (E102*)	Single nucleotide variant (nonsense)	Leri-Weill dyschondrosteosis	GPathogenic
Select item 9880	NM_000451.4(SHOX):c.728dup (p.Pro244fs)	SHOX (P244fs)	Duplication (frameshift variant +1 more)	Leri-Weill dyschondrosteosis	GPathogenic
Select item 9879	NM_000451.4(SHOX):c.502C>T (p.Arg168Trp)	SHOX (R168W)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 9878	NM_000451.4(SHOX):c.517C>T (p.Arg173Cys)	SHOX (R173C)	Single nucleotide variant (missense variant)	Leri-Weill dyschondrosteosis +1 more	GPathogenic
Select item 9877	NM_000451.4(SHOX):c.181del (p.Glu61fs)	SHOX (E61fs)	Deletion (frameshift variant)	Leri-Weill dyschondrosteosis	GPathogenic
Select item 9876	NM_000451.4(SHOX):c.458G>T (p.Arg153Leu)	LOC107652445, SHOX (R153L)	Single nucleotide variant (missense variant)	Leri-Weill dyschondrosteosis	GPathogenic
Select item 9875	NM_000451.4(SHOX):c.394C>G (p.Leu132Val)	LOC107652445, SHOX (L132V)	Single nucleotide variant (missense variant)	Leri-Weill dyschondrosteosis	GPathogenic
Select item 9874	NG_009385.2:g.(?_5001)_(40068_?)del	SHOX	Deletion	Langer mesomelic dysplasia syndrome +1 more	GPathogenic
Select item 9873	NM_000451.4(SHOX):c.597C>G (p.Tyr199Ter)	SHOX (Y199*)	Single nucleotide variant (nonsense)	Leri-Weill dyschondrosteosis	GPathogenic
Select item 9872	NM_000451.4(SHOX):c.583C>T (p.Arg195Ter)	SHOX (R195*)	Single nucleotide variant (nonsense)	Leri-Weill dyschondrosteosis +1 more	GPathogenic

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Items: 36