TESPA1[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 152934	GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3	PMEL, PPP1R1A +219 more	Copy number gain	See cases	GPathogenic
Select item 2265097	NM_001136030.3(TESPA1):c.1516A>G (p.Arg506Gly)	TESPA1 (R253G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1335108	NM_001136030.3(TESPA1):c.1494G>A (p.Gln498=)	TESPA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2609000	NM_001136030.3(TESPA1):c.1487A>G (p.Glu496Gly)	TESPA1 (E358G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2643058	NM_001136030.3(TESPA1):c.1419G>A (p.Leu473=)	TESPA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2281429	NM_001136030.3(TESPA1):c.1354G>C (p.Val452Leu)	TESPA1 (V199L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176190	NM_001136030.3(TESPA1):c.1296G>T (p.Trp432Cys)	TESPA1 (W179C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271483	NM_001136030.3(TESPA1):c.1258A>G (p.Asn420Asp)	TESPA1 (N167D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292298	NM_001136030.3(TESPA1):c.1154A>T (p.Asn385Ile)	TESPA1 (N132I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524093	NM_001136030.3(TESPA1):c.1151C>T (p.Ser384Leu)	TESPA1 (S384L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325486	NM_001136030.3(TESPA1):c.1039C>T (p.Pro347Ser)	TESPA1 (P138S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617934	NM_001136030.3(TESPA1):c.1022A>T (p.Gln341Leu)	TESPA1 (Q88L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320853	NM_001136030.3(TESPA1):c.1021C>G (p.Gln341Glu)	TESPA1 (Q203E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236205	NM_001136030.3(TESPA1):c.966A>C (p.Lys322Asn)	TESPA1 (K184N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613570	NM_001136030.3(TESPA1):c.936G>C (p.Leu312Phe)	TESPA1 (L174F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176194	NM_001136030.3(TESPA1):c.893A>G (p.Asp298Gly)	TESPA1 (D160G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242771	NM_001136030.3(TESPA1):c.835C>A (p.Pro279Thr)	TESPA1 (P279T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224095	NM_001136030.3(TESPA1):c.815G>A (p.Arg272Gln)	TESPA1 (R134Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176193	NM_001136030.3(TESPA1):c.744G>T (p.Lys248Asn)	TESPA1 (K110N +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2388833	NM_001136030.3(TESPA1):c.740A>T (p.Gln247Leu)	TESPA1 (Q109L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3176192	NM_001136030.3(TESPA1):c.716C>T (p.Ser239Phe)	TESPA1 (S101F +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3176191	NM_001136030.3(TESPA1):c.617G>A (p.Arg206Gln)	TESPA1 (R68Q +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 3325487	NM_001136030.3(TESPA1):c.547G>T (p.Ala183Ser)	TESPA1 (A45S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2234631	NM_001136030.3(TESPA1):c.100G>T (p.Ala34Ser)	TESPA1 (A34S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176195	NM_001136030.3(TESPA1):c.92A>T (p.Glu31Val)	TESPA1 (E31V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599598	NM_001136030.3(TESPA1):c.69C>A (p.Asn23Lys)	TESPA1 (N23K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539499	NM_001136030.3(TESPA1):c.25A>C (p.Thr9Pro)	TESPA1 (T9P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539466	NM_001136030.3(TESPA1):c.20G>C (p.Ser7Thr)	TESPA1 (S7T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 32