TIMM9[gene] - ClinVar

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

Search results

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	ABCD4, ABHD12B +3281 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	ABCD4, ABHD12B +3276 more	Copy number gain	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
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 57782	GRCh38/hg38 14q23.1(chr14:58146022-61273619)x1	ACTR10, ARID4A +113 more	Copy number loss	See cases	GPathogenic
Select item 155360	GRCh38/hg38 14q23.1(chr14:58288658-58509423)x1	ARID4A, KIAA0586 +12 more	Copy number loss	See cases	GUncertain significance
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 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 1279463	NM_012460.4(TIMM9):c.-134A>C	KIAA0586, TIMM9	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1283831	NM_012460.4(TIMM9):c.-156C>G	KIAA0586, TIMM9	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
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 2578725	GRCh37/hg19 14q22.3-23.1(chr14:57675327-59806898)x1	ACTR10, AP5M1 +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	TIMM9, TOMM20L +3 more	Deletion	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GPathogenic
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

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: 24