Related gene-specific medical variations for Gene (Select 745) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235908	NM_001127392.3(MYRF):c.135-119_1062del	MYRF	Deletion (splice acceptor variant +1 more)	Cardiac-urogenital syndrome	GPathogenic
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 3035971	NM_001127392.3(MYRF):c.46+2627G>C	MYRF-AS1, MYRF	Single nucleotide variant (5 prime UTR variant +1 more)	MYRF-related disorder	GLikely benign
Select item 2689520	NM_001127392.3(MYRF):c.2735C>T (p.Pro912Leu)	MYRF (P877L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 2434003	NM_001127392.3(MYRF):c.277C>T (p.Pro93Ser)	MYRF (P84S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434002	NM_001127392.3(MYRF):c.2155G>T (p.Gly719Cys)	MYRF (G710C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434001	NM_001127392.3(MYRF):c.800A>G (p.Asn267Ser)	MYRF (N258S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434000	NM_001127392.3(MYRF):c.2908G>A (p.Gly970Ser)	MYRF (G935S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1527884	NM_001127392.3(MYRF):c.643del (p.His215fs)	MYRF (H206fs +1 more)	Deletion (frameshift variant)	Cardiac-urogenital syndrome	GLikely pathogenic
Select item 1324773	NM_001127392.3(MYRF):c.2248-2A>C	MYRF	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1324772	NM_001127392.3(MYRF):c.1912_1913dup (p.Gln639fs)	MYRF (Q630fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1246473	NM_001127392.3(MYRF):c.46+2697G>T	MYRF, MYRF-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
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 977397	NM_001127392.3(MYRF):c.1420G>A (p.Val474Met)	MYRF (V465M +1 more)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 161665	NM_001127392.3(MYRF):c.1256C>T (p.Thr419Met)	MYRF (T410M +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance

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Links from Gene

Items: 22