AARSD1[gene] - ClinVar

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Items: 54

	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 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

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Items: 54