"Neuromuscular Research, Maastricht University Medical Centre"[submitt - ClinVar

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

Search results

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 810848	NM_004409.5(DMPK):c.*224CTG[32]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GConflicting classifications of pathogenicity
Select item 810828	NM_004409.5(DMPK):c.*224CTG[330]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810827	NM_004409.5(DMPK):c.*224CTG[25]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GBenign
Select item 810826	NM_004409.5(DMPK):c.*224CTG[230]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810825	NM_004409.5(DMPK):c.*224CTG[280]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810822	NM_004409.5(DMPK):c.*224CTG[36]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810821	NM_004409.5(DMPK):c.*224CTG[58]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810820	NM_004409.5(DMPK):c.*224CTG[42]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810819	NM_004409.5(DMPK):c.*224CTG[37]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810818	NM_004409.5(DMPK):c.*224CTG[45]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810817	NM_004409.5(DMPK):c.*224CTG[61]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810816	NM_004409.5(DMPK):c.*224CTG[57]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810815	NM_004409.5(DMPK):c.*224CTG[130]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810814	NM_004409.5(DMPK):c.*224CTG[73]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810813	NM_004409.5(DMPK):c.*224CTG[49]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810812	NM_004409.5(DMPK):c.*224CTG[33]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810811	NM_004409.5(DMPK):c.*224CTG[29]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GBenign
Select item 810810	NM_004409.5(DMPK):c.*224CTG[23]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GBenign
Select item 810808	NM_004409.5(DMPK):c.*224CTG[86]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810807	NM_004409.5(DMPK):c.*224CTG[100]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810806	NM_004409.5(DMPK):c.*224CTG[55]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810805	NM_004409.5(DMPK):c.*224CTG[21]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GBenign
Select item 810804	NM_004409.5(DMPK):c.*224CTG[30]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GBenign
Select item 810803	NM_004409.5(DMPK):c.*224CTG[22]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome +1 more	GBenign
Select item 810802	NM_004409.5(DMPK):c.*224CTG[51]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810801	NM_004409.5(DMPK):c.*224CTG[43]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810800	NM_004409.5(DMPK):c.*224CTG[40]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810799	NM_004409.5(DMPK):c.*224CTG[34]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810798	NM_004409.5(DMPK):c.*224CTG[27]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GBenign
Select item 810797	NM_004409.5(DMPK):c.*224CTG[28]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GBenign
Select item 810796	NM_004409.5(DMPK):c.*224CTG[47]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810795	NM_004409.5(DMPK):c.*224CTG[31]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810793	NM_004409.5(DMPK):c.*224CTG[35]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810792	NM_004409.5(DMPK):c.*224CTG[44]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810791	NM_004409.5(DMPK):c.*224CTG[39]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810790	NM_004409.5(DMPK):c.*224CTG[41]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810789	NM_004409.5(DMPK):c.*224CTG[24]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GBenign
Select item 810788	NM_004409.5(DMPK):c.*224CTG[117]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810787	NM_004409.5(DMPK):c.*224CTG[180]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810786	NM_004409.5(DMPK):c.*224CTG[38]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188040	NM_004409.5(DMPK):c.*224CTG[92]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188031	NM_004409.5(DMPK):c.*224CTG[80]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188027	NM_004409.5(DMPK):c.*224CTG[75]	DM1-AS, LOC107075317 +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188024	NM_004409.5(DMPK):c.*224CTG[72]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188023	NM_004409.5(DMPK):c.*224CTG[71]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188022	NM_004409.5(DMPK):c.*224CTG[69]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188018	NM_004409.5(DMPK):c.*224CTG[65]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188016	NM_004409.5(DMPK):c.*224CTG[64]	DM1-AS, LOC107075317 +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188012	NM_004409.5(DMPK):c.*224CTG[60]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188009	NM_004409.5(DMPK):c.*224CTG[59]	LOC109461477, DM1-AS +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188004	NM_004409.5(DMPK):c.*224CTG[56]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188001	NM_004409.5(DMPK):c.*224CTG[54]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 187998	NM_004409.5(DMPK):c.*224CTG[53]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 187997	NM_004409.5(DMPK):c.*224CTG[52]	DM1-AS, LOC107075317 +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 187987	NM_004409.5(DMPK):c.*224CTG[46]	LOC107075317, LOC109461477 +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 187946	NM_004409.5(DMPK):c.*224CTG[255]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 187908	NM_004409.5(DMPK):c.*224CTG[103]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810824	NM_004409.5(DMPK):c.*224CTG[17]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GBenign
Select item 810823	NM_004409.5(DMPK):c.*224CTG[1]	DM1-AS, DMPK +3 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GBenign
Select item 810794	NM_004409.5(DMPK):c.224_283=	DM1-AS, DMPK +3 more	Microsatellite (no sequence alteration)	Steinert myotonic dystrophy syndrome	GBenign
Select item 810785	NM_004409.5(DMPK):c.*224CTG[19]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 61