malephora frameshi - ClinVar

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The following term was not found in ClinVar: malephora.
Showing results for Malephora framesii. Your search for Malephora framesii retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2358	NM_206933.4(USH2A):c.949C>A (p.Arg317=)	USH2A	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 39 +10 more	GPathogenic
Select item 47012	NM_001267550.2(TTN):c.47506C>T (p.Gln15836Ter)	TTN-AS1, TTN (Q15836* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy +2 more	GLikely pathogenic
Select item 179338	NM_000335.5(SCN5A):c.3992del (p.Pro1331fs)	SCN5A (P1278fs +2 more)	Deletion (frameshift variant)	Brugada syndrome +2 more	GPathogenic
Select item 163392	NC_000007.14:g.74056273del	ELN	Deletion	Supravalvar aortic stenosis	GLikely pathogenic
Select item 164021	NM_000256.3(MYBPC3):c.3776del (p.Gln1259fs)	MYBPC3	Deletion	not provided +5 more	GPathogenic/Likely pathogenic
Select item 181096	NM_000256.3(MYBPC3):c.3217dupC	MYBPC3	Duplication	Hypertrophic cardiomyopathy +1 more	GPathogenic/Likely pathogenic
Select item 43152	NC_000011.10:g.77162854del	MYO7A	Deletion	Rare genetic deafness	GPathogenic
Select item 228287	NM_001005242.3(PKP2):c.1301dup (p.Ala434_Glu435insTer)	PKP2	Duplication (frameshift variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely pathogenic
Select item 45506	NM_001110219.3(GJB6):c.60_61delinsT (p.Lys22fs)	GJB6 (K22fs)	Indel (frameshift variant)	not specified +1 more	GUncertain significance
Select item 52785	NM_000059.4(BRCA2):c.9253del (p.Thr3085fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic