ClinVar for MedGen (Select 901732) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3340069	NM_004991.4(MECOM):c.2762A>G (p.Tyr921Cys)	MECOM (Y400C +8 more)	Single nucleotide variant (missense variant)	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2	GUncertain significance
Select item 3235918	NM_004991.4(MECOM):c.375+7162G>T	MECOM	Single nucleotide variant (intron variant)	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2	GUncertain significance
Select item 2791266	NM_004991.4(MECOM):c.2548C>A (p.Pro850Thr)	MECOM (P338T +5 more)	Single nucleotide variant (missense variant)	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 +1 more	GUncertain significance
Select item 2663785	NM_001753.5(CAV1):c.284C>T (p.Thr95Met)	CAV1 (T64M +1 more)	Single nucleotide variant (missense variant)	CAV1-related disorder +1 more	GUncertain significance
Select item 2627761	NM_004991.4(MECOM):c.3065C>T (p.Ala1022Val)	MECOM (A1013V +8 more)	Single nucleotide variant (missense variant)	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2	GUncertain significance
Select item 2616701	NM_004991.4(MECOM):c.405C>A (p.Phe135Leu)	MECOM (F11L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2582652	NM_004991.4(MECOM):c.1268A>C (p.His423Pro)	MECOM (H235P +3 more)	Single nucleotide variant (missense variant +1 more)	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2	GUncertain significance
Select item 2500844	NM_004991.4(MECOM):c.2772-4A>G	MECOM	Single nucleotide variant (intron variant)	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2	GLikely pathogenic
Select item 2433684	NM_004991.4(MECOM):c.1384G>T (p.Ala462Ser)	MECOM (A274S +3 more)	Single nucleotide variant (missense variant +1 more)	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2	GUncertain significance
Select item 2433683	NM_004991.4(MECOM):c.2327G>A (p.Ser776Asn)	MECOM (S264N +5 more)	Single nucleotide variant (missense variant)	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2	GUncertain significance
Select item 1805733	NM_004991.4(MECOM):c.2577+4A>T	MECOM	Single nucleotide variant (intron variant)	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2	GUncertain significance
Select item 1805470	NM_004991.4(MECOM):c.2889C>G (p.Asn963Lys)	MECOM (N442K +8 more)	Single nucleotide variant (missense variant)	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2	GUncertain significance
Select item 1703775	NM_004991.4(MECOM):c.2315C>T (p.Pro772Leu)	MECOM (P260L +5 more)	Single nucleotide variant (missense variant)	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2	GUncertain significance
Select item 1703774	NM_004991.4(MECOM):c.739C>T (p.Gln247Ter)	MECOM (Q123* +2 more)	Single nucleotide variant (nonsense)	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2	GLikely pathogenic
Select item 1703773	NM_004991.4(MECOM):c.1256C>T (p.Ser419Phe)	MECOM (S231F +3 more)	Single nucleotide variant (missense variant +1 more)	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2	GUncertain significance
Select item 1699003	NM_004991.4(MECOM):c.2873_2875del (p.Phe958_Ser959delinsCys)	MECOM	Deletion (inframe_indel)	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2	GUncertain significance
Select item 1676728	NM_004991.4(MECOM):c.2398A>T (p.Lys800Ter)	MECOM (K288* +5 more)	Single nucleotide variant (nonsense)	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2	GLikely pathogenic
Select item 1337894	NM_004991.4(MECOM):c.2352T>C (p.Ser784=)	MECOM	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1188840	NM_004991.4(MECOM):c.2849G>C (p.Arg950Thr)	MECOM (R429T +8 more)	Single nucleotide variant (missense variant)	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2	GPathogenic
Select item 218953	NM_004991.4(MECOM):c.2812C>T (p.Arg938Trp)	MECOM (R750W +8 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 218952	NM_004991.4(MECOM):c.2816A>G (p.His939Arg)	MECOM (H751R +8 more)	Single nucleotide variant (missense variant)	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2	GPathogenic
Select item 218951	NM_004991.4(MECOM):c.2830A>G (p.Thr944Ala)	MECOM (T756A +8 more)	Single nucleotide variant (missense variant)	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2	GPathogenic

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Items: 22