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Links from MedGen

Items: 1 to 100 of 957

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr6:112506473
GRCh38:
Chr6:112185271
LAMA4S341I, S348IDilated cardiomyopathy 1JJUncertain significance
(Jun 18, 2021)
criteria provided, single submitter
2.
GRCh37:
Chr6:112452170
GRCh38:
Chr6:112130968
LAMA4R1316K, R1323KDilated cardiomyopathy 1JJUncertain significance
(Apr 6, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr6:112508632-112508823
LAMA4Dilated cardiomyopathy 1JJUncertain significance
(Mar 11, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr6:112437151
GRCh38:
Chr6:112115948
LAMA4V1669G, V1676GDilated cardiomyopathy 1JJUncertain significance
(May 26, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr6:112462692
GRCh38:
Chr6:112141490
LAMA4, LOC126859766Y887F, Y894FDilated cardiomyopathy 1JJUncertain significance
(Sep 1, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr6:112499354
GRCh38:
Chr6:112178152
LAMA4E379D, E386DDilated cardiomyopathy 1JJUncertain significance
(Apr 18, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr6:112513072
GRCh38:
Chr6:112191870
LAMA4Dilated cardiomyopathy 1JJUncertain significance
(Apr 15, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr6:112440411
GRCh38:
Chr6:112119208
LAMA4G1583D, G1590DDilated cardiomyopathy 1JJUncertain significance
(Jun 28, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr6:112450189
GRCh38:
Chr6:112128987
LAMA4P1401S, P1408SDilated cardiomyopathy 1JJUncertain significance
(Mar 1, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr6:112499447
GRCh38:
Chr6:112178245
LAMA4Dilated cardiomyopathy 1JJUncertain significance
(Apr 8, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr6:112460426
GRCh38:
Chr6:112139224
LAMA4V1053L, V1060LDilated cardiomyopathy 1JJUncertain significance
(Aug 22, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr6:112460332
GRCh38:
Chr6:112139130
LAMA4M1091T, M1084TDilated cardiomyopathy 1JJUncertain significance
(Dec 17, 2021)
criteria provided, single submitter
13.
GRCh37:
Chr6:112510384
GRCh38:
Chr6:112189182
LAMA4C248RDilated cardiomyopathy 1JJUncertain significance
(Jan 2, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr6:112537690
GRCh38:
Chr6:112216489
LAMA4Dilated cardiomyopathy 1JJLikely benign
(Feb 22, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr6:112476094
GRCh38:
Chr6:112154892
LAMA4L665P, L672PDilated cardiomyopathy 1JJUncertain significance
(May 28, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr6:112493806
GRCh38:
Chr6:112172604
LAMA4Dilated cardiomyopathy 1JJUncertain significance
(Aug 3, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr6:112537685
GRCh38:
Chr6:112216484
LAMA4Dilated cardiomyopathy 1JJLikely benign
(Feb 24, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr6:112510370
GRCh38:
Chr6:112189168
LAMA4Dilated cardiomyopathy 1JJLikely benign
(Aug 23, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr6:112454678
GRCh38:
Chr6:112133476
LAMA4A1183E, A1190EDilated cardiomyopathy 1JJUncertain significance
(Sep 13, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr6:112460430
GRCh38:
Chr6:112139228
LAMA4Dilated cardiomyopathy 1JJLikely benign
(Dec 29, 2021)
criteria provided, single submitter
21.
GRCh37:
Chr6:112479926
GRCh38:
Chr6:112158724
LAMA4Dilated cardiomyopathy 1JJLikely benign
(Mar 20, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr6:112435933
GRCh38:
Chr6:112114730
LAMA4Dilated cardiomyopathy 1JJLikely benign
(Jan 3, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr6:112450290
GRCh38:
Chr6:112129088
LAMA4Dilated cardiomyopathy 1JJLikely benign
(Jun 13, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr6:112466134
GRCh38:
Chr6:112144932
LAMA4Dilated cardiomyopathy 1JJUncertain significance
(May 31, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr6:112437112
GRCh38:
Chr6:112115909
LAMA4H1682L, H1689LDilated cardiomyopathy 1JJUncertain significance
(Dec 25, 2021)
criteria provided, single submitter
26.
GRCh37:
Chr6:112537560
GRCh38:
Chr6:112216359
LAMA4Dilated cardiomyopathy 1JJLikely benign
(Feb 1, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr6:112493996
GRCh38:
Chr6:112172794
LAMA4Dilated cardiomyopathy 1JJLikely benign
(Jul 30, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr6:112461008
GRCh38:
Chr6:112139806
LAMA4Y1012C, Y1019CDilated cardiomyopathy 1JJUncertain significance
(Jul 22, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr6:112537600
GRCh38:
Chr6:112216399
LAMA4N89SDilated cardiomyopathy 1JJUncertain significance
(May 6, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr6:112479974
GRCh38:
Chr6:112158772
LAMA4H593Y, H586YDilated cardiomyopathy 1JJLikely benign
(Apr 9, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr6:112440462
GRCh38:
Chr6:112119259
LAMA4R1573Q, R1566QCardiovascular phenotype, Dilated cardiomyopathy 1JJUncertain significance
(Feb 23, 2023)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr6:112441695
GRCh38:
Chr6:112120492
LAMA4Dilated cardiomyopathy 1JJLikely benign
(Dec 27, 2021)
criteria provided, single submitter
33.
GRCh37:
Chr6:112506519
GRCh38:
Chr6:112185317
LAMA4A326S, A333SDilated cardiomyopathy 1JJUncertain significance
(Jul 27, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr6:112508648
GRCh38:
Chr6:112187446
LAMA4Dilated cardiomyopathy 1JJUncertain significance
(Aug 20, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr6:112508688
GRCh38:
Chr6:112187486
LAMA4Dilated cardiomyopathy 1JJLikely benign
(Apr 25, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr6:112508810
GRCh38:
Chr6:112187608
LAMA4Dilated cardiomyopathy 1JJLikely benign
(Jun 27, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr6:112461099
GRCh38:
Chr6:112139897
LAMA4Dilated cardiomyopathy 1JJBenign
(Mar 30, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr6:112439012
GRCh38:
Chr6:112117809
LAMA4Dilated cardiomyopathy 1JJLikely benign
(Feb 19, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr6:112575230
GRCh38:
Chr6:112254028
LAMA4, LAMA4-AS1Dilated cardiomyopathy 1JJLikely benign
(Jul 20, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr6:112494013
GRCh38:
Chr6:112172811
LAMA4Dilated cardiomyopathy 1JJLikely benign
(Jun 3, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr6:112462544
GRCh38:
Chr6:112141342
LAMA4, LOC126859766Dilated cardiomyopathy 1JJLikely benign
(Apr 24, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr6:112471695
GRCh38:
Chr6:112150493
LAMA4Dilated cardiomyopathy 1JJLikely benign
(Apr 19, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr6:112508636
GRCh38:
Chr6:112187434
LAMA4Dilated cardiomyopathy 1JJLikely benign
(Mar 12, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr6:112461958
GRCh38:
Chr6:112140756
LAMA4Dilated cardiomyopathy 1JJUncertain significance
(May 3, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr6:112528344
GRCh38:
Chr6:112207143
LAMA4Dilated cardiomyopathy 1JJLikely benign
(Aug 20, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr6:112460424
GRCh38:
Chr6:112139222
LAMA4Dilated cardiomyopathy 1JJLikely benign
(Dec 17, 2021)
criteria provided, single submitter
47.
GRCh37:
Chr6:112522853
GRCh38:
Chr6:112201652
LAMA4Dilated cardiomyopathy 1JJLikely benign
(Oct 4, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr6:112460443
GRCh38:
Chr6:112139241
LAMA4G1047D, G1054DDilated cardiomyopathy 1JJUncertain significance
(May 3, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr6:112463388
GRCh38:
Chr6:112142186
LAMA4P860R, P867RDilated cardiomyopathy 1JJUncertain significance
(Jul 17, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr6:112438959
GRCh38:
Chr6:112117756
LAMA4G1648E, G1655EDilated cardiomyopathy 1JJLikely benign
(Aug 19, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr6:112496698
GRCh38:
Chr6:112175496
LAMA4Dilated cardiomyopathy 1JJLikely benign
(Mar 9, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr6:112457313
GRCh38:
Chr6:112136111
LAMA4Dilated cardiomyopathy 1JJLikely benign
(Feb 2, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr6:112496609
GRCh38:
Chr6:112175407
LAMA4Dilated cardiomyopathy 1JJLikely benign
(Aug 20, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr6:112506534
GRCh38:
Chr6:112185332
LAMA4R328G, R321GDilated cardiomyopathy 1JJUncertain significance
(Dec 18, 2021)
criteria provided, single submitter
55.
GRCh37:
Chr6:112462014
GRCh38:
Chr6:112140812
LAMA4L975P, L968PDilated cardiomyopathy 1JJUncertain significance
(Apr 1, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr6:112461957
GRCh38:
Chr6:112140755
LAMA4Dilated cardiomyopathy 1JJUncertain significance
(May 5, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr6:112435850
GRCh38:
Chr6:112114647
LAMA4Dilated cardiomyopathy 1JJLikely benign
(May 2, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr6:112465992
GRCh38:
Chr6:112144790
LAMA4Dilated cardiomyopathy 1JJUncertain significance
(Apr 16, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr6:112460942
GRCh38:
Chr6:112139740
LAMA4Dilated cardiomyopathy 1JJLikely benign
(Apr 12, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr6:112480098
GRCh38:
Chr6:112158896
LAMA4Dilated cardiomyopathy 1JJUncertain significance
(Apr 10, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr6:112454026
GRCh38:
Chr6:112132824
LAMA4D1248N, D1255NDilated cardiomyopathy 1JJUncertain significance
(Apr 18, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr6:112450158
GRCh38:
Chr6:112128956
LAMA4N1411S, N1418SDilated cardiomyopathy 1JJUncertain significance
(Apr 1, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr6:112451203
GRCh38:
Chr6:112130001
LAMA4Dilated cardiomyopathy 1JJLikely benign
(Mar 26, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr6:112528294
GRCh38:
Chr6:112207093
LAMA4Y117CDilated cardiomyopathy 1JJUncertain significance
(Mar 26, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr6:112457387
GRCh38:
Chr6:112136185
LAMA4G1111S, G1118SDilated cardiomyopathy 1JJUncertain significance
(Mar 26, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr6:112469506
GRCh38:
Chr6:112148304
LAMA4Dilated cardiomyopathy 1JJLikely benign
(Mar 18, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr6:112466131
GRCh38:
Chr6:112144929
LAMA4R779S, R786SDilated cardiomyopathy 1JJUncertain significance
(Mar 14, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr6:112454021
GRCh38:
Chr6:112132819
LAMA4Dilated cardiomyopathy 1JJLikely benign
(Feb 22, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr6:112430765-112430793
GRCh38:
Chr6:112109562-112109590
LAMA4Dilated cardiomyopathy 1JJUncertain significance
(Feb 18, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr6:112499335
GRCh38:
Chr6:112178133
LAMA4D393N, D386NDilated cardiomyopathy 1JJUncertain significance
(Feb 17, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr6:112435917
GRCh38:
Chr6:112114714
LAMA4S1712P, S1719PDilated cardiomyopathy 1JJUncertain significance
(Feb 8, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr6:112454022
GRCh38:
Chr6:112132820
LAMA4G1256D, G1249DDilated cardiomyopathy 1JJUncertain significance
(Feb 6, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr6:112441695
GRCh38:
Chr6:112120492
LAMA4Dilated cardiomyopathy 1JJLikely benign
(Apr 8, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr6:112463510
GRCh38:
Chr6:112142308
LAMA4Dilated cardiomyopathy 1JJLikely benign
(Apr 4, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr6:112452252
GRCh38:
Chr6:112131050
LAMA4K1289*, K1296*Dilated cardiomyopathy 1JJUncertain significance
(Jun 16, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr6:112575154
GRCh38:
Chr6:112253952
LAMA4-AS1, LAMA4Q67*Dilated cardiomyopathy 1JJUncertain significance
(Jan 11, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr6:112510368
GRCh38:
Chr6:112189166
LAMA4G253ADilated cardiomyopathy 1JJUncertain significance
(Jan 11, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr6:112454030
GRCh38:
Chr6:112132828
LAMA4F1246L, F1253LDilated cardiomyopathy 1JJUncertain significance
(Sep 29, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr6:112528276
GRCh38:
Chr6:112207075
LAMA4R123KDilated cardiomyopathy 1JJUncertain significance
(Aug 22, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr6:112450157
GRCh38:
Chr6:112128955
LAMA4N1411K, N1418KDilated cardiomyopathy 1JJ, Cardiovascular phenotypeUncertain significance
(Feb 16, 2023)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr6:112437117
GRCh38:
Chr6:112115914
LAMA4Dilated cardiomyopathy 1JJLikely benign
(May 9, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr6:112443274
GRCh38:
Chr6:112122071
LAMA4G1466A, G1473ADilated cardiomyopathy 1JJUncertain significance
(Sep 23, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr6:112460315
GRCh38:
Chr6:112139113
LAMA4Dilated cardiomyopathy 1JJLikely benign
(Jan 5, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr6:112461014
GRCh38:
Chr6:112139812
LAMA4S1017N, S1010NDilated cardiomyopathy 1JJUncertain significance
(Jan 1, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr6:112451102
GRCh38:
Chr6:112129900
LAMA4C1370F, C1363FDilated cardiomyopathy 1JJUncertain significance
(Sep 12, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr6:112461065
GRCh38:
Chr6:112139863
LAMA4P1000L, P993LDilated cardiomyopathy 1JJUncertain significance
(Mar 20, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr6:112493945
GRCh38:
Chr6:112172743
LAMA4Dilated cardiomyopathy 1JJLikely benign
(Dec 30, 2021)
criteria provided, single submitter
88.
GRCh37:
Chr6:112457365
GRCh38:
Chr6:112136163
LAMA4T1118M, T1125MDilated cardiomyopathy 1JJ, Cardiovascular phenotypeUncertain significance
(Mar 5, 2023)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr6:112462038
GRCh38:
Chr6:112140836
LAMA4, LOC126859766S960L, S967LDilated cardiomyopathy 1JJUncertain significance
(Dec 24, 2021)
criteria provided, single submitter
90.
GRCh37:
Chr6:112455662
GRCh38:
Chr6:112134460
LAMA4Dilated cardiomyopathy 1JJLikely benign
(Aug 16, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr6:112575348
GRCh38:
Chr6:112254146
LAMA4, LAMA4-AS1A2VDilated cardiomyopathy 1JJUncertain significance
(Jun 28, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr6:112435955
GRCh38:
Chr6:112114752
LAMA4I1699T, I1706TDilated cardiomyopathy 1JJ, Cardiovascular phenotypeUncertain significance
(Dec 4, 2022)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr6:112454078
GRCh38:
Chr6:112132876
LAMA4Cardiovascular phenotype, Dilated cardiomyopathy 1JJLikely benign
(Jan 5, 2023)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr6:112452162
GRCh38:
Chr6:112130960
LAMA4Dilated cardiomyopathy 1JJLikely benign
(Jul 30, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr6:112493820
GRCh38:
Chr6:112172618
LAMA4D508G, D515GDilated cardiomyopathy 1JJUncertain significance
(Mar 18, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr6:112522802
GRCh38:
Chr6:112201601
LAMA4Dilated cardiomyopathy 1JJLikely benign
(Sep 23, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr6:112438966
GRCh38:
Chr6:112117763
LAMA4T1653A, T1646ADilated cardiomyopathy 1JJUncertain significance
(Jan 14, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr6:112460465
GRCh38:
Chr6:112139263
LAMA4A1040S, A1047SDilated cardiomyopathy 1JJUncertain significance
(Dec 23, 2021)
criteria provided, single submitter
99.
GRCh37:
Chr6:112522789
GRCh38:
Chr6:112201588
LAMA4Dilated cardiomyopathy 1JJLikely benign
(Dec 21, 2021)
criteria provided, single submitter
100.
GRCh37:
Chr6:112522823
GRCh38:
Chr6:112201622
LAMA4Dilated cardiomyopathy 1JJLikely benign
(Dec 15, 2021)
criteria provided, single submitter
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