LOC105371925[gene] - ClinVar

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Items: 21

	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)	TEPSIN, LOC105371925 (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)	TEPSIN, LOC105371925 (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

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Items: 21