ClinVar for MedGen (Select 811509) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 341

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065290	NM_006790.3(MYOT):c.634C>T (p.Gln212Ter)	MYOT, PKD2L2-DT (Q212* +2 more)	Single nucleotide variant (nonsense)	Myofibrillar myopathy 3	GLikely pathogenic
Select item 3011844	NM_006790.3(MYOT):c.13G>A (p.Glu5Lys)	MYOT, PKD2L2-DT (E5K)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 2999257	NM_006790.3(MYOT):c.684-7C>A	MYOT, PKD2L2-DT	Single nucleotide variant (intron variant)	Myofibrillar myopathy 3	GLikely benign
Select item 2998468	NM_006790.3(MYOT):c.1281T>C (p.Asn427=)	MYOT, PKD2L2-DT	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 3	GLikely benign
Select item 2994371	NM_006790.3(MYOT):c.143C>G (p.Thr48Arg)	MYOT, PKD2L2-DT (T48R)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 2991665	NM_006790.3(MYOT):c.279A>G (p.Pro93=)	MYOT, PKD2L2-DT	Single nucleotide variant (5 prime UTR variant +2 more)	Myofibrillar myopathy 3	GLikely benign
Select item 2991380	NM_006790.3(MYOT):c.516T>C (p.Leu172=)	MYOT, PKD2L2-DT	Single nucleotide variant (5 prime UTR variant +1 more)	Myofibrillar myopathy 3	GLikely benign
Select item 2981072	NM_006790.3(MYOT):c.1392A>T (p.Leu464Phe)	MYOT, PKD2L2-DT (L349F +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3	GUncertain significance
Select item 2975121	NM_006790.3(MYOT):c.1424A>C (p.Gln475Pro)	MYOT, PKD2L2-DT (Q360P +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3	GUncertain significance
Select item 2963618	NM_006790.3(MYOT):c.1202A>G (p.Asp401Gly)	MYOT, PKD2L2-DT (D217G +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3	GUncertain significance
Select item 2955045	NM_006790.3(MYOT):c.531+16A>G	MYOT, PKD2L2-DT	Single nucleotide variant (intron variant)	Myofibrillar myopathy 3	GLikely benign
Select item 2919686	NM_006790.3(MYOT):c.693A>C (p.Ser231=)	MYOT, PKD2L2-DT	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 3	GLikely benign
Select item 2918818	NM_006790.3(MYOT):c.12C>T (p.Tyr4=)	MYOT, PKD2L2-DT	Single nucleotide variant (synonymous variant +1 more)	Myofibrillar myopathy 3	GLikely benign
Select item 2917341	NM_006790.3(MYOT):c.357-17_357-14del	MYOT, PKD2L2-DT	Deletion (intron variant)	Myofibrillar myopathy 3	GLikely benign
Select item 2915037	NM_006790.3(MYOT):c.427C>T (p.Pro143Ser)	MYOT, PKD2L2-DT (P143S +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 2914572	NM_006790.3(MYOT):c.61T>A (p.Leu21Met)	MYOT, PKD2L2-DT (L21M)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 2913234	NM_006790.3(MYOT):c.1479T>C (p.Tyr493=)	MYOT, PKD2L2-DT	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 3	GLikely benign
Select item 2912381	NM_006790.3(MYOT):c.1126C>G (p.Pro376Ala)	PKD2L2-DT, MYOT (P192A +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3	GUncertain significance
Select item 2911835	NM_006790.3(MYOT):c.1142T>C (p.Phe381Ser)	MYOT, PKD2L2-DT (F266S +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3	GUncertain significance
Select item 2904515	NM_006790.3(MYOT):c.198C>A (p.Ser66=)	MYOT, PKD2L2-DT	Single nucleotide variant (synonymous variant +1 more)	Myofibrillar myopathy 3	GLikely benign
Select item 2901606	NM_006790.3(MYOT):c.495G>C (p.Leu165=)	MYOT, PKD2L2-DT	Single nucleotide variant (5 prime UTR variant +1 more)	Myofibrillar myopathy 3	GLikely benign
Select item 2898275	NM_006790.3(MYOT):c.207C>T (p.Phe69=)	MYOT, PKD2L2-DT	Single nucleotide variant (synonymous variant +1 more)	Myofibrillar myopathy 3	GLikely benign
Select item 2892188	NM_006790.3(MYOT):c.816+12G>C	MYOT, PKD2L2-DT	Single nucleotide variant (intron variant)	Myofibrillar myopathy 3	GLikely benign
Select item 2891816	NM_006790.3(MYOT):c.176G>A (p.Ser59Asn)	MYOT, PKD2L2-DT (S59N)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 2888415	NM_006790.3(MYOT):c.1086G>C (p.Glu362Asp)	MYOT, PKD2L2-DT (E178D +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3	GUncertain significance
Select item 2872869	NM_006790.3(MYOT):c.740T>G (p.Phe247Cys)	MYOT, PKD2L2-DT (F247C +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3	GUncertain significance
Select item 2869487	NM_006790.3(MYOT):c.189C>G (p.Thr63=)	MYOT, PKD2L2-DT	Single nucleotide variant (synonymous variant +1 more)	Myofibrillar myopathy 3	GLikely benign
Select item 2867614	NM_006790.3(MYOT):c.653C>T (p.Ala218Val)	MYOT, PKD2L2-DT (A34V +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3	GUncertain significance
Select item 2853567	NM_006790.3(MYOT):c.1391_1398del (p.Tyr463_Leu464insTer)	MYOT, PKD2L2-DT	Deletion (nonsense)	Myofibrillar myopathy 3	GUncertain significance
Select item 2846760	NM_006790.3(MYOT):c.1324+9T>A	MYOT, PKD2L2-DT	Single nucleotide variant (intron variant)	Myofibrillar myopathy 3	GLikely benign
Select item 2846471	NM_006790.3(MYOT):c.1208C>T (p.Thr403Ile)	MYOT, PKD2L2-DT (T288I +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3	GUncertain significance
Select item 2845125	NM_006790.3(MYOT):c.735G>A (p.Glu245=)	MYOT, PKD2L2-DT	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 3	GLikely benign
Select item 2834586	NM_006790.3(MYOT):c.900G>A (p.Val300=)	MYOT, PKD2L2-DT	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 3	GLikely benign
Select item 2829237	NM_006790.3(MYOT):c.1396C>T (p.Leu466Phe)	MYOT, PKD2L2-DT (L351F +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3	GUncertain significance
Select item 2807400	NM_006790.3(MYOT):c.927C>A (p.Ile309=)	MYOT, PKD2L2-DT	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 3	GLikely benign
Select item 2801249	NM_006790.3(MYOT):c.685A>G (p.Ser229Gly)	MYOT, PKD2L2-DT (S114G +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3	GUncertain significance
Select item 2797504	NM_006790.3(MYOT):c.188C>T (p.Thr63Ile)	MYOT, PKD2L2-DT (T63I)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 2784360	NM_006790.3(MYOT):c.677A>T (p.Gln226Leu)	MYOT, PKD2L2-DT (Q42L +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3	GUncertain significance
Select item 2782972	NM_006790.3(MYOT):c.1369C>A (p.Arg457=)	MYOT, PKD2L2-DT	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 3	GUncertain significance
Select item 2779087	NM_006790.3(MYOT):c.565T>C (p.Leu189=)	MYOT, PKD2L2-DT	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 3	GLikely benign
Select item 2769628	NM_006790.3(MYOT):c.1191-19T>G	MYOT, PKD2L2-DT	Single nucleotide variant (intron variant)	Myofibrillar myopathy 3	GLikely benign
Select item 2763120	NM_006790.3(MYOT):c.1126C>A (p.Pro376Thr)	MYOT, PKD2L2-DT (P376T +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3	GUncertain significance
Select item 2751092	NM_006790.3(MYOT):c.562del (p.Arg188fs)	MYOT, PKD2L2-DT (R4fs +2 more)	Deletion (frameshift variant)	Myofibrillar myopathy 3	GUncertain significance
Select item 2747787	NM_006790.3(MYOT):c.473T>C (p.Ile158Thr)	MYOT, PKD2L2-DT (I158T +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 2747711	NM_006790.3(MYOT):c.817-14G>A	MYOT, PKD2L2-DT	Single nucleotide variant (intron variant)	Myofibrillar myopathy 3	GLikely benign
Select item 2745351	NM_006790.3(MYOT):c.1119G>A (p.Ser373=)	MYOT, PKD2L2-DT	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 3	GLikely benign
Select item 2734790	NM_006790.3(MYOT):c.32T>C (p.Ile11Thr)	MYOT, PKD2L2-DT (I11T)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 2732916	NM_006790.3(MYOT):c.855A>C (p.Leu285=)	MYOT, PKD2L2-DT	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 3	GLikely benign
Select item 2732133	NM_006790.3(MYOT):c.16C>G (p.Arg6Gly)	MYOT, PKD2L2-DT (R6G)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 2728892	NM_006790.3(MYOT):c.500G>A (p.Cys167Tyr)	MYOT, PKD2L2-DT (C167Y +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 2728798	NM_006790.3(MYOT):c.776T>G (p.Met259Arg)	MYOT, PKD2L2-DT (M75R +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3	GUncertain significance
Select item 2706735	NM_006790.3(MYOT):c.684-16C>A	MYOT, PKD2L2-DT	Single nucleotide variant (intron variant)	Myofibrillar myopathy 3	GLikely benign
Select item 2694867	NM_006790.3(MYOT):c.1307C>A (p.Thr436Lys)	MYOT, PKD2L2-DT (T436K +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3	GUncertain significance
Select item 2694184	NM_006790.3(MYOT):c.1129C>A (p.Pro377Thr)	MYOT, PKD2L2-DT (P377T +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3	GUncertain significance
Select item 2693284	NM_006790.3(MYOT):c.1425A>G (p.Gln475=)	MYOT, PKD2L2-DT	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 3	GLikely benign
Select item 2627978	NM_006790.3(MYOT):c.167C>T (p.Ser56Leu)	MYOT, PKD2L2-DT (S56L)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 2498054	NM_006790.3(MYOT):c.1363C>T (p.Arg455Trp)	PKD2L2-DT, MYOT (R271W +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3 +1 more	GUncertain significance
Select item 2433995	NM_006790.3(MYOT):c.563G>A (p.Arg188Lys)	MYOT, PKD2L2-DT (R188K +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3	GUncertain significance
Select item 2433994	NM_006790.3(MYOT):c.225G>C (p.Gln75His)	MYOT, PKD2L2-DT (Q75H)	Single nucleotide variant (missense variant +2 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 2433993	NM_006790.3(MYOT):c.775A>G (p.Met259Val)	MYOT, PKD2L2-DT (M144V +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3	GUncertain significance
Select item 2433992	NM_006790.3(MYOT):c.280G>A (p.Ala94Thr)	MYOT, PKD2L2-DT (A94T)	Single nucleotide variant (5 prime UTR variant +2 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 2433989	NM_006790.3(MYOT):c.392C>T (p.Ala131Val)	MYOT, PKD2L2-DT (A131V +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 2433988	NM_006790.3(MYOT):c.1084G>A (p.Glu362Lys)	MYOT, PKD2L2-DT (E178K +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3	GUncertain significance
Select item 2433987	NM_006790.3(MYOT):c.409G>A (p.Ala137Thr)	MYOT, PKD2L2-DT (A137T +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 2433986	NM_006790.3(MYOT):c.556G>T (p.Ala186Ser)	MYOT, PKD2L2-DT (A186S +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3	GUncertain significance
Select item 2433985	NM_006790.3(MYOT):c.170del (p.Thr57fs)	MYOT, PKD2L2-DT (T57fs)	Deletion (frameshift variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 2433983	NM_006790.3(MYOT):c.1234G>C (p.Asp412His)	MYOT, PKD2L2-DT (D228H +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3	GUncertain significance
Select item 2433982	NM_006790.3(MYOT):c.508A>C (p.Thr170Pro)	MYOT, PKD2L2-DT (T170P +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 2420968	NM_006790.3(MYOT):c.1325-1G>A	MYOT, PKD2L2-DT	Single nucleotide variant (splice acceptor variant)	Myofibrillar myopathy 3	GUncertain significance
Select item 2300633	NM_006790.3(MYOT):c.1378T>C (p.Phe460Leu)	MYOT, PKD2L2-DT (F276L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2201644	NM_006790.3(MYOT):c.1454G>A (p.Arg485His)	MYOT, PKD2L2-DT (R301H +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3	GUncertain significance
Select item 2199001	NM_006790.3(MYOT):c.1366G>A (p.Val456Ile)	MYOT, PKD2L2-DT (V341I +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3	GUncertain significance
Select item 2198603	NM_006790.3(MYOT):c.983G>A (p.Arg328Lys)	MYOT, PKD2L2-DT (R328K +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3	GUncertain significance
Select item 2189795	NM_006790.3(MYOT):c.1041A>G (p.Arg347=)	MYOT, PKD2L2-DT	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 3	GLikely benign
Select item 2167725	NM_006790.3(MYOT):c.1118C>T (p.Ser373Leu)	MYOT, PKD2L2-DT (S189L +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3	GUncertain significance
Select item 2156349	NM_006790.3(MYOT):c.866C>G (p.Thr289Arg)	MYOT, PKD2L2-DT (T105R +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3	GUncertain significance
Select item 2153910	NM_006790.3(MYOT):c.118A>G (p.Ile40Val)	MYOT, PKD2L2-DT (I40V)	Single nucleotide variant (intron variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 2152659	NM_006790.3(MYOT):c.1294A>T (p.Thr432Ser)	MYOT, PKD2L2-DT (T317S +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2150491	NM_006790.3(MYOT):c.364C>T (p.Gln122Ter)	MYOT, PKD2L2-DT (Q7* +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 2141282	NM_006790.3(MYOT):c.1113G>C (p.Gln371His)	MYOT, PKD2L2-DT (Q187H +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3	GUncertain significance
Select item 2139441	NM_006790.3(MYOT):c.683+8A>T	PKD2L2-DT, MYOT	Single nucleotide variant (intron variant)	Myofibrillar myopathy 3	GLikely benign
Select item 2128688	NM_006790.3(MYOT):c.667C>T (p.Pro223Ser)	MYOT, PKD2L2-DT (P108S +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3	GUncertain significance
Select item 2127450	NM_006790.3(MYOT):c.709G>A (p.Val237Met)	MYOT, PKD2L2-DT (V237M +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3	GUncertain significance
Select item 2126734	NM_006790.3(MYOT):c.1439_1441del (p.Glu480del)	PKD2L2-DT, MYOT (E480del +2 more)	Deletion (inframe_deletion)	Myofibrillar myopathy 3	GUncertain significance
Select item 2124319	NM_006790.3(MYOT):c.1417dup (p.Val473fs)	MYOT, PKD2L2-DT (V289fs +2 more)	Duplication (frameshift variant)	Myofibrillar myopathy 3	GUncertain significance
Select item 2115146	NM_006790.3(MYOT):c.884T>G (p.Leu295Trp)	MYOT, PKD2L2-DT (L180W +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3	GUncertain significance
Select item 2113405	NM_006790.3(MYOT):c.1175A>G (p.Asn392Ser)	MYOT, PKD2L2-DT (N208S +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3	GUncertain significance
Select item 2103106	NM_006790.3(MYOT):c.53G>T (p.Gly18Val)	MYOT, PKD2L2-DT (G18V)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 2102639	NM_006790.3(MYOT):c.318T>A (p.Asp106Glu)	MYOT, PKD2L2-DT (D106E)	Single nucleotide variant (5 prime UTR variant +2 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 2100162	NM_006790.3(MYOT):c.1006G>C (p.Val336Leu)	MYOT, PKD2L2-DT (V152L +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3	GUncertain significance
Select item 2100161	NM_006790.3(MYOT):c.972T>A (p.Val324=)	MYOT, PKD2L2-DT	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 3	GLikely benign
Select item 2094657	NM_006790.3(MYOT):c.49T>A (p.Cys17Ser)	MYOT, PKD2L2-DT (C17S)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 2092959	NM_006790.3(MYOT):c.156T>C (p.Phe52=)	MYOT, PKD2L2-DT	Single nucleotide variant (synonymous variant +1 more)	Myofibrillar myopathy 3	GLikely benign
Select item 2092060	NM_006790.3(MYOT):c.1190+18A>G	MYOT, PKD2L2-DT	Single nucleotide variant (intron variant)	Myofibrillar myopathy 3	GLikely benign
Select item 2088399	NM_006790.3(MYOT):c.469T>C (p.Leu157=)	MYOT, PKD2L2-DT	Single nucleotide variant (5 prime UTR variant +1 more)	Myofibrillar myopathy 3	GLikely benign
Select item 2085360	NM_006790.3(MYOT):c.1167A>G (p.Val389=)	MYOT, PKD2L2-DT	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 3	GLikely benign
Select item 2082671	NM_006790.3(MYOT):c.690A>G (p.Arg230=)	MYOT, PKD2L2-DT	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 3	GLikely benign
Select item 2070817	NC_000005.10:g.137881974_137881979del	MYOT, PKD2L2-DT	Deletion	Myofibrillar myopathy 3	GUncertain significance
Select item 2066281	NM_006790.3(MYOT):c.935T>C (p.Val312Ala)	MYOT, PKD2L2-DT (V197A +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 3	GUncertain significance
Select item 2059499	NM_006790.3(MYOT):c.16C>T (p.Arg6Cys)	MYOT, PKD2L2-DT (R6C)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 3	GUncertain significance

<< First< Prev

Page of 4