ClinVar for MedGen (Select 1648368) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065425	NM_014243.3(ADAMTS3):c.2878C>T (p.Pro960Ser)	ADAMTS3 (P960S)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 3	GUncertain significance
Select item 3064779	NM_014243.3(ADAMTS3):c.3104G>A (p.Arg1035Gln)	ADAMTS3 (R1035Q)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 3	GUncertain significance
Select item 1189006	NM_014243.3(ADAMTS3):c.413G>A (p.Arg138Lys)	ADAMTS3 (R138K)	Single nucleotide variant (missense variant)	ADAMTS3-related condition +1 more	GBenign
Select item 1189005	NM_014243.3(ADAMTS3):c.2179+21G>A	ADAMTS3	Single nucleotide variant (intron variant)	Hennekam lymphangiectasia-lymphedema syndrome 3	GBenign
Select item 1188859	NM_014243.3(ADAMTS3):c.69+31del	ADAMTS3	Deletion (intron variant)	Hennekam lymphangiectasia-lymphedema syndrome 3	GBenign
Select item 780467	NM_014243.3(ADAMTS3):c.661+7G>A	ADAMTS3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 627548	NM_014243.3(ADAMTS3):c.280C>T (p.Arg94Ter)	ADAMTS3 (R94*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 586988	NM_014243.3(ADAMTS3):c.872T>C (p.Ile291Thr)	ADAMTS3 (I291T)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 3	GPathogenic
Select item 586987	NM_014243.3(ADAMTS3):c.503T>C (p.Leu168Pro)	ADAMTS3 (L168P)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 3	GPathogenic