ClinVar for MedGen (Select 811544) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 1000

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338437	GRCh37/hg19 10q21.3(chr10:69933771-69935269)x0	MYPN	Copy number loss	Dilated cardiomyopathy 1KK	GLikely pathogenic
Select item 3298126	NM_032578.4(MYPN):c.3008C>T (p.Ser1003Phe)	MYPN (S1003F +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3244921	NC_000010.10:g.(?_69902677)_(69908244_?)dup	MYPN	Duplication	Dilated cardiomyopathy 1KK	GLikely pathogenic
Select item 3235698	NM_032578.4(MYPN):c.3467C>A (p.Ser1156Tyr)	MYPN (S1156Y +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1KK	GUncertain significance
Select item 3066120	NM_032578.4(MYPN):c.826C>T (p.Arg276Trp)	MYPN (R276W)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1KK	GUncertain significance
Select item 3019886	NM_032578.4(MYPN):c.3660-1G>A	MYPN	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1KK	GLikely pathogenic
Select item 3018457	NM_032578.4(MYPN):c.1371A>G (p.Arg457=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 3015192	NM_032578.4(MYPN):c.3794-19T>C	MYPN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 3015081	NM_032578.4(MYPN):c.396C>T (p.Pro132=)	MYPN	Single nucleotide variant (synonymous variant +2 more)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 3012737	NM_032578.4(MYPN):c.1924C>T (p.Pro642Ser)	MYPN (P642S +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1KK	GUncertain significance
Select item 3000381	NM_032578.4(MYPN):c.2190G>T (p.Thr730=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2999844	NM_032578.4(MYPN):c.3794-1G>A	MYPN	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1KK	GUncertain significance
Select item 2985336	NM_032578.4(MYPN):c.1204C>T (p.Gln402Ter)	MYPN (Q402* +1 more)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1KK	GPathogenic
Select item 2982264	NM_032578.4(MYPN):c.3936G>A (p.Arg1312=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2981518	NM_032578.4(MYPN):c.3286-18T>C	MYPN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2976998	NM_032578.4(MYPN):c.195C>T (p.Ala65=)	MYPN	Single nucleotide variant (synonymous variant +2 more)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2975470	NM_032578.4(MYPN):c.1308G>A (p.Val436=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2975066	NM_032578.4(MYPN):c.3054C>T (p.Thr1018=)	LOC132089829, MYPN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2970066	NM_032578.4(MYPN):c.768T>A (p.Pro256=)	MYPN	Single nucleotide variant (synonymous variant +2 more)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2968830	NM_032578.4(MYPN):c.2871A>C (p.Thr957=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2968200	NM_032578.4(MYPN):c.2427C>T (p.Pro809=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2963963	NM_032578.4(MYPN):c.3493+9T>G	MYPN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2918807	NM_032578.4(MYPN):c.3813C>T (p.Ile1271=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2917215	NM_032578.4(MYPN):c.78T>C (p.His26=)	MYPN	Single nucleotide variant (synonymous variant +2 more)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2909089	NM_032578.4(MYPN):c.3158+18_3158+19del	MYPN	Deletion (intron variant)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2907163	NM_032578.4(MYPN):c.2251C>T (p.Pro751Ser)	MYPN (P751S +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1KK	GUncertain significance
Select item 2905527	NM_032578.4(MYPN):c.3494-15C>T	MYPN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2900817	NM_032578.4(MYPN):c.1266C>T (p.Tyr422=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2900242	NM_032578.4(MYPN):c.3960T>G (p.Leu1320=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2891428	NM_032578.4(MYPN):c.903-13del	MYPN	Deletion (intron variant)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2888914	NM_032578.4(MYPN):c.3076-4T>A	MYPN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2885763	NM_032578.4(MYPN):c.1346G>T (p.Gly449Val)	MYPN (G449V +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1KK	GUncertain significance
Select item 2882604	NM_032578.4(MYPN):c.1053G>A (p.Ser351=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2881546	NM_032578.4(MYPN):c.1650C>T (p.Thr550=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2867273	NM_032578.4(MYPN):c.2565-19G>C	MYPN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2867107	NM_032578.4(MYPN):c.3267C>T (p.Leu1089=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2851735	NM_032578.4(MYPN):c.1079-17T>C	MYPN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2850627	NM_032578.4(MYPN):c.1305T>G (p.Pro435=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2844445	NM_032578.4(MYPN):c.3158+9A>T	MYPN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2842201	NM_032578.4(MYPN):c.687A>G (p.Glu229=)	MYPN	Single nucleotide variant (synonymous variant +2 more)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2837871	NM_032578.4(MYPN):c.3048C>T (p.Asn1016=)	LOC132089829, MYPN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2827413	NM_032578.4(MYPN):c.1776C>T (p.Ser592=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2826234	NM_032578.4(MYPN):c.1170C>T (p.Thr390=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2823279	NM_032578.4(MYPN):c.237A>G (p.Ala79=)	MYPN	Single nucleotide variant (synonymous variant +2 more)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2817703	NM_032578.4(MYPN):c.3859C>G (p.Leu1287Val)	MYPN (L993V +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1KK	GUncertain significance
Select item 2817702	NM_032578.4(MYPN):c.1292T>C (p.Ile431Thr)	MYPN (I431T +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1KK	GUncertain significance
Select item 2816588	NM_032578.4(MYPN):c.2815A>G (p.Thr939Ala)	MYPN (T939A +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1KK	GUncertain significance
Select item 2814862	NM_032578.4(MYPN):c.807C>T (p.Pro269=)	MYPN	Single nucleotide variant (synonymous variant +2 more)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2812657	NM_032578.4(MYPN):c.3659+13C>T	MYPN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2812287	NM_032578.4(MYPN):c.903-15T>C	MYPN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2809474	NM_032578.4(MYPN):c.3244_3245dup (p.Met1082fs)	MYPN (M1082fs +1 more)	Microsatellite (frameshift variant +1 more)	Dilated cardiomyopathy 1KK	GPathogenic
Select item 2801691	NM_032578.4(MYPN):c.3765G>A (p.Val1255=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2798797	NM_032578.4(MYPN):c.1078+17T>G	MYPN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2796914	NM_032578.4(MYPN):c.1317+17T>C	MYPN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2795512	NM_032578.4(MYPN):c.902+12_902+26del	MYPN	Deletion (intron variant)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2791981	NM_032578.4(MYPN):c.2025C>T (p.His675=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2768460	NM_032578.4(MYPN):c.100C>A (p.Arg34=)	MYPN	Single nucleotide variant (synonymous variant +2 more)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2763276	NM_032578.4(MYPN):c.2442A>T (p.Pro814=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2760763	NM_032578.4(MYPN):c.3327_3328del (p.Asn1109fs)	MYPN (N815fs +1 more)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 1KK	GPathogenic
Select item 2760686	NM_032578.4(MYPN):c.1600+18C>T	MYPN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2757269	NM_032578.4(MYPN):c.3879C>T (p.Asp1293=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2756794	NM_032578.4(MYPN):c.1317+17T>A	MYPN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2756706	NM_032578.4(MYPN):c.1714del (p.Gln572fs)	MYPN (Q278fs +1 more)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 1KK	GPathogenic
Select item 2751580	NM_032578.4(MYPN):c.1459+8_1459+11del	MYPN	Deletion (intron variant)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2732502	NM_032578.4(MYPN):c.1974-20C>T	MYPN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2728013	NM_032578.4(MYPN):c.2622T>C (p.Asp874=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2726659	NM_032578.4(MYPN):c.3793+8T>C	MYPN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2726484	NM_032578.4(MYPN):c.1600+12_1600+13del	MYPN	Deletion (intron variant)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2725210	NM_032578.4(MYPN):c.616C>A (p.Arg206=)	MYPN	Single nucleotide variant (synonymous variant +2 more)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2723595	NM_032578.4(MYPN):c.2084del (p.Val694_Leu695insTer)	MYPN	Deletion (nonsense +1 more)	Dilated cardiomyopathy 1KK	GPathogenic
Select item 2717997	NM_032578.4(MYPN):c.2802T>C (p.His934=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2712182	NM_032578.4(MYPN):c.3414G>A (p.Gln1138=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2708220	NM_032578.4(MYPN):c.2704-17G>C	MYPN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2705418	NM_032578.4(MYPN):c.3738G>A (p.Leu1246=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2702391	NM_032578.4(MYPN):c.2952G>A (p.Gln984=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2702094	NM_032578.4(MYPN):c.1416G>A (p.Gly472=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2700725	NM_032578.4(MYPN):c.486C>T (p.Ser162=)	MYPN	Single nucleotide variant (synonymous variant +2 more)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2693780	NM_032578.4(MYPN):c.3075+15T>C	LOC132089829, MYPN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2563966	NM_032578.4(MYPN):c.2409C>T (p.Ser803=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1KK +1 more	GLikely benign
Select item 2500062	NM_032578.4(MYPN):c.3158+6G>T	MYPN	Single nucleotide variant (intron variant)	MYPN-related myopathy +1 more	GUncertain significance
Select item 2449126	NM_032578.4(MYPN):c.2385A>G (p.Pro795=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1KK +1 more	GLikely benign
Select item 2427046	NC_000010.10:g.(?_69918241)_(69919957_?)dup	MYPN	Duplication	Dilated cardiomyopathy 1KK	GLikely pathogenic
Select item 2427045	NC_000010.10:g.(?_69909777)_(69909888_?)del	MYPN	Deletion	Dilated cardiomyopathy 1KK	GUncertain significance
Select item 2427044	NC_000010.10:g.(?_69961566)_(69961771_?)del	MYPN	Deletion	Dilated cardiomyopathy 1KK	GPathogenic
Select item 2201592	NM_032578.4(MYPN):c.1124T>C (p.Met375Thr)	MYPN (M375T +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2193660	NM_032578.4(MYPN):c.617G>A (p.Arg206Gln)	MYPN (R206Q)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1KK	GUncertain significance
Select item 2191314	NM_032578.4(MYPN):c.3704C>A (p.Pro1235Gln)	MYPN (P1235Q +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1KK	GUncertain significance
Select item 2190497	NM_032578.4(MYPN):c.1318-12T>A	MYPN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2186187	NM_032578.4(MYPN):c.2703+3A>T	MYPN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1KK	GUncertain significance
Select item 2182849	NM_032578.4(MYPN):c.3939T>G (p.Ser1313Arg)	MYPN (S1313R +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1KK	GUncertain significance
Select item 2180665	NM_032578.4(MYPN):c.3577T>A (p.Cys1193Ser)	MYPN (C1193S +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2177807	NM_032578.4(MYPN):c.1465C>T (p.Arg489Ter)	MYPN (R195* +1 more)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1KK +1 more	GPathogenic
Select item 2174233	NM_032578.4(MYPN):c.3867T>C (p.Ser1289=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2171594	NM_032578.4(MYPN):c.3207C>T (p.Arg1069=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2170954	NM_032578.4(MYPN):c.2799A>G (p.Gln933=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2170141	NM_032578.4(MYPN):c.2134G>T (p.Ala712Ser)	MYPN (A712S +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1KK	GUncertain significance
Select item 2168896	NM_032578.4(MYPN):c.682C>G (p.Leu228Val)	MYPN (L228V)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1KK	GUncertain significance
Select item 2165385	NM_032578.4(MYPN):c.158G>A (p.Gly53Glu)	MYPN (G53E)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1KK	GUncertain significance
Select item 2164151	NM_032578.4(MYPN):c.1161T>A (p.Pro387=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2162054	NM_032578.4(MYPN):c.3896C>T (p.Ser1299Phe)	MYPN (S1005F +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1KK	GUncertain significance

<< First< Prev

Page of 10