1760[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	PLA2G4C, PLA2G4C-AS1 +363 more	Copy number gain	See cases	GPathogenic
Select item 148766	GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1	CALM3, CCDC61 +190 more	Copy number loss	See cases	GLikely pathogenic
Select item 57097	GRCh38/hg38 19q13.32(chr19:45595873-46600026)x1	CCDC61, CCDC8 +115 more	Copy number loss	See cases	GPathogenic
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]	DMPK, LOC107075317 +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810827	NM_004409.5(DMPK):c.*224CTG[25]	DM1-AS, LOC107075317 +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GBenign
Select item 810826	NM_004409.5(DMPK):c.*224CTG[230]	DM1-AS, LOC107075317 +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810825	NM_004409.5(DMPK):c.*224CTG[280]	LOC109461477, 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]	LOC107075317, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810820	NM_004409.5(DMPK):c.*224CTG[42]	LOC107075317, DM1-AS +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810819	NM_004409.5(DMPK):c.*224CTG[37]	LOC107075317, LOC109461477 +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810818	NM_004409.5(DMPK):c.*224CTG[45]	DMPK, LOC107075317 +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810817	NM_004409.5(DMPK):c.*224CTG[61]	DM1-AS, LOC109461477 +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810816	NM_004409.5(DMPK):c.*224CTG[57]	LOC109461477, LOC107075317 +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810815	NM_004409.5(DMPK):c.*224CTG[130]	LOC107075317, DM1-AS +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810814	NM_004409.5(DMPK):c.*224CTG[73]	DM1-AS, LOC109461477 +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810813	NM_004409.5(DMPK):c.*224CTG[49]	DMPK, LOC107075317 +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]	DMPK, LOC109461477 +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GBenign
Select item 810810	NM_004409.5(DMPK):c.*224CTG[23]	DM1-AS, LOC109461477 +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GBenign
Select item 810808	NM_004409.5(DMPK):c.*224CTG[86]	DMPK, LOC109461477 +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810807	NM_004409.5(DMPK):c.*224CTG[100]	LOC109461477, DM1-AS +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810806	NM_004409.5(DMPK):c.*224CTG[55]	LOC107075317, 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, LOC109461477 +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GBenign
Select item 810804	NM_004409.5(DMPK):c.*224CTG[30]	DM1-AS, LOC109461477 +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]	LOC107075317, DM1-AS +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810801	NM_004409.5(DMPK):c.*224CTG[43]	DMPK, LOC109461477 +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810800	NM_004409.5(DMPK):c.*224CTG[40]	LOC107075317, DM1-AS +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810799	NM_004409.5(DMPK):c.*224CTG[34]	DM1-AS, LOC107075317 +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810798	NM_004409.5(DMPK):c.*224CTG[27]	LOC107075317, DM1-AS +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GBenign
Select item 810797	NM_004409.5(DMPK):c.*224CTG[28]	LOC109461477, LOC107075317 +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GBenign
Select item 810796	NM_004409.5(DMPK):c.*224CTG[47]	DMPK, LOC109461477 +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810795	NM_004409.5(DMPK):c.*224CTG[31]	DMPK, LOC107075317 +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810793	NM_004409.5(DMPK):c.*224CTG[35]	LOC109461477, 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, LOC109461477 +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 810791	NM_004409.5(DMPK):c.*224CTG[39]	LOC109461477, 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, LOC107075317 +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]	DMPK, LOC109461477 +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 623360	NM_004409.5(DMPK):c.*224CTG[110]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 523764	NM_004409.5(DMPK):c.*224CTG[496]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 523761	NM_004409.5(DMPK):c.*224CTG[90]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 523760	NM_004409.5(DMPK):c.*224CTG[288]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 523759	NM_004409.5(DMPK):c.*224CTG[105]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 523758	NM_004409.5(DMPK):c.*224CTG[383]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 523757	NM_004409.5(DMPK):c.*224CTG[597]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188043	NM_004409.5(DMPK):c.*224CTG[98]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188042	NM_004409.5(DMPK):c.*224CTG[96]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188041	NM_004409.5(DMPK):c.*224CTG[93]	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 188039	NM_004409.5(DMPK):c.*224CTG[887]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188038	NM_004409.5(DMPK):c.*224CTG[88]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188037	NM_004409.5(DMPK):c.*224CTG[84]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188036	NM_004409.5(DMPK):c.*224CTG[83]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188035	NM_004409.5(DMPK):c.*224CTG[823]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188034	NM_004409.5(DMPK):c.*224CTG[82]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188033	NM_004409.5(DMPK):c.*224CTG[816]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188032	NM_004409.5(DMPK):c.*224CTG[814]	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 188030	NM_004409.5(DMPK):c.*224CTG[780]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188029	NM_004409.5(DMPK):c.*224CTG[76]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188028	NM_004409.5(DMPK):c.*224CTG[758]	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, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188026	NM_004409.5(DMPK):c.*224CTG[74]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188025	NM_004409.5(DMPK):c.*224CTG[721]	DM1-AS, DMPK +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 188021	NM_004409.5(DMPK):c.*224CTG[688]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188020	NM_004409.5(DMPK):c.*224CTG[68]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188019	NM_004409.5(DMPK):c.*224CTG[666]	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 188017	NM_004409.5(DMPK):c.*224CTG[640]	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, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188015	NM_004409.5(DMPK):c.*224CTG[62]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188014	NM_004409.5(DMPK):c.*224CTG[614]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188013	NM_004409.5(DMPK):c.*224CTG[609]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188012	NM_004409.5(DMPK):c.*224CTG[60]	DMPK, LOC107075317 +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188011	NM_004409.5(DMPK):c.*224CTG[594]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188010	NM_004409.5(DMPK):c.*224CTG[593]	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]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188008	NM_004409.5(DMPK):c.*224CTG[586]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188007	NM_004409.5(DMPK):c.*224CTG[583]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188006	NM_004409.5(DMPK):c.*224CTG[563]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188005	NM_004409.5(DMPK):c.*224CTG[562]	DM1-AS, DMPK +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 188003	NM_004409.5(DMPK):c.*224CTG[542]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 188002	NM_004409.5(DMPK):c.*224CTG[541]	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 188000	NM_004409.5(DMPK):c.*224CTG[539]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 187999	NM_004409.5(DMPK):c.*224CTG[536]	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, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 187996	NM_004409.5(DMPK):c.*224CTG[513]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 187995	NM_004409.5(DMPK):c.*224CTG[508]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic
Select item 187994	NM_004409.5(DMPK):c.*224CTG[505]	DM1-AS, DMPK +2 more	Microsatellite (3 prime UTR variant)	Steinert myotonic dystrophy syndrome	GPathogenic

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