Related gene-specific medical variations for Gene (Select 2122) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359122	NM_004991.4(MECOM):c.627T>A (p.Tyr209Ter)	MECOM (Y209* +2 more)	Single nucleotide variant (nonsense)	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2	GPathogenic
Select item 3341141	NM_004991.4(MECOM):c.2117_2120del (p.Ser706fs)	MECOM (S194fs +5 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
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 3062716	GRCh37/hg19 3q26.2(chr3:168744704-168855633)x1	MECOM	Copy number loss	not specified	GPathogenic
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 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 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 1527054	GRCh37/hg19 3q26.2(chr3:168591578-169388670)	MECOM	Copy number gain	not specified	GUncertain significance
Select item 1334188	NM_004991.4(MECOM):c.695G>A (p.Cys232Tyr)	MECOM (C108Y +2 more)	Single nucleotide variant (missense variant)	Radioulnar synostosis	GUncertain significance
Select item 1334187	NM_004991.4(MECOM):c.2912T>C (p.Ile971Thr)	MECOM (I450T +8 more)	Single nucleotide variant (missense variant)	Radioulnar synostosis	GLikely pathogenic
Select item 1334186	NM_004991.4(MECOM):c.2906G>A (p.Arg969His)	MECOM (R448H +8 more)	Single nucleotide variant (missense variant)	Radioulnar synostosis	GPathogenic
Select item 1334184	NM_004991.4(MECOM):c.1630G>T (p.Ala544Ser)	MECOM (A356S +3 more)	Single nucleotide variant (missense variant +1 more)	Radioulnar synostosis	GUncertain significance
Select item 1334183	NM_004991.4(MECOM):c.2893C>G (p.Gln965Glu)	MECOM (Q444E +8 more)	Single nucleotide variant (missense variant)	Radioulnar synostosis	GLikely pathogenic
Select item 1334182	NM_004991.4(MECOM):c.2905C>T (p.Arg969Cys)	MECOM (R448C +8 more)	Single nucleotide variant (missense variant)	Radioulnar synostosis	GPathogenic
Select item 814496	GRCh37/hg19 3q26.2(chr3:168665376-168815209)x1	MECOM	Copy number loss	not provided	GLikely pathogenic
Select item 91962	NM_004991.4(MECOM):c.3314T>C (p.Val1105Ala)	MECOM (V1105A +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance