ClinVar for MedGen (Select 1648333) - ClinVar

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Items: 27

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24421651.	NM_001127392.3(MYRF):c.3301-13C>T GRCh37: Chr11:61553259 GRCh38: Chr11:61785787	MYRF		Cardiac-urogenital syndrome, Encephalitis/encephalopathy, mild, with reversible myelin vacuolization	Uncertain significance (Apr 18, 2022)	criteria provided, single submitter
Select item 24419252.	NM_001127392.3(MYRF):c.1543C>T (p.Gln515Ter) GRCh37: Chr11:61544302 GRCh38: Chr11:61776830	MYRF	Q506, Q515	Cardiac-urogenital syndrome, Encephalitis/encephalopathy, mild, with reversible myelin vacuolization	Pathogenic (May 1, 2021)	criteria provided, single submitter
Select item 24418543.	NM_001127392.3(MYRF):c.1515G>T (p.Val505=) GRCh37: Chr11:61544274 GRCh38: Chr11:61776802	MYRF		Cardiac-urogenital syndrome	Uncertain significance (Dec 15, 2022)	criteria provided, single submitter
Select item 24417794.	NM_001127392.3(MYRF):c.2416G>A (p.Val806Met) GRCh37: Chr11:61548194 GRCh38: Chr11:61780722	MYRF	V806M	Encephalitis/encephalopathy, mild, with reversible myelin vacuolization, Cardiac-urogenital syndrome	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 17102815.	NM_001127392.3(MYRF):c.428del (p.Gly143fs) GRCh37: Chr11:61536759 GRCh38: Chr11:61769287	MYRF	G134fs, G143fs	Cardiac-urogenital syndrome	Pathogenic (Jul 1, 2022)	no assertion criteria provided
Select item 16989326.	NM_001127392.3(MYRF):c.648C>A (p.Tyr216Ter) GRCh37: Chr11:61537905 GRCh38: Chr11:61770433	MYRF	Y207, Y216	Cardiac-urogenital syndrome	Pathogenic (Dec 21, 2020)	criteria provided, single submitter
Select item 16966107.	NM_001127392.3(MYRF):c.385C>T (p.Pro129Ser) GRCh37: Chr11:61533680 GRCh38: Chr11:61766208	MYRF	P120S, P129S	Cardiac-urogenital syndrome, Encephalitis/encephalopathy, mild, with reversible myelin vacuolization	Uncertain significance (Aug 13, 2021)	criteria provided, single submitter
Select item 16964888.	NM_001127392.3(MYRF):c.2764+3A>G GRCh37: Chr11:61548804 GRCh38: Chr11:61781332	MYRF		Cardiac-urogenital syndrome, Encephalitis/encephalopathy, mild, with reversible myelin vacuolization	Uncertain significance (Jun 23, 2021)	criteria provided, single submitter
Select item 16874679.	NM_001127392.3(MYRF):c.789del (p.Ser264fs) GRCh37: Chr11:61539013 GRCh38: Chr11:61771541	MYRF	S255fs, S264fs	Cardiac-urogenital syndrome, not provided	Pathogenic (May 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 168737910.	NM_001127392.3(MYRF):c.965G>A (p.Trp322Ter) GRCh37: Chr11:61539196 GRCh38: Chr11:61771724	MYRF	W313, W322	Cardiac-urogenital syndrome	Likely pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 152796711.	NM_001127392.3(MYRF):c.1702del (p.Asp568fs) GRCh37: Chr11:61544846 GRCh38: Chr11:61777374	MYRF	D559fs, D568fs	Cardiac-urogenital syndrome	Likely pathogenic (Jan 1, 2022)	criteria provided, single submitter
Select item 152788412.	NM_001127392.3(MYRF):c.643del (p.His215fs) GRCh37: Chr11:61537896 GRCh38: Chr11:61770424	MYRF	H206fs, H215fs	Cardiac-urogenital syndrome	Likely pathogenic (Jan 4, 2022)	criteria provided, single submitter
Select item 105081113.	NM_001127392.3(MYRF):c.3208del (p.Val1070fs) GRCh37: Chr11:61551765 GRCh38: Chr11:61784293	MYRF	V1030fs, V1070fs	Cardiac-urogenital syndrome	Likely pathogenic	criteria provided, single submitter
Select item 99280614.	NM_001127392.3(MYRF):c.2674A>G (p.Thr892Ala) GRCh37: Chr11:61548711 GRCh38: Chr11:61781239	MYRF	T857A, T892A	Seizure, Encephalitis/encephalopathy, mild, with reversible myelin vacuolization, Cardiac-urogenital syndrome	Uncertain significance (Aug 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 98636215.	NM_001127392.3(MYRF):c.2042C>A (p.Ala681Asp) GRCh37: Chr11:61546763 GRCh38: Chr11:61779291	MYRF	A672D, A681D	Cardiac-urogenital syndrome	Likely pathogenic (May 17, 2019)	criteria provided, single submitter
Select item 92944616.	NM_001127392.3(MYRF):c.2074C>G (p.Leu692Val) GRCh37: Chr11:61546795 GRCh38: Chr11:61779323	MYRF	L683V, L692V	Cardiac-urogenital syndrome	Likely pathogenic (Apr 2, 2020)	criteria provided, single submitter
Select item 92944317.	NM_001127392.3(MYRF):c.2572+1G>A GRCh37: Chr11:61548518 GRCh38: Chr11:61781046	MYRF		Cardiac-urogenital syndrome	Pathogenic (Feb 4, 2020)	criteria provided, single submitter
Select item 81771818.	NM_001127392.3(MYRF):c.789dup (p.Ser264fs) GRCh37: Chr11:61539012-61539013 GRCh38: Chr11:61771540-61771541	MYRF	S255fs, S264fs	not provided, Non-immune hydrops fetalis, Cardiac-urogenital syndrome	Pathogenic/Likely pathogenic (Dec 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80267819.	NM_001127392.3(MYRF):c.3367G>A (p.Ala1123Thr) GRCh37: Chr11:61553338 GRCh38: Chr11:61785866	MYRF	A1083T, A1123T	Cardiac-urogenital syndrome	Uncertain significance (May 28, 2019)	criteria provided, single submitter
Select item 63527620.	NM_001127392.3(MYRF):c.350_366delinsT (p.Gly117fs) GRCh37: Chr11:61533645-61533661 GRCh38: Chr11:61766173-61766189	MYRF	G108fs, G117fs	Cardiac-urogenital syndrome	Pathogenic (Apr 6, 2019)	no assertion criteria provided
Select item 63527521.	NM_001127392.3(MYRF):c.3239dup (p.Glu1081fs) GRCh37: Chr11:61551793-61551794 GRCh38: Chr11:61784321-61784322	MYRF	E1041fs, E1081fs	Cardiac-urogenital syndrome	Pathogenic (Apr 6, 2019)	no assertion criteria provided
Select item 63527422.	NM_001127392.3(MYRF):c.3118A>G (p.Arg1040Gly) GRCh37: Chr11:61551071 GRCh38: Chr11:61783599	MYRF	R1040G, R1000G	Cardiac-urogenital syndrome	Pathogenic (Apr 6, 2019)	no assertion criteria provided
Select item 61922923.	NM_001127392.3(MYRF):c.2084G>A (p.Arg695His) GRCh37: Chr11:61546805 GRCh38: Chr11:61779333	MYRF	R695H, R686H	Cardiac-urogenital syndrome	Uncertain significance (Nov 11, 2020)	criteria provided, single submitter
Select item 61922824.	NM_001127392.3(MYRF):c.1303G>A (p.Gly435Arg) GRCh37: Chr11:61541626 GRCh38: Chr11:61774154	MYRF	G435R, G426R	Cardiac-urogenital syndrome, Abnormality of the genitourinary system, Congenital diaphragmatic hernia, Heart, malformation of	Pathogenic/Likely pathogenic (Mar 5, 2019)	no assertion criteria provided
Select item 59937325.	NM_001127392.3(MYRF):c.1254_1255dup (p.Thr419fs) GRCh37: Chr11:61541575-61541576 GRCh38: Chr11:61774103-61774104	MYRF	T419fs, T410fs	Cardiac-urogenital syndrome	Pathogenic (Jan 11, 2019)	no assertion criteria provided
Select item 59937226.	NM_001127392.3(MYRF):c.2518C>T (p.Arg840Ter) GRCh37: Chr11:61548463 GRCh38: Chr11:61780991	MYRF	R840, R805	Cardiac-urogenital syndrome	Pathogenic (Jan 11, 2019)	no assertion criteria provided
Select item 37320027.	NM_001127392.3(MYRF):c.2336+1G>A GRCh37: Chr11:61547403 GRCh38: Chr11:61779931	MYRF		not specified	Uncertain significance (Nov 21, 2016)	criteria provided, single submitter

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Items: 27