ClinVar for Gene (Select 100126336) - ClinVar

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Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3076072	NC_000014.9:g.(?_23412738)_(23420234_?)del	MIR208B, LOC126861897 +2 more	Deletion	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3063338	GRCh37/hg19 14q11.2(chr14:23864615-23897171)x3	MIR208B, MYH6 +1 more	Copy number gain	not specified	GUncertain significance
Select item 3063317	GRCh37/hg19 14q11.2(chr14:23851719-23906499)x3	MIR208A, MIR208B +2 more	Copy number gain	not specified	GUncertain significance
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2424460	NC_000014.8:g.(?_23863431)_(23894131_?)del	MIR208B, MYH6 +1 more	Deletion	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2424248	NC_000014.8:g.(?_23586696)_(23902941_?)del	BCL2L2, BCL2L2-PABPN1 +14 more	Deletion	Specific granule deficiency	GPathogenic
Select item 2423736	NC_000014.8:g.(?_23242819)_(25103366_?)dup	ACIN1, ADCY4 +77 more	Duplication	Lysinuric protein intolerance +1 more	GUncertain significance
Select item 2422699	NC_000014.8:g.(?_23851249)_(23902941_?)dup	MIR208B, MIR208A +2 more	Duplication	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2422697	NC_000014.8:g.(?_23861751)_(23888838_?)del	MIR208B, MYH6 +1 more	Deletion	Hypertrophic cardiomyopathy 14 +1 more	GUncertain significance
Select item 2422696	NC_000014.8:g.(?_23861751)_(23889463_?)del	MYH6, MYH7 +1 more	Deletion	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2422694	NC_000014.8:g.(?_23885193)_(23902941_?)dup	MIR208B, MYH7	Duplication	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 1527806	GRCh37/hg19 14q11.2(chr14:23864615-23897151)	MIR208B, MYH6 +1 more	Copy number loss	not specified	GUncertain significance
Select item 1374132	NC_000014.8:g.(?_23859246)_(23888838_?)dup	MIR208B, MYH6 +1 more	Duplication	Hypertrophic cardiomyopathy 14 +1 more	GUncertain significance
Select item 1372544	NC_000014.8:g.(?_23874427)_(23901842_?)del	MIR208B, MYH6 +1 more	Deletion	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1191347	NM_000257.4(MYH7):c.4169+148C>T	MIR208B, MYH7	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1060908	NC_000014.8:g.(?_23861761)_(23889453_?)del	MIR208B, MYH6 +1 more	Deletion	Hypertrophic cardiomyopathy 14 +1 more	GUncertain significance
Select item 1019946	NC_000014.9:g.(?_23392552)_(23419619_?)dup	MIR208B, MYH6 +1 more	Duplication	Hypertrophic cardiomyopathy	GUncertain significance
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 831948	NC_000014.9:g.(?_23390047)_(23420244_?)dup	MIR208B, MYH6 +1 more	Duplication	Hypertrophic cardiomyopathy	GUncertain significance
Select item 831393	NC_000014.9:g.(?_23412854)_(23420244_?)dup	MIR208B, MYH7	Duplication	Hypertrophic cardiomyopathy	GUncertain significance
Select item 831362	NC_000014.9:g.(?_23392552)_(23419619_?)del	MYH6, MIR208B +1 more	Deletion	Hypertrophic cardiomyopathy	GUncertain significance
Select item 831088	NC_000014.9:g.(?_23382030)_(23434247_?)dup	MIR208B, MYH6 +2 more	Duplication	Hypertrophic cardiomyopathy	GUncertain significance
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 666446	GRCh37/hg19 14q11.2(chr14:21717093-24027220)x3	NGDN, OR10G2 +47 more	Copy number gain	not provided	GLikely pathogenic
Select item 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	GPathogenic
Select item 583981	NC_000014.8:g.(?_23859246)_(23889463_?)dup	LOC114827851, LOC126861897 +4 more	Duplication	Hypertrophic cardiomyopathy	GUncertain significance
Select item 564100	GRCh37/hg19 14q11.2(chr14:23840034-24057640)x1	AP1G2, CMTM5 +9 more	Copy number loss	not provided	GUncertain significance
Select item 470501	NC_000014.8:g.(?_23861751)_(23889463_?)dup	MYH6, MHRT +4 more	Duplication	Hypertrophic cardiomyopathy 14 +1 more	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ACTN1, ACTR10 +635 more	Copy number gain	See cases	GPathogenic
Select item 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	CIDEB, MIR208A +164 more	Copy number gain	See cases	GPathogenic
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 more	Copy number gain	See cases	GPathogenic
Select item 253367	GRCh37/hg19 14q11.2(chr14:23859940-23889004)x1	MIR208B, MYH6 +1 more	Copy number loss	See cases	GLikely pathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	TRDC, TRDD1 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	ABHD4, ACIN1 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 58306	GRCh38/hg38 14q11.2(chr14:23260803-23763521)x3	AP1G2, AP1G2-AS1 +45 more	Copy number gain	See cases	GUncertain significance
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC130055370, LOC130055371 +840 more	Copy number loss	See cases	GPathogenic
Select item 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	ABHD4, ACIN1 +399 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 44