ClinVar for Gene (Select 406990) - ClinVar

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Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244007	NC_000014.8:g.(?_23855504)_(23876432_?)dup	MIR208A, MYH6	Duplication	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3243935	NC_000014.8:g.(?_23855117)_(23902941_?)dup	MIR208A, MIR208B +2 more	Duplication	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3243934	NC_000014.8:g.(?_23854105)_(23884499_?)del	MIR208A, MYH6 +1 more	Deletion	Hypertrophic cardiomyopathy	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 2424459	NC_000014.8:g.(?_23857696)_(23858733_?)del	MIR208A, MYH6	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	MRPL52, MYH6 +77 more	Duplication	Lysinuric protein intolerance +1 more	GUncertain significance
Select item 2422699	NC_000014.8:g.(?_23851249)_(23902941_?)dup	MIR208A, MIR208B +2 more	Duplication	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2422698	NC_000014.8:g.(?_23857344)_(23886547_?)del	MIR208A, MYH6 +1 more	Deletion	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	MDP1, METTL17 +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 1524291	NC_000014.8:g.(?_23855504)_(23885061_?)del	MIR208A, MYH6 +1 more	Deletion	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1014526	NC_000014.8:g.(?_23856728)_(23885531_?)dup	MIR208A, MYH6 +1 more	Duplication	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1014525	NC_000014.8:g.(?_23856957)_(23886537_?)del	MIR208A, MYH6 +1 more	Deletion	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 831471	NC_000014.9:g.(?_23388145)_(23417328_?)del	MIR208A, MYH6 +1 more	Deletion	Hypertrophic cardiomyopathy	GUncertain significance
Select item 831088	NC_000014.9:g.(?_23382030)_(23434247_?)dup	MIR208A, MIR208B +2 more	Duplication	Hypertrophic cardiomyopathy	GUncertain significance
Select item 830500	NC_000014.9:g.(?_23387519)_(23415842_?)dup	MIR208A, MYH6 +1 more	Duplication	Hypertrophic cardiomyopathy +1 more	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	SLC22A17, SLC7A7 +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 564100	GRCh37/hg19 14q11.2(chr14:23840034-24057640)x1	AP1G2, CMTM5 +9 more	Copy number loss	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	OR5AU1, OR6S1 +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 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC112268136, LOC112268140 +3283 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	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	ABCD4, ABHD12B +3278 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	LOC112214170, LOC112214171 +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: 36