ClinVar for Gene (Select 146705) - ClinVar

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Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685609	GRCh37/hg19 17q25.3(chr17:79128754-80092824)x1	AATK, ACTG1 +41 more	Copy number loss	not provided	GLikely pathogenic
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 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 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 2410737	NM_001363764.2(TEPSIN):c.887C>T (p.Pro296Leu)	TEPSIN, LOC105371925 (P228L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2386398	NM_001363764.2(TEPSIN):c.1397C>T (p.Pro466Leu)	TEPSIN, LOC105371925 (P466L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2358330	NM_001363764.2(TEPSIN):c.361C>T (p.Arg121Cys)	TEPSIN (R121C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261744	NM_001363764.2(TEPSIN):c.1741C>G (p.Pro581Ala)	TEPSIN, LOC105371925 (P581A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
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)	Inborn genetic diseases	GUncertain significance
Select item 2239323	NM_001363764.2(TEPSIN):c.1687G>C (p.Asp563His)	TEPSIN, LOC105371925 (D563H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2210656	NM_001363764.2(TEPSIN):c.992G>A (p.Arg331His)	TEPSIN, LOC105371925 (R263H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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)	Inborn genetic diseases	GUncertain significance
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	AFMID, ALYREF +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 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 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 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 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	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +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 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 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 149717	GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3	AATK, ACTG1 +262 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 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	LOC130061805, LOC130061806 +1033 more	Copy number gain	See cases	GPathogenic
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	LOC126862671, LOC126862672 +387 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

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Links from Gene

Items: 35