TIMP2[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic
Select item 146403	GRCh38/hg38 17q25.3(chr17:78225356-80099979)x1	TIMP2, TMEM235 +144 more	Copy number loss	See cases	GLikely pathogenic
Select item 153374	GRCh38/hg38 17q25.3(chr17:78484862-79436025)x4	C1QTNF1, C1QTNF1-AS1 +55 more	Copy number gain	See cases	GUncertain significance
Select item 2218607	NM_003255.5(TIMP2):c.623C>T (p.Ala208Val)	TIMP2 (A208V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045371	NM_003255.5(TIMP2):c.618C>T (p.Gly206=)	TIMP2	Single nucleotide variant (synonymous variant)	TIMP2-related disorder	GLikely benign
Select item 3326196	NM_003255.5(TIMP2):c.613C>T (p.Arg205Cys)	TIMP2 (R205C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177577	NM_003255.5(TIMP2):c.574G>A (p.Ala192Thr)	TIMP2 (A192T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219702	NM_003255.5(TIMP2):c.518T>C (p.Leu173Pro)	TIMP2 (L173P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551285	NM_003255.5(TIMP2):c.446A>T (p.Gln149Leu)	TIMP2 (Q149L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458879	NM_003255.5(TIMP2):c.391G>A (p.Val131Met)	TIMP2 (V131M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177575	NM_003255.5(TIMP2):c.362A>G (p.Lys121Arg)	TIMP2 (K121R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462734	NM_003255.5(TIMP2):c.358G>A (p.Gly120Ser)	TIMP2 (G120S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293892	NM_003255.5(TIMP2):c.349G>A (p.Glu117Lys)	TIMP2 (E117K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059644	NM_003255.5(TIMP2):c.303G>A (p.Ser101=)	TIMP2	Single nucleotide variant (synonymous variant)	TIMP2-related disorder	GBenign
Select item 3033608	NM_003255.5(TIMP2):c.231+8T>C	TIMP2	Single nucleotide variant (intron variant)	TIMP2-related disorder	GBenign
Select item 3177574	NM_003255.5(TIMP2):c.193C>G (p.Pro65Ala)	TIMP2 (P65A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040620	NM_003255.5(TIMP2):c.147G>A (p.Ala49=)	TIMP2	Single nucleotide variant (synonymous variant)	TIMP2-related disorder	GLikely benign
Select item 2648382	NM_001243540.2(CEP295NL):c.267C>T (p.Gly89=)	CEP295NL, TIMP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	AATK, ACTG1 +387 more	Copy number gain	See cases	GPathogenic
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 2456633	NM_003255.5(TIMP2):c.67C>T (p.Pro23Ser)	TIMP2 (P23S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038074	NM_003255.5(TIMP2):c.36C>T (p.Leu12=)	TIMP2	Single nucleotide variant (synonymous variant)	TIMP2-related disorder	GBenign
Select item 3242941	NC_000017.10:g.(?_76109229)_(78367298_?)dup	AFMID, BIRC5 +29 more	Duplication	Idiopathic generalized epilepsy	GUncertain significance
Select item 2684858	GRCh37/hg19 17q25.3(chr17:76905755-77611113)x3	C1QTNF1, CANT1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2426801	NC_000017.10:g.(?_76851749)_(78367298_?)dup	C1QTNF1, CANT1 +16 more	Duplication	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	EVPL, EXOC7 +146 more	Copy number gain	not provided	GPathogenic
Select item 1526587	GRCh37/hg19 17q25.3(chr17:76770309-77174429)	C1QTNF1, CANT1 +6 more	Copy number gain	not specified	GUncertain significance
Select item 1340469	GRCh37/hg19 17q25.3(chr17:76852379-77297300)x3	C1QTNF1, CANT1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 980730	GRCh37/hg19 17q25.3(chr17:76852029-77297898)x3	C1QTNF1, CANT1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 815953	GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3	AANAT, ACOX1 +84 more	Copy number gain	not provided	GPathogenic
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 686455	GRCh37/hg19 17q25.3(chr17:76857398-77308782)x3	C1QTNF1, CANT1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 686443	GRCh37/hg19 17q25.3(chr17:76857398-77308782)x3	C1QTNF1, CANT1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 564477	GRCh37/hg19 17q25.3(chr17:76676371-77287185)x3	CANT1, CYTH1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 564476	GRCh37/hg19 17q25.3(chr17:76552611-81041938)x3	AATK, ACTG1 +88 more	Copy number gain	not provided	GLikely pathogenic
Select item 564475	GRCh37/hg19 17q25.3(chr17:76470653-77095130)x4	DNAH17, TIMP2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +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

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Items: 44