TOM1L1[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 59590	GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1	ABCC3, ACSF2 +196 more	Copy number loss	See cases	GPathogenic
Select item 146590	GRCh38/hg38 17q22(chr17:54504880-54964104)x3	COX11, LOC129390891 +5 more	Copy number gain	See cases	GBenign
Select item 3181118	NM_005486.3(TOM1L1):c.5C>T (p.Ala2Val)	TOM1L1 (A2V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526701	NM_005486.3(TOM1L1):c.19C>T (p.His7Tyr)	TOM1L1 (H7Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467096	NM_005486.3(TOM1L1):c.22C>T (p.Arg8Trp)	TOM1L1 (R8W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322823	NM_005486.3(TOM1L1):c.108G>A (p.Met36Ile)	TOM1L1 (M36I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2411718	NM_005486.3(TOM1L1):c.234G>C (p.Met78Ile)	TOM1L1 (M78I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615213	NM_005486.3(TOM1L1):c.295G>A (p.Glu99Lys)	TOM1L1 (E22K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494902	NM_005486.3(TOM1L1):c.357C>G (p.Ile119Met)	TOM1L1 (I42M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388212	NM_005486.3(TOM1L1):c.510C>G (p.Ile170Met)	TOM1L1 (I93M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181117	NM_005486.3(TOM1L1):c.578C>T (p.Ser193Leu)	TOM1L1 (S116L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404869	NM_005486.3(TOM1L1):c.650G>A (p.Arg217Gln)	TOM1L1 (R217Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325309	NM_005486.3(TOM1L1):c.661G>A (p.Ala221Thr)	TOM1L1 (A144T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510271	NM_005486.3(TOM1L1):c.740G>A (p.Arg247Gln)	TOM1L1 (R170Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410392	NM_005486.3(TOM1L1):c.973C>T (p.Arg325Trp)	TOM1L1 (R248W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2565277	NM_005486.3(TOM1L1):c.974G>A (p.Arg325Gln)	TOM1L1 (R325Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224914	NM_005486.3(TOM1L1):c.989C>T (p.Thr330Ile)	TOM1L1 (T253I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513927	NM_005486.3(TOM1L1):c.998A>T (p.Glu333Val)	TOM1L1 (E256V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181113	NM_005486.3(TOM1L1):c.1066A>C (p.Asn356His)	TOM1L1 (N279H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544656	NM_005486.3(TOM1L1):c.1076C>T (p.Pro359Leu)	TOM1L1 (P282L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401036	NM_005486.3(TOM1L1):c.1171G>A (p.Ala391Thr)	TOM1L1 (A391T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3181114	NM_005486.3(TOM1L1):c.1181A>G (p.Asn394Ser)	TOM1L1 (N317S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2360808	NM_005486.3(TOM1L1):c.1240G>C (p.Ala414Pro)	TOM1L1 (A414P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236013	NM_005486.3(TOM1L1):c.1333A>G (p.Met445Val)	TOM1L1 (M368V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181116	NM_005486.3(TOM1L1):c.1388T>C (p.Ile463Thr)	COX11, TOM1L1 (I386T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684852	GRCh37/hg19 17q22(chr17:52678606-53155682)x3	COX11, STXBP4 +1 more	Copy number gain	not provided	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 394267	GRCh37/hg19 17q22(chr17:52189051-57477162)x3	AKAP1, ANKFN1 +42 more	Copy number gain	See cases	GPathogenic
Select item 394158	GRCh37/hg19 17q21.33-23.2(chr17:49076980-58740945)x3	AKAP1, ANKFN1 +65 more	Copy number gain	See cases	GPathogenic

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Items: 33