"PreventionGenetics, part of Exact Sciences"[submitter] AND "MYRF"[gen - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3035971	NM_001127392.3(MYRF):c.46+2627G>C	MYRF, MYRF-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	MYRF-related disorder	GLikely benign
Select item 3057910	NM_001127392.3(MYRF):c.129C>T (p.Ser43=)	MYRF	Single nucleotide variant (synonymous variant)	MYRF-related disorder	GLikely benign
Select item 3045108	NM_001127392.3(MYRF):c.150C>T (p.Ile50=)	MYRF	Single nucleotide variant (synonymous variant)	MYRF-related disorder	GLikely benign
Select item 3043481	NM_001127392.3(MYRF):c.154G>A (p.Ala52Thr)	MYRF (A43T +1 more)	Single nucleotide variant (missense variant)	MYRF-related disorder	GBenign
Select item 3047759	NM_001127392.3(MYRF):c.171C>T (p.Ala57=)	MYRF	Single nucleotide variant (synonymous variant)	MYRF-related disorder	GLikely benign
Select item 3047490	NM_001127392.3(MYRF):c.399-4G>A	MYRF	Single nucleotide variant (intron variant)	MYRF-related disorder	GLikely benign
Select item 3032250	NM_001127392.3(MYRF):c.402A>G (p.Thr134=)	MYRF	Single nucleotide variant (synonymous variant)	MYRF-related disorder	GLikely benign
Select item 2633042	NM_001127392.3(MYRF):c.492_493del (p.Glu164fs)	MYRF (E155fs +1 more)	Microsatellite (frameshift variant)	MYRF-related disorder	GPathogenic
Select item 1986875	NM_001127392.3(MYRF):c.520C>T (p.Arg174Cys)	MYRF (R174C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3051447	NM_001127392.3(MYRF):c.521G>A (p.Arg174His)	MYRF (R165H +1 more)	Single nucleotide variant (missense variant)	MYRF-related disorder	GLikely benign
Select item 3037214	NM_001127392.3(MYRF):c.567G>C (p.Pro189=)	MYRF	Single nucleotide variant (synonymous variant)	MYRF-related disorder	GLikely benign
Select item 3037556	NM_001127392.3(MYRF):c.570A>C (p.Pro190=)	MYRF	Single nucleotide variant (synonymous variant)	MYRF-related disorder	GLikely benign
Select item 3059086	NM_001127392.3(MYRF):c.620T>C (p.Met207Thr)	MYRF (M198T +1 more)	Single nucleotide variant (missense variant)	MYRF-related disorder	GLikely benign
Select item 3050477	NM_001127392.3(MYRF):c.701C>T (p.Ser234Phe)	MYRF (S225F +1 more)	Single nucleotide variant (missense variant)	MYRF-related disorder	GBenign
Select item 1233291	NM_001127392.3(MYRF):c.789C>G (p.Pro263=)	MYRF	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3053408	NM_001127392.3(MYRF):c.848C>T (p.Thr283Ile)	MYRF (T274I +1 more)	Single nucleotide variant (missense variant)	MYRF-related disorder	GLikely benign
Select item 3043694	NM_001127392.3(MYRF):c.905C>T (p.Pro302Leu)	MYRF (P293L +1 more)	Single nucleotide variant (missense variant)	MYRF-related disorder	GLikely benign
Select item 3038645	NM_001127392.3(MYRF):c.939C>T (p.Ser313=)	MYRF	Single nucleotide variant (synonymous variant)	MYRF-related disorder	GLikely benign
Select item 3041240	NM_001127392.3(MYRF):c.1116-10G>C	MYRF	Single nucleotide variant (intron variant)	MYRF-related disorder	GLikely benign
Select item 3035722	NM_001127392.3(MYRF):c.1116-3dup	MYRF	Duplication (intron variant)	MYRF-related disorder	GLikely benign
Select item 3048051	NM_001127392.3(MYRF):c.1116-6C>T	MYRF	Single nucleotide variant (intron variant)	MYRF-related disorder	GLikely benign
Select item 3050622	NM_001127392.3(MYRF):c.1116-4C>T	MYRF	Single nucleotide variant (intron variant)	MYRF-related disorder	GLikely benign
Select item 2632943	NM_001127392.3(MYRF):c.1171G>A (p.Asp391Asn)	MYRF (D382N +1 more)	Single nucleotide variant (missense variant)	MYRF-related disorder	GUncertain significance
Select item 3030545	NM_001127392.3(MYRF):c.1208A>T (p.Gln403Leu)	MYRF (Q394L +1 more)	Single nucleotide variant (missense variant)	MYRF-related disorder	GPathogenic
Select item 2630563	NM_001127392.3(MYRF):c.1241C>T (p.Pro414Leu)	MYRF (P405L +1 more)	Single nucleotide variant (missense variant)	MYRF-related disorder	GLikely pathogenic
Select item 3045829	NM_001127392.3(MYRF):c.1248C>T (p.Tyr416=)	MYRF	Single nucleotide variant (synonymous variant)	MYRF-related disorder	GLikely benign
Select item 720320	NM_001127392.3(MYRF):c.1269C>T (p.Leu423=)	MYRF	Single nucleotide variant (synonymous variant)	MYRF-related disorder +2 more	GBenign
Select item 3045520	NM_001127392.3(MYRF):c.1287C>T (p.Phe429=)	MYRF	Single nucleotide variant (synonymous variant)	MYRF-related disorder	GLikely benign
Select item 2631584	NM_001127392.3(MYRF):c.1415del (p.Thr472fs)	MYRF (T463fs +1 more)	Deletion (frameshift variant)	MYRF-related disorder	GLikely pathogenic
Select item 2641834	NM_001127392.3(MYRF):c.1560C>T (p.Ala520=)	MYRF	Single nucleotide variant (synonymous variant)	MYRF-related disorder +1 more	GBenign
Select item 2628486	NM_001127392.3(MYRF):c.1577G>A (p.Arg526His)	MYRF (R517H +1 more)	Single nucleotide variant (missense variant)	MYRF-related disorder	GLikely pathogenic
Select item 3039587	NM_001127392.3(MYRF):c.1846A>C (p.Arg616=)	MYRF	Single nucleotide variant (synonymous variant)	MYRF-related disorder	GBenign
Select item 2631378	NM_001127392.3(MYRF):c.1892C>A (p.Ala631Glu)	MYRF (A622E +1 more)	Single nucleotide variant (missense variant)	MYRF-related disorder	GUncertain significance
Select item 3060602	NM_001127392.3(MYRF):c.1904-10C>T	MYRF	Single nucleotide variant (intron variant)	MYRF-related disorder	GBenign
Select item 3052701	NM_001127392.3(MYRF):c.2014-34TGGCCCA[5]	MYRF	Microsatellite (intron variant)	MYRF-related disorder	GLikely benign
Select item 3049494	NM_001127392.3(MYRF):c.2014-34TGGCCCA[3]	MYRF	Microsatellite (intron variant)	MYRF-related disorder	GLikely benign
Select item 996604	NM_001127392.3(MYRF):c.2036T>C (p.Val679Ala)	MYRF (V670A +1 more)	Single nucleotide variant (missense variant)	MYRF-related disorder	GLikely pathogenic
Select item 3037036	NM_001127392.3(MYRF):c.2166C>T (p.Gly722=)	MYRF	Single nucleotide variant (synonymous variant)	MYRF-related disorder	GLikely benign
Select item 771442	NM_001127392.3(MYRF):c.2167G>A (p.Ala723Thr)	MYRF (A723T +1 more)	Single nucleotide variant (missense variant)	MYRF-related disorder +1 more	GBenign
Select item 3056275	NM_001127392.3(MYRF):c.2174+10C>T	MYRF	Single nucleotide variant (intron variant)	MYRF-related disorder	GLikely benign
Select item 2522258	NM_001127392.3(MYRF):c.2354C>T (p.Thr785Ile)	MYRF (T776I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3031629	NM_001127392.3(MYRF):c.2408C>T (p.Ser803Phe)	MYRF (S803F)	Single nucleotide variant (missense variant +1 more)	MYRF-related disorder	GLikely benign
Select item 3049508	NM_001127392.3(MYRF):c.2415C>T (p.Ala805=)	MYRF	Single nucleotide variant (synonymous variant +1 more)	MYRF-related disorder	GBenign
Select item 3033828	NM_001127392.3(MYRF):c.2595G>A (p.Ser865=)	MYRF	Single nucleotide variant (synonymous variant)	MYRF-related disorder	GLikely benign
Select item 1252179	NM_001127392.3(MYRF):c.2759G>A (p.Arg920His)	MYRF (R885H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1696488	NM_001127392.3(MYRF):c.2764+3A>G	MYRF	Single nucleotide variant (intron variant)	MYRF-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2486986	NM_001127392.3(MYRF):c.3001G>T (p.Ala1001Ser)	MYRF (A1001S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3049224	NM_001127392.3(MYRF):c.3026T>C (p.Leu1009Pro)	MYRF (L1009P)	Single nucleotide variant (missense variant +1 more)	MYRF-related disorder	GLikely benign
Select item 3037349	NM_001127392.3(MYRF):c.3119+8G>A	MYRF	Single nucleotide variant (intron variant)	MYRF-related disorder	GLikely benign
Select item 722194	NM_001127392.3(MYRF):c.3207C>T (p.Pro1069=)	MYRF	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3031299	NM_001127392.3(MYRF):c.3333G>A (p.Leu1111=)	MYRF	Single nucleotide variant (synonymous variant)	MYRF-related disorder	GLikely benign
Select item 3045507	NM_001127392.3(MYRF):c.3341G>A (p.Arg1114His)	MYRF (R1074H +1 more)	Single nucleotide variant (missense variant)	MYRF-related disorder	GBenign
Select item 3052451	NM_001127392.3(MYRF):c.3375+10G>A	MYRF	Single nucleotide variant (intron variant)	MYRF-related disorder	GLikely benign

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Items: 53