ClinVar for Gene (Select 26520) - ClinVar

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Links from Gene

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3177564	NM_012460.4(TIMM9):c.200T>G (p.Phe67Cys)	TIMM9, TOMM20L (F67C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2685487	GRCh37/hg19 14q22.3-23.2(chr14:55667390-64447598)x1	HIF1A, HIF1A-AS2 +47 more	Copy number loss	not provided	GPathogenic
Select item 2684726	GRCh37/hg19 14q22.3-24.1(chr14:57588965-68334517)x3	ACTR10, AKAP5 +71 more	Copy number gain	not provided	GLikely pathogenic
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 2605073	NM_207377.3(TOMM20L):c.451C>A (p.Pro151Thr)	TIMM9, TOMM20L (P151T)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2578725	GRCh37/hg19 14q22.3-23.1(chr14:57675327-59806898)x1	DAAM1, ACTR10 +12 more	Copy number loss	not provided	GUncertain significance
Select item 1809007	GRCh37/hg19 14q23.1(chr14:58833909-59109480)x3	ARID4A, DACT1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1807640	GRCh37/hg19 14q22.3-23.2(chr14:57804997-63590203)x1	ACTR10, ARID4A +32 more	Copy number loss	not provided	GLikely pathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1458692	NC_000014.8:g.(?_58711639)_(59014694_?)del	ARID4A, KIAA0586 +3 more	Deletion	Joubert syndrome 23 +1 more	GPathogenic
Select item 1283831	NC_000014.9:g.58427095G>C	KIAA0586, TIMM9	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1279463	NC_000014.9:g.58427073T>G	KIAA0586, TIMM9	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	ISCA2, TMEM30B +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 815660	GRCh37/hg19 14q22.3-23.1(chr14:56605398-59404256)x1	ACTR10, AP5M1 +14 more	Copy number loss	not provided	GPathogenic
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 369985	GRCh37/hg19 14q23.1(chr14:58737402-58891576)x1	TOMM20L, ARID4A +2 more	Copy number loss	Thyroid hemiagenesis	GLikely pathogenic
Select item 369984	GRCh37/hg19 14q23.1(chr14:58737402-58884615)x1	TOMM20L, ARID4A +2 more	Copy number loss	Thyroid hemiagenesis	GLikely pathogenic
Select item 155360	GRCh38/hg38 14q23.1(chr14:58288658-58509423)x1	ARID4A, KIAA0586 +12 more	Copy number loss	See cases	GUncertain significance
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 149300	GRCh38/hg38 14q23.1-23.2(chr14:57653413-64093528)x1	ACTR10, ARID4A +202 more	Copy number loss	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57782	GRCh38/hg38 14q23.1(chr14:58146022-61273619)x1	ACTR10, ARID4A +113 more	Copy number loss	See cases	GPathogenic
Select item 57781	GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1	ACTR10, AKAP5 +344 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 24