TEPSIN[gene] - ClinVar

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

Search results

Items: 35

	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 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 149717	GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3	AATK, ACTG1 +262 more	Copy number gain	See cases	GPathogenic
Select item 154635	GRCh38/hg38 17q25.3(chr17:81145383-81251829)x3	AATK, CEP131 +12 more	Copy number gain	See cases	GBenign
Select item 717518	NM_001363764.2(TEPSIN):c.1767G>A (p.Ala589=)	LOC105371925, TEPSIN	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2261744	NM_001363764.2(TEPSIN):c.1741C>G (p.Pro581Ala)	LOC105371925, TEPSIN (P581A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2239323	NM_001363764.2(TEPSIN):c.1687G>C (p.Asp563His)	LOC105371925, TEPSIN (D563H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2648443	NM_001363764.2(TEPSIN):c.1671G>A (p.Ala557=)	LOC105371925, TEPSIN	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2364907	NM_001363764.2(TEPSIN):c.1670C>T (p.Ala557Val)	LOC105371925, TEPSIN (A489V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 785587	NM_001363764.2(TEPSIN):c.1669G>A (p.Ala557Thr)	LOC105371925, TEPSIN (A557T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2254717	NM_001363764.2(TEPSIN):c.1583C>T (p.Pro528Leu)	LOC105371925, TEPSIN (P460L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 717519	NM_001363764.2(TEPSIN):c.1562C>A (p.Thr521Lys)	LOC105371925, TEPSIN (T521K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2206925	NM_001363764.2(TEPSIN):c.1409G>A (p.Arg470Gln)	LOC105371925, TEPSIN (R402Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2386398	NM_001363764.2(TEPSIN):c.1397C>T (p.Pro466Leu)	LOC105371925, TEPSIN (P466L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2210656	NM_001363764.2(TEPSIN):c.992G>A (p.Arg331His)	LOC105371925, TEPSIN (R263H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410737	NM_001363764.2(TEPSIN):c.887C>T (p.Pro296Leu)	LOC105371925, TEPSIN (P228L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2648444	NM_001363764.2(TEPSIN):c.840G>A (p.Ser280=)	LOC105371925, TEPSIN	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2385371	NM_001363764.2(TEPSIN):c.784G>A (p.Gly262Ser)	LOC105371925, TEPSIN (G194S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2648445	NM_001363764.2(TEPSIN):c.684C>T (p.Pro228=)	TEPSIN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2358330	NM_001363764.2(TEPSIN):c.361C>T (p.Arg121Cys)	TEPSIN (R121C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685609	GRCh37/hg19 17q25.3(chr17:79128754-80092824)x1	AATK, ACTG1 +41 more	Copy number loss	not provided	GLikely pathogenic
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	AFMID, LRRC45 +146 more	Copy number gain	not provided	GPathogenic
Select item 1526588	GRCh37/hg19 17q25.3(chr17:77641336-79465235)	AATK, BAHCC1 +23 more	Copy number gain	not specified	GUncertain significance
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 687727	GRCh37/hg19 17q25.3(chr17:78608912-81041938)x3	AATK, ACTG1 +65 more	Copy number gain	not provided	GPathogenic
Select item 564476	GRCh37/hg19 17q25.3(chr17:76552611-81041938)x3	AATK, ACTG1 +88 more	Copy number gain	not provided	GLikely pathogenic
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

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: 35