TIMM17A[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 144143	GRCh38/hg38 1q32.1(chr1:200144603-203112078)x1	LOC120893174, LOC122149340 +166 more	Copy number loss	See cases	GPathogenic
Select item 57818	GRCh38/hg38 1q32.1(chr1:201226425-202014204)x3	CSRP1, CSRP1-AS1 +49 more	Copy number gain	See cases	GUncertain significance
Select item 3177528	NM_006335.3(TIMM17A):c.21G>T (p.Glu7Asp)	LOC129932232, TIMM17A (E7D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230492	NM_006335.3(TIMM17A):c.35G>A (p.Arg12Gln)	TIMM17A (R12Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611040	NM_006335.3(TIMM17A):c.113G>A (p.Arg38His)	TIMM17A (R38H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569300	NM_006335.3(TIMM17A):c.175G>T (p.Ala59Ser)	TIMM17A (A59S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257795	NM_006335.3(TIMM17A):c.223A>G (p.Met75Val)	TIMM17A (M75V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530450	NM_006335.3(TIMM17A):c.334A>G (p.Met112Val)	TIMM17A (M112V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326178	NM_006335.3(TIMM17A):c.392T>C (p.Ile131Thr)	TIMM17A (I131T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236206	NM_006335.3(TIMM17A):c.428A>G (p.Asn143Ser)	TIMM17A (N143S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326179	NM_006335.3(TIMM17A):c.452C>G (p.Pro151Arg)	TIMM17A (P151R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246151	NM_006335.3(TIMM17A):c.488C>G (p.Pro163Arg)	TIMM17A (P163R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 3062955	GRCh37/hg19 1q32.1(chr1:199373229-204335027)x3	ADIPOR1, ADORA1 +58 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062655	GRCh37/hg19 1q31.3-32.1(chr1:197216705-203683110)x1	ADIPOR1, ADORA1 +57 more	Copy number loss	not specified	GLikely pathogenic
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	ADIPOR1, ADORA1 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	ADIPOR1, ADORA1 +110 more	Duplication	not provided	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CD34, MDM4 +145 more	Copy number gain	not provided	Gnot provided
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 565211	GRCh37/hg19 1q32.1(chr1:200873507-201947585)x3	ASCL5, CACNA1S +15 more	Copy number gain	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

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Items: 28