ClinVar for MedGen (Select 394329) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1708125	NM_018947.6(CYCS):c.292T>C (p.Tyr98His)	CYCS (Y98H)	Single nucleotide variant (missense variant)	Thrombocytopenia 4	GUncertain significance
Select item 1703823	NM_018947.6(CYCS):c.290C>A (p.Ala97Asp)	CYCS (A97D)	Single nucleotide variant (missense variant)	Thrombocytopenia 4	GLikely pathogenic
Select item 1684433	NM_018947.6(CYCS):c.59C>T (p.Thr20Ile)	CYCS (T20I)	Single nucleotide variant (missense variant)	Thrombocytopenia 4	GUncertain significance
Select item 1684432	NM_018947.6(CYCS):c.62T>G (p.Val21Gly)	CYCS (V21G)	Single nucleotide variant (missense variant)	Thrombocytopenia 4	GUncertain significance
Select item 1684430	NM_018947.6(CYCS):c.94A>C (p.Asn32His)	CYCS (N32H)	Single nucleotide variant (missense variant)	Thrombocytopenia 4	GUncertain significance
Select item 1676752	NM_018947.6(CYCS):c.97C>G (p.Leu33Val)	CYCS (L33V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1210164	NM_018947.6(CYCS):c.79C>T (p.His27Tyr)	CYCS (H27Y)	Single nucleotide variant (missense variant)	Thrombocytopenia 4 +3 more	GPathogenic/Likely pathogenic
Select item 1032049	NM_018947.6(CYCS):c.170-3T>C	CYCS	Single nucleotide variant (intron variant)	Thrombocytopenia 4	GUncertain significance
Select item 810076	NM_018947.6(CYCS):c.154G>A (p.Ala52Thr)	CYCS (A52T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 627298	NM_018947.6(CYCS):c.308C>T (p.Thr103Ile)	CYCS (T103I)	Single nucleotide variant (missense variant)	Thrombocytopenia +1 more	GConflicting classifications of pathogenicity
Select item 599385	NM_018947.6(CYCS):c.301_303del (p.Lys101del)	CYCS (K101del)	Deletion (inframe_deletion)	Thrombocytopenia 4	GPathogenic
Select item 261063	NM_018947.6(CYCS):c.-6T>G	CYCS	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign
Select item 180656	NM_018947.6(CYCS):c.145T>C (p.Tyr49His)	CYCS (Y49H)	Single nucleotide variant (missense variant)	Thrombocytopenia 4	GPathogenic
Select item 16917	NM_018947.6(CYCS):c.124G>A (p.Gly42Ser)	CYCS (G42S)	Single nucleotide variant (missense variant)	Thrombocytopenia +1 more	GLikely pathogenic