PTGES3L-AARSD1[gene] - ClinVar

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

Search results

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 2217954	NM_001261434.2(AARSD1):c.1220C>T (p.Thr407Met)	AARSD1, PTGES3L-AARSD1 (T520M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392179	NM_001261434.2(AARSD1):c.1219A>G (p.Thr407Ala)	AARSD1, PTGES3L-AARSD1 (T407A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302513	NM_001261434.2(AARSD1):c.1196C>T (p.Ala399Val)	AARSD1, PTGES3L-AARSD1 (A573V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262946	NM_001261434.2(AARSD1):c.1193A>T (p.Gln398Leu)	AARSD1, PTGES3L-AARSD1 (Q511L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263047	NM_001261434.2(AARSD1):c.1190C>T (p.Ala397Val)	AARSD1, PTGES3L-AARSD1 (A397V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3139565	NM_001261434.2(AARSD1):c.1183A>C (p.Met395Leu)	AARSD1, PTGES3L-AARSD1 (M569L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385457	NM_001261434.2(AARSD1):c.1177C>T (p.Arg393Trp)	AARSD1, PTGES3L-AARSD1 (R506W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139521	NM_001261434.2(AARSD1):c.1160A>T (p.Lys387Met)	AARSD1, PTGES3L-AARSD1 (K387M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237359	NM_001261434.2(AARSD1):c.1147C>T (p.Arg383Cys)	AARSD1, PTGES3L-AARSD1 (R496C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600763	NM_001261434.2(AARSD1):c.1104G>C (p.Arg368Ser)	AARSD1, PTGES3L-AARSD1 (R481S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139403	NM_001261434.2(AARSD1):c.1049G>C (p.Gly350Ala)	AARSD1, PTGES3L-AARSD1 (G463A +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2470030	NM_001261434.2(AARSD1):c.1049G>T (p.Gly350Val)	AARSD1, PTGES3L-AARSD1 (G350V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226038	NM_001261434.2(AARSD1):c.1024T>G (p.Leu342Val)	AARSD1, PTGES3L-AARSD1 (L342V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262782	NM_001261434.2(AARSD1):c.994G>A (p.Glu332Lys)	AARSD1, PTGES3L-AARSD1 (E332K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317861	NM_001261434.2(AARSD1):c.992A>G (p.Asn331Ser)	AARSD1, PTGES3L-AARSD1 (N505S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262654	NM_001261434.2(AARSD1):c.962G>T (p.Gly321Val)	AARSD1, PTGES3L-AARSD1 (G321V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455162	NM_001261434.2(AARSD1):c.941T>C (p.Val314Ala)	AARSD1, PTGES3L-AARSD1 (V314A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139265	NM_001261434.2(AARSD1):c.934G>A (p.Gly312Ser)	AARSD1, PTGES3L-AARSD1 (G312S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568812	NM_001261434.2(AARSD1):c.929G>T (p.Trp310Leu)	AARSD1, PTGES3L-AARSD1 (W310L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139202	NM_001261434.2(AARSD1):c.905A>G (p.His302Arg)	AARSD1, PTGES3L-AARSD1 (H302R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595627	NM_001261434.2(AARSD1):c.886C>G (p.Leu296Val)	AARSD1, PTGES3L-AARSD1 (L296V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262552	NM_001261434.2(AARSD1):c.812A>T (p.His271Leu)	AARSD1, PTGES3L-AARSD1 (H271L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139146	NM_001261434.2(AARSD1):c.785C>T (p.Ala262Val)	AARSD1, PTGES3L-AARSD1 (A375V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240693	NM_001261434.2(AARSD1):c.635C>G (p.Thr212Ser)	AARSD1, PTGES3L-AARSD1 (T212S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489181	NM_001261434.2(AARSD1):c.581G>A (p.Gly194Glu)	AARSD1, PTGES3L-AARSD1 (G368E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553811	NM_001261434.2(AARSD1):c.557G>A (p.Arg186Gln)	AARSD1, PTGES3L-AARSD1 (R186Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138990	NM_001261434.2(AARSD1):c.535G>A (p.Glu179Lys)	AARSD1, PTGES3L-AARSD1 (E179K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263147	NM_001261434.2(AARSD1):c.526G>T (p.Asp176Tyr)	AARSD1, PTGES3L-AARSD1 (D176Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262722	NM_001261434.2(AARSD1):c.493C>T (p.Arg165Trp)	AARSD1, PTGES3L-AARSD1 (R339W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338220	NM_001261434.2(AARSD1):c.451G>A (p.Val151Ile)	AARSD1, PTGES3L-AARSD1 (V325I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262850	NM_001261434.2(AARSD1):c.445G>A (p.Glu149Lys)	AARSD1, PTGES3L-AARSD1 (E323K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391980	NM_001261434.2(AARSD1):c.364C>A (p.Leu122Ile)	AARSD1, PTGES3L-AARSD1 (L122I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320923	NM_001261434.2(AARSD1):c.320A>G (p.Gln107Arg)	AARSD1, PTGES3L-AARSD1 (Q220R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140068	NM_001261434.2(AARSD1):c.302G>A (p.Arg101Gln)	AARSD1, PTGES3L-AARSD1 (R101Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228185	NM_001261434.2(AARSD1):c.287G>A (p.Arg96Gln)	AARSD1, PTGES3L-AARSD1 (R96Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3139991	NM_001261434.2(AARSD1):c.224G>T (p.Arg75Leu)	AARSD1, PTGES3L-AARSD1 (R249L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462956	NM_001261434.2(AARSD1):c.190A>G (p.Ile64Val)	AARSD1, PTGES3L-AARSD1 (I177V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465794	NM_001261434.2(AARSD1):c.175G>A (p.Asp59Asn)	AARSD1, PTGES3L-AARSD1 (D172N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222967	NM_001261434.2(AARSD1):c.167G>A (p.Gly56Glu)	AARSD1, PTGES3L-AARSD1 (G56E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139868	NM_001261434.2(AARSD1):c.163G>C (p.Gly55Arg)	AARSD1, PTGES3L-AARSD1 (G55R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139817	NM_001261434.2(AARSD1):c.117C>G (p.Ser39Arg)	AARSD1, PTGES3L-AARSD1 (S39R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329984	NM_001261434.2(AARSD1):c.73G>A (p.Glu25Lys)	AARSD1, PTGES3L-AARSD1 (E25K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279759	NM_001261434.2(AARSD1):c.71C>T (p.Ala24Val)	AARSD1, PTGES3L-AARSD1 (A198V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279603	NM_001261434.2(AARSD1):c.70G>C (p.Ala24Pro)	AARSD1, PTGES3L-AARSD1 (A24P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139664	NM_001261434.2(AARSD1):c.44C>G (p.Thr15Ser)	AARSD1, PTGES3L-AARSD1 (T15S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 403353	NM_001261430.2(PTGES3L):c.433-8_433-7del	PTGES3L, PTGES3L-AARSD1	Deletion (intron variant)	not specified	GBenign
Select item 2647807	NM_001136042.2(PTGES3L-AARSD1):c.120G>A (p.Ala40=)	PTGES3L, PTGES3L-AARSD1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2218645	NM_001136042.2(PTGES3L-AARSD1):c.119C>T (p.Ala40Val)	AARSD1, PTGES3L +1 more (A40V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2423446	NC_000017.10:g.(?_41052894)_(41154937_?)dup	AARSD1, G6PC1 +4 more	Duplication	not provided	GUncertain significance
Select item 1809350	GRCh37/hg19 17q21.31(chr17:41105913-41307101)x3	AARSD1, BRCA1 +8 more	Copy number gain	not provided	GUncertain significance
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

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: 56