ClinVar for MedGen (Select 375536) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065336	NM_014305.4(TGDS):c.103G>A (p.Val35Ile)	TGDS (V35I +1 more)	Single nucleotide variant (missense variant +1 more)	Catel-Manzke syndrome	GUncertain significance
Select item 2585204	NM_014305.4(TGDS):c.554A>C (p.Lys185Thr)	TGDS (K153T +1 more)	Single nucleotide variant (missense variant +1 more)	Catel-Manzke syndrome	GUncertain significance
Select item 2437069	NM_014305.4(TGDS):c.491A>C (p.Asn164Thr)	TGDS (N132T +1 more)	Single nucleotide variant (missense variant +1 more)	Catel-Manzke syndrome	GUncertain significance
Select item 2437068	NM_014305.4(TGDS):c.885-2A>C	TGDS	Single nucleotide variant (splice acceptor variant)	Catel-Manzke syndrome	GUncertain significance
Select item 2412789	NM_014305.4(TGDS):c.305C>T (p.Thr102Ile)	TGDS (T70I +1 more)	Single nucleotide variant (missense variant +1 more)	Catel-Manzke syndrome	GLikely pathogenic
Select item 2412788	NM_014305.4(TGDS):c.457-2A>G	TGDS	Single nucleotide variant (splice acceptor variant)	Catel-Manzke syndrome	GLikely pathogenic
Select item 1878395	NM_014305.4(TGDS):c.313+1G>A	TGDS	Single nucleotide variant (splice donor variant)	Catel-Manzke syndrome	GLikely pathogenic
Select item 978270	NM_003937.3(KYNU):c.326G>C (p.Trp109Ser)	KYNU (W109S)	Single nucleotide variant (missense variant)	Catel-Manzke syndrome	GPathogenic
Select item 978269	NM_003937.3(KYNU):c.989G>A (p.Arg330Gln)	KYNU (R330Q)	Single nucleotide variant (missense variant)	Catel-Manzke syndrome	GPathogenic
Select item 978268	NM_003937.3(KYNU):c.1282C>T (p.Arg428Trp)	KYNU (R428W)	Single nucleotide variant (missense variant)	Catel-Manzke syndrome +1 more	GPathogenic/Likely pathogenic
Select item 978267	NC_000002.12:g.142877008_142961693del	KYNU, LOC126806361 +1 more	Deletion	Catel-Manzke syndrome	GPathogenic
Select item 162460	NM_014305.4(TGDS):c.892A>G (p.Asn298Asp)	TGDS (N298D +1 more)	Single nucleotide variant (missense variant +1 more)	Catel-Manzke syndrome	GPathogenic
Select item 162459	NM_014305.4(TGDS):c.270_271del (p.Lys91fs)	TGDS (K59fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 162458	NM_014305.4(TGDS):c.294T>G (p.Phe98Leu)	TGDS (F98L +1 more)	Single nucleotide variant (missense variant +1 more)	Catel-Manzke syndrome	GPathogenic
Select item 162457	NM_014305.4(TGDS):c.269A>G (p.Glu90Gly)	TGDS (E90G +1 more)	Single nucleotide variant (missense variant +1 more)	Catel-Manzke syndrome	GPathogenic
Select item 162456	NM_014305.4(TGDS):c.700T>C (p.Tyr234His)	TGDS (Y234H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 162455	NM_014305.4(TGDS):c.298G>T (p.Ala100Ser)	TGDS (A100S +1 more)	Single nucleotide variant (missense variant +1 more)	Catel-Manzke syndrome +2 more	GPathogenic/Likely pathogenic