MYRF[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146819	GRCh38/hg38 11q12.2(chr11:61409529-61821159)x3	CPSF7, DAGLA +30 more	Copy number gain	See cases	GLikely benign
Select item 1248440	NC_000011.10:g.61752514C>G	LOC130005805, MYRF	Single nucleotide variant	not provided	GBenign
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 1246473	NM_001127392.3(MYRF):c.46+2697G>T	MYRF, MYRF-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
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 3235908	NM_001127392.3(MYRF):c.135-119_1062del	MYRF	Deletion (splice acceptor variant +1 more)	Cardiac-urogenital syndrome	GPathogenic
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 2366952	NM_001127392.3(MYRF):c.227G>A (p.Ser76Asn)	MYRF (S67N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 996740	NM_001127392.3(MYRF):c.239dup (p.Gly81fs)	MYRF (G72fs +1 more)	Duplication (frameshift variant)	Heart, malformation of +2 more	GLikely pathogenic
Select item 2368207	NM_001127392.3(MYRF):c.251C>T (p.Pro84Leu)	MYRF (P84L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 2269114	NM_001127392.3(MYRF):c.289A>C (p.Thr97Pro)	MYRF (T88P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 1343185	NM_001127392.3(MYRF):c.306C>G (p.Asn102Lys)	MYRF (N102K +1 more)	Single nucleotide variant (missense variant)	Developmental disorder	GUncertain significance
Select item 1202589	NM_001127392.3(MYRF):c.313A>G (p.Asn105Asp)	MYRF (N105D +1 more)	Single nucleotide variant (missense variant)	Disorder of sexual differentiation	GLikely pathogenic
Select item 2317208	NM_001127392.3(MYRF):c.323G>A (p.Gly108Asp)	MYRF (G99D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1176284	NM_001127392.3(MYRF):c.350del (p.Gly117fs)	MYRF (G108fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
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 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 1268050	NM_001127392.3(MYRF):c.398+104A>T	MYRF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245970	NM_001127392.3(MYRF):c.398+215T>C	MYRF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230875	NM_001127392.3(MYRF):c.399-149G>A	MYRF	Single nucleotide variant (intron variant)	not provided	GBenign
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 917641	NM_001127392.3(MYRF):c.425C>G (p.Ser142Trp)	MYRF (S133W +1 more)	Single nucleotide variant (missense variant)	not specified	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 2641833	NM_001127392.3(MYRF):c.429C>A (p.Gly143=)	MYRF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1230861	NM_001127392.3(MYRF):c.461-189T>G	MYRF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275657	NM_001127392.3(MYRF):c.461-28G>A	MYRF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1027689	NM_001127392.3(MYRF):c.463C>T (p.Pro155Ser)	MYRF (P146S +1 more)	Single nucleotide variant (missense variant)	Encephalitis/encephalopathy, mild, with reversible myelin vacuolization	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 2633042	NM_001127392.3(MYRF):c.492_493del (p.Glu164fs)	MYRF (E155fs +1 more)	Microsatellite (frameshift variant)	MYRF-related disorder	GPathogenic
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 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 2266494	NM_001127392.3(MYRF):c.533C>T (p.Pro178Leu)	MYRF (P178L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2283294	NM_001127392.3(MYRF):c.571C>T (p.Pro191Ser)	MYRF (P182S +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 2259334	NM_001127392.3(MYRF):c.607C>T (p.Arg203Trp)	MYRF (R203W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1527884	NM_001127392.3(MYRF):c.643del (p.His215fs)	MYRF (H206fs +1 more)	Deletion (frameshift variant)	Cardiac-urogenital syndrome	GLikely pathogenic
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 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 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 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 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 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 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 1233291	NM_001127392.3(MYRF):c.789C>G (p.Pro263=)	MYRF	Single nucleotide variant (synonymous variant)	MYRF-related disorder +1 more	GBenign
Select item 2244538	NM_001127392.3(MYRF):c.790A>C (p.Ser264Arg)	MYRF (S255R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 2338433	NM_001127392.3(MYRF):c.842C>T (p.Thr281Ile)	MYRF (T281I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3235925	NM_001127392.3(MYRF):c.859_1591-84del	LOC130005807, MYRF	Deletion (splice acceptor variant +1 more)	Cardiac-urogenital syndrome	GLikely pathogenic
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 2166489	NM_001127392.3(MYRF):c.872G>A (p.Arg291Gln)	MYRF (R282Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 3038645	NM_001127392.3(MYRF):c.939C>T (p.Ser313=)	MYRF	Single nucleotide variant (synonymous variant)	MYRF-related disorder	GLikely benign
Select item 2372602	NM_001127392.3(MYRF):c.944C>T (p.Ala315Val)	MYRF (A306V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 1338864	NM_001127392.3(MYRF):c.1063C>T (p.Pro355Ser)	MYRF (P346S +1 more)	Single nucleotide variant (missense variant)	Scimitar syndrome	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 1180013	NM_001127392.3(MYRF):c.1072C>T (p.Gln358Ter)	MYRF (Q349* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 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 996606	NM_001127392.3(MYRF):c.1160T>C (p.Phe387Ser)	MYRF (F378S +1 more)	Single nucleotide variant (missense variant)	Heart, malformation of +1 more	GLikely pathogenic
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 623659	NM_001127392.3(MYRF):c.1200C>A (p.Asn400Lys)	MYRF (N400K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2307379	NM_001127392.3(MYRF):c.1207C>T (p.Gln403Ter)	MYRF (Q403* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
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 560883	NM_001127392.3(MYRF):c.1208A>G (p.Gln403Arg)	MYRF (Q403R +1 more)	Single nucleotide variant (missense variant)	Encephalitis/encephalopathy, mild, with reversible myelin vacuolization	GPathogenic
Select item 996607	NM_001127392.3(MYRF):c.1209G>C (p.Gln403His)	MYRF (Q394H +1 more)	Single nucleotide variant (missense variant)	Heart, malformation of +2 more	GLikely pathogenic
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 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 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 599373	NM_001127392.3(MYRF):c.1254_1255dup (p.Thr419fs)	MYRF (T419fs +1 more)	Duplication (frameshift variant)	Cardiac-urogenital syndrome	GPathogenic
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
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 720320	NM_001127392.3(MYRF):c.1269C>T (p.Leu423=)	MYRF	Single nucleotide variant (synonymous variant)	not specified +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 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 1225263	NM_001127392.3(MYRF):c.1312-29T>C	MYRF	Single nucleotide variant (intron variant)	not provided	GBenign
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 1706309	NM_001127392.3(MYRF):c.1351C>G (p.Gln451Glu)	MYRF (Q442E +1 more)	Single nucleotide variant (missense variant)	not provided	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 977397	NM_001127392.3(MYRF):c.1420G>A (p.Val474Met)	MYRF (V465M +1 more)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 996608	NM_001127392.3(MYRF):c.1435C>G (p.Leu479Val)	MYRF (L470V +1 more)	Single nucleotide variant (missense variant)	Heart, malformation of +1 more	GLikely pathogenic
Select item 1237735	NM_001127392.3(MYRF):c.1499+57T>C	MYRF	Single nucleotide variant (intron variant)	not provided	GBenign

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