ClinVar for Gene (Select 745) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242168	NM_001127392.3(MYRF):c.729G>T (p.Gln243His)	MYRF (Q234H +1 more)	Single nucleotide variant (missense variant)	Cardiac-urogenital syndrome	GUncertain significance
Select item 3235925	NM_001127392.3(MYRF):c.859_1591-84del	LOC130005807, MYRF	Deletion (splice acceptor variant +1 more)	Cardiac-urogenital syndrome	GLikely pathogenic
Select item 3235908	NM_001127392.3(MYRF):c.135-119_1062del	MYRF	Deletion (splice acceptor variant +1 more)	Cardiac-urogenital syndrome	GPathogenic
Select item 3169664	NM_001127392.3(MYRF):c.784C>G (p.Pro262Ala)	MYRF (P253A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169656	NM_001127392.3(MYRF):c.580C>T (p.Pro194Ser)	MYRF (P194S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169630	NM_001127392.3(MYRF):c.3182C>G (p.Thr1061Ser)	MYRF (T1061S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169627	NM_001127392.3(MYRF):c.3007G>A (p.Gly1003Ser)	MYRF (G968S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169607	NM_001127392.3(MYRF):c.278C>T (p.Pro93Leu)	MYRF (P93L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169599	NM_001127392.3(MYRF):c.2614C>G (p.Arg872Gly)	MYRF (R872G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169581	NM_001127392.3(MYRF):c.2198G>A (p.Arg733Gln)	MYRF (R733Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169577	NM_001127392.3(MYRF):c.2035G>T (p.Val679Leu)	MYRF (V670L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169574	NM_001127392.3(MYRF):c.1802C>G (p.Thr601Ser)	MYRF (T592S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169569	NM_001127392.3(MYRF):c.1249G>A (p.Val417Ile)	MYRF (V408I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169565	NM_001127392.3(MYRF):c.1231C>G (p.Leu411Val)	MYRF (L402V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169561	NM_001127392.3(MYRF):c.1123C>T (p.Leu375Phe)	MYRF (L375F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169560	NM_001127392.3(MYRF):c.1004A>C (p.Asp335Ala)	MYRF (D326A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068937	NM_001127392.3(MYRF):c.911C>A (p.Ser304Tyr)	MYRF (S295Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
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 3060602	NM_001127392.3(MYRF):c.1904-10C>T	MYRF	Single nucleotide variant (intron variant)	MYRF-related disorder	GBenign
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 3057910	NM_001127392.3(MYRF):c.129C>T (p.Ser43=)	MYRF	Single nucleotide variant (synonymous variant)	MYRF-related disorder	GLikely benign
Select item 3056275	NM_001127392.3(MYRF):c.2174+10C>T	MYRF	Single nucleotide variant (intron variant)	MYRF-related disorder	GLikely benign
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 3052701	NM_001127392.3(MYRF):c.2014-34TGGCCCA[5]	MYRF	Microsatellite (intron variant)	MYRF-related disorder	GLikely benign
Select item 3052451	NM_001127392.3(MYRF):c.3375+10G>A	MYRF	Single nucleotide variant (intron variant)	MYRF-related disorder	GLikely benign
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 3050622	NM_001127392.3(MYRF):c.1116-4C>T	MYRF	Single nucleotide variant (intron 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 3049508	NM_001127392.3(MYRF):c.2415C>T (p.Ala805=)	MYRF	Single nucleotide variant (synonymous variant +1 more)	MYRF-related disorder	GBenign
Select item 3049494	NM_001127392.3(MYRF):c.2014-34TGGCCCA[3]	MYRF	Microsatellite (intron variant)	MYRF-related disorder	GLikely benign
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 3048051	NM_001127392.3(MYRF):c.1116-6C>T	MYRF	Single nucleotide variant (intron variant)	MYRF-related disorder	GLikely benign
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 3045829	NM_001127392.3(MYRF):c.1248C>T (p.Tyr416=)	MYRF	Single nucleotide variant (synonymous variant)	MYRF-related disorder	GLikely benign
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 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 3045108	NM_001127392.3(MYRF):c.150C>T (p.Ile50=)	MYRF	Single nucleotide variant (synonymous 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 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 3041240	NM_001127392.3(MYRF):c.1116-10G>C	MYRF	Single nucleotide variant (intron variant)	MYRF-related disorder	GLikely benign
Select item 3039587	NM_001127392.3(MYRF):c.1846A>C (p.Arg616=)	MYRF	Single nucleotide variant (synonymous variant)	MYRF-related disorder	GBenign
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 3037556	NM_001127392.3(MYRF):c.570A>C (p.Pro190=)	MYRF	Single nucleotide variant (synonymous variant)	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 3037214	NM_001127392.3(MYRF):c.567G>C (p.Pro189=)	MYRF	Single nucleotide variant (synonymous variant)	MYRF-related disorder	GLikely benign
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 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 3035722	NM_001127392.3(MYRF):c.1116-3dup	MYRF	Duplication (intron variant)	MYRF-related disorder	GLikely benign
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 3032250	NM_001127392.3(MYRF):c.402A>G (p.Thr134=)	MYRF	Single nucleotide variant (synonymous variant)	MYRF-related disorder	GLikely benign
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 3031299	NM_001127392.3(MYRF):c.3333G>A (p.Leu1111=)	MYRF	Single nucleotide variant (synonymous variant)	MYRF-related disorder	GLikely benign
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 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 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 2681425	NM_001127392.3(MYRF):c.2640C>T (p.His880=)	MYRF	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2663707	NM_001127392.3(MYRF):c.3431del (p.Phe1144fs)	MYRF (F1104fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2641838	NM_001127392.3(MYRF):c.2898T>C (p.Pro966=)	MYRF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641837	NM_001127392.3(MYRF):c.2555A>G (p.Gln852Arg)	MYRF (Q817R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2641836	NM_001127392.3(MYRF):c.2136C>T (p.Leu712=)	MYRF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641835	NM_001127392.3(MYRF):c.1659C>G (p.Thr553=)	MYRF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641834	NM_001127392.3(MYRF):c.1560C>T (p.Ala520=)	MYRF	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2641833	NM_001127392.3(MYRF):c.429C>A (p.Gly143=)	MYRF	Single nucleotide variant (synonymous variant)	not provided	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 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 2631584	NM_001127392.3(MYRF):c.1415del (p.Thr472fs)	MYRF (T463fs +1 more)	Deletion (frameshift variant)	MYRF-related disorder	GLikely pathogenic
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 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 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 2621233	NM_001127392.3(MYRF):c.797T>A (p.Leu266His)	MYRF (L266H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592269	NM_001127392.3(MYRF):c.2900G>C (p.Gly967Ala)	MYRF (G967A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2584483	NM_001127392.3(MYRF):c.2956C>T (p.Arg986Ter)	MYRF (R951* +1 more)	Single nucleotide variant (nonsense)	MYRF-related disorder	GPathogenic
Select item 2582895	NM_001127392.3(MYRF):c.871C>T (p.Arg291Ter)	MYRF (R282* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 2582214	NM_001127392.3(MYRF):c.1067A>G (p.His356Arg)	MYRF (H347R +1 more)	Single nucleotide variant (missense variant)	not provided	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 2553696	NM_001127392.3(MYRF):c.1261G>A (p.Glu421Lys)	MYRF (E412K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528491	NM_001127392.3(MYRF):c.475C>T (p.Arg159Cys)	MYRF (R150C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527955	NM_001127392.3(MYRF):c.299A>T (p.Asn100Ile)	MYRF (N91I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524869	NM_001127392.3(MYRF):c.653C>T (p.Ala218Val)	MYRF (A209V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524168	NM_001127392.3(MYRF):c.2668C>T (p.Pro890Ser)	MYRF (P890S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2517376	NM_001127392.3(MYRF):c.2257G>A (p.Val753Met)	MYRF (V744M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2500368	NM_001127392.3(MYRF):c.710T>C (p.Leu237Pro)	MYRF (L228P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2492070	NM_001127392.3(MYRF):c.2393T>C (p.Val798Ala)	MYRF (V798A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486986	NM_001127392.3(MYRF):c.3001G>T (p.Ala1001Ser)	MYRF (A1001S +1 more)	Single nucleotide variant (missense variant)	MYRF-related disorder +1 more	GUncertain significance
Select item 2454891	NM_001127392.3(MYRF):c.505G>A (p.Val169Met)	MYRF (V160M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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

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