ClinVar for MedGen (Select 1648333) - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066312	NM_001127392.3(MYRF):c.2481C>A (p.Cys827Ter)	MYRF (C827*)	Single nucleotide variant (nonsense +1 more)	Cardiac-urogenital syndrome	GLikely pathogenic
Select item 3064551	NM_001127392.3(MYRF):c.2641C>G (p.Pro881Ala)	MYRF (P846A +1 more)	Single nucleotide variant (missense variant)	Cardiac-urogenital syndrome	GLikely benign
Select item 3062253	NM_001127392.3(MYRF):c.1318_1319delinsA (p.Ala440fs)	MYRF (A431fs +1 more)	Indel (frameshift variant)	Cardiac-urogenital syndrome	GLikely pathogenic
Select item 2582568	NM_001127392.3(MYRF):c.2072A>T (p.Asn691Ile)	MYRF (N682I +1 more)	Single nucleotide variant (missense variant)	Cardiac-urogenital syndrome +1 more	GUncertain significance
Select item 2581072	NM_001127392.3(MYRF):c.1576C>T (p.Arg526Cys)	MYRF (R517C +1 more)	Single nucleotide variant (missense variant)	Cardiac-urogenital syndrome	GLikely pathogenic
Select item 2442165	NM_001127392.3(MYRF):c.3301-13C>T	MYRF	Single nucleotide variant (intron variant)	Cardiac-urogenital syndrome +1 more	GUncertain significance
Select item 2441925	NM_001127392.3(MYRF):c.1543C>T (p.Gln515Ter)	MYRF (Q506* +1 more)	Single nucleotide variant (nonsense)	Cardiac-urogenital syndrome +1 more	GPathogenic
Select item 2441854	NM_001127392.3(MYRF):c.1515G>T (p.Val505=)	MYRF	Single nucleotide variant (synonymous variant)	Cardiac-urogenital syndrome	GUncertain significance
Select item 2441779	NM_001127392.3(MYRF):c.2416G>A (p.Val806Met)	MYRF (V806M)	Single nucleotide variant (missense variant +1 more)	Encephalitis/encephalopathy, mild, with reversible myelin vacuolization +1 more	GUncertain significance
Select item 1710281	NM_001127392.3(MYRF):c.428del (p.Gly143fs)	MYRF (G134fs +1 more)	Deletion (frameshift variant)	Cardiac-urogenital syndrome	GPathogenic
Select item 1698932	NM_001127392.3(MYRF):c.648C>A (p.Tyr216Ter)	MYRF (Y207* +1 more)	Single nucleotide variant (nonsense)	Cardiac-urogenital syndrome	GPathogenic
Select item 1696610	NM_001127392.3(MYRF):c.385C>T (p.Pro129Ser)	MYRF (P120S +1 more)	Single nucleotide variant (missense variant)	Cardiac-urogenital syndrome +1 more	GUncertain significance
Select item 1696488	NM_001127392.3(MYRF):c.2764+3A>G	MYRF	Single nucleotide variant (intron variant)	MYRF-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1687467	NM_001127392.3(MYRF):c.789del (p.Ser264fs)	MYRF (S255fs +1 more)	Deletion (frameshift variant)	Cardiac-urogenital syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1687379	NM_001127392.3(MYRF):c.965G>A (p.Trp322Ter)	MYRF (W313* +1 more)	Single nucleotide variant (nonsense)	Cardiac-urogenital syndrome	GLikely pathogenic
Select item 1527967	NM_001127392.3(MYRF):c.1702del (p.Asp568fs)	MYRF (D559fs +1 more)	Deletion (frameshift variant)	Cardiac-urogenital syndrome	GLikely pathogenic
Select item 1527884	NM_001127392.3(MYRF):c.643del (p.His215fs)	MYRF (H206fs +1 more)	Deletion (frameshift variant)	Cardiac-urogenital syndrome	GLikely pathogenic
Select item 1050811	NM_001127392.3(MYRF):c.3208del (p.Val1070fs)	MYRF (V1030fs +1 more)	Deletion (frameshift variant)	Cardiac-urogenital syndrome	GLikely pathogenic
Select item 992806	NM_001127392.3(MYRF):c.2674A>G (p.Thr892Ala)	MYRF (T857A +1 more)	Single nucleotide variant (missense variant)	Seizure +2 more	GUncertain significance
Select item 986362	NM_001127392.3(MYRF):c.2042C>A (p.Ala681Asp)	MYRF (A672D +1 more)	Single nucleotide variant (missense variant)	Cardiac-urogenital syndrome	GLikely pathogenic
Select item 929446	NM_001127392.3(MYRF):c.2074C>G (p.Leu692Val)	MYRF (L683V +1 more)	Single nucleotide variant (missense variant)	Cardiac-urogenital syndrome	GLikely pathogenic
Select item 929443	NM_001127392.3(MYRF):c.2572+1G>A	MYRF	Single nucleotide variant (splice donor variant)	Cardiac-urogenital syndrome	GPathogenic
Select item 817718	NM_001127392.3(MYRF):c.789dup (p.Ser264fs)	MYRF (S255fs +1 more)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 802678	NM_001127392.3(MYRF):c.3367G>A (p.Ala1123Thr)	MYRF (A1083T +1 more)	Single nucleotide variant (missense variant)	Cardiac-urogenital syndrome	GUncertain significance
Select item 635276	NM_001127392.3(MYRF):c.350_366delinsT (p.Gly117fs)	MYRF (G108fs +1 more)	Indel (frameshift variant)	Cardiac-urogenital syndrome	GPathogenic
Select item 635275	NM_001127392.3(MYRF):c.3239dup (p.Glu1081fs)	MYRF (E1041fs +1 more)	Duplication (frameshift variant)	Cardiac-urogenital syndrome	GPathogenic
Select item 635274	NM_001127392.3(MYRF):c.3118A>G (p.Arg1040Gly)	MYRF (R1040G +1 more)	Single nucleotide variant (missense variant)	Cardiac-urogenital syndrome	GPathogenic
Select item 619229	NM_001127392.3(MYRF):c.2084G>A (p.Arg695His)	MYRF (R695H +1 more)	Single nucleotide variant (missense variant)	Cardiac-urogenital syndrome	GUncertain significance
Select item 619228	NM_001127392.3(MYRF):c.1303G>A (p.Gly435Arg)	MYRF (G435R +1 more)	Single nucleotide variant (missense variant)	Heart, malformation of +3 more	GPathogenic/Likely pathogenic
Select item 599373	NM_001127392.3(MYRF):c.1254_1255dup (p.Thr419fs)	MYRF (T419fs +1 more)	Duplication (frameshift variant)	Cardiac-urogenital syndrome	GPathogenic
Select item 599372	NM_001127392.3(MYRF):c.2518C>T (p.Arg840Ter)	MYRF (R840* +1 more)	Single nucleotide variant (nonsense)	Cardiac-urogenital syndrome	GPathogenic
Select item 373200	NM_001127392.3(MYRF):c.2336+1G>A	MYRF	Single nucleotide variant (splice donor variant)	not specified	GUncertain significance

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Items: 32