ClinVar for Gene (Select 387990) - ClinVar

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Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3328018	NM_207377.3(TOMM20L):c.288C>A (p.His96Gln)	TOMM20L (H96Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328017	NM_207377.3(TOMM20L):c.387A>T (p.Lys129Asn)	TOMM20L (K129N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328016	NM_207377.3(TOMM20L):c.266A>C (p.Glu89Ala)	TOMM20L (E89A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328015	NM_207377.3(TOMM20L):c.88A>G (p.Asn30Asp)	LOC130055732, TOMM20L (N30D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3181128	NM_207377.3(TOMM20L):c.66C>G (p.Phe22Leu)	LOC130055732, TOMM20L (F22L)	Single nucleotide variant (missense variant)	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 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	ACTR10, AP5M1 +12 more	Copy number loss	not provided	GUncertain significance
Select item 2529327	NM_207377.3(TOMM20L):c.196A>G (p.Lys66Glu)	TOMM20L (K66E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377472	NM_207377.3(TOMM20L):c.235C>T (p.Arg79Trp)	TOMM20L (R79W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367584	NM_207377.3(TOMM20L):c.104G>A (p.Gly35Glu)	LOC130055732, TOMM20L (G35E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341318	NM_207377.3(TOMM20L):c.313G>A (p.Glu105Lys)	TOMM20L (E105K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279652	NM_207377.3(TOMM20L):c.25C>G (p.Arg9Gly)	LOC130055732, TOMM20L (R9G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2278705	NM_207377.3(TOMM20L):c.143G>A (p.Arg48Lys)	TOMM20L (R48K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262989	NM_207377.3(TOMM20L):c.100C>G (p.Arg34Gly)	LOC130055732, TOMM20L (R34G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253450	NM_207377.3(TOMM20L):c.280A>T (p.Ile94Phe)	TOMM20L (I94F)	Single nucleotide variant (missense variant)	not specified	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	ABCD4, ABHD12B +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	AP5M1, EXOC5 +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)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ERG28, OR11G2 +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	LOC125048431, LOC125048432 +3280 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	FSCB, FUT8 +3275 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: 35