ClinVar for MedGen (Select 78659) - ClinVar

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Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067962	NM_000031.6(ALAD):c.165-2A>G	ALAD	Single nucleotide variant (splice acceptor variant)	Porphobilinogen synthase deficiency	GLikely pathogenic
Select item 2690871	NM_000031.6(ALAD):c.415G>A (p.Gly139Arg)	ALAD (G131R +2 more)	Single nucleotide variant (missense variant)	Porphobilinogen synthase deficiency	GUncertain significance
Select item 2431037	NM_000031.6(ALAD):c.446G>A (p.Arg149Gln)	ALAD (R141Q +2 more)	Single nucleotide variant (missense variant)	Porphobilinogen synthase deficiency	GUncertain significance
Select item 1033602	NM_000031.6(ALAD):c.874G>A (p.Gly292Arg)	ALAD (G292R +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 915073	NM_000031.6(ALAD):c.474C>G (p.Ala158=)	ALAD	Single nucleotide variant (synonymous variant)	Porphobilinogen synthase deficiency	GUncertain significance
Select item 915072	NM_000031.6(ALAD):c.692G>A (p.Arg231Gln)	ALAD (R223Q +2 more)	Single nucleotide variant (missense variant)	Porphobilinogen synthase deficiency	GLikely benign
Select item 915040	NM_000031.6(ALAD):c.*760T>C	ALAD	Single nucleotide variant (3 prime UTR variant)	Porphobilinogen synthase deficiency	GUncertain significance
Select item 915039	NM_000031.6(ALAD):c.*771C>T	ALAD	Single nucleotide variant (3 prime UTR variant)	Porphobilinogen synthase deficiency	GLikely benign
Select item 915038	NM_000031.6(ALAD):c.*920C>T	ALAD	Single nucleotide variant (3 prime UTR variant)	Porphobilinogen synthase deficiency	GUncertain significance
Select item 915037	NM_000031.6(ALAD):c.*1007G>A	ALAD	Single nucleotide variant (3 prime UTR variant)	Porphobilinogen synthase deficiency	GUncertain significance
Select item 915036	NM_000031.6(ALAD):c.*1280G>A	ALAD	Single nucleotide variant (3 prime UTR variant)	Porphobilinogen synthase deficiency	GUncertain significance
Select item 915035	NM_000031.6(ALAD):c.*1280G>C	ALAD	Single nucleotide variant (3 prime UTR variant)	Porphobilinogen synthase deficiency	GUncertain significance
Select item 914516	NM_000031.6(ALAD):c.*1322G>A	ALAD	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 914515	NM_000031.6(ALAD):c.*1381G>A	ALAD	Single nucleotide variant (3 prime UTR variant)	Porphobilinogen synthase deficiency	GLikely benign
Select item 914514	NM_000031.6(ALAD):c.*1473G>A	ALAD	Single nucleotide variant (3 prime UTR variant)	Porphobilinogen synthase deficiency	GLikely benign
Select item 914513	NM_000031.6(ALAD):c.*1671A>T	ALAD	Single nucleotide variant (3 prime UTR variant)	Porphobilinogen synthase deficiency	GUncertain significance
Select item 913865	NM_000031.6(ALAD):c.-75-11A>G	ALAD	Single nucleotide variant (intron variant)	Porphobilinogen synthase deficiency	GUncertain significance
Select item 913820	NM_000031.6(ALAD):c.770A>G (p.Tyr257Cys)	ALAD (Y249C +2 more)	Single nucleotide variant (missense variant)	Porphobilinogen synthase deficiency	GUncertain significance
Select item 913819	NM_000031.6(ALAD):c.801+14C>T	ALAD	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 913818	NM_000031.6(ALAD):c.870G>A (p.Gln290=)	ALAD	Single nucleotide variant (synonymous variant)	Porphobilinogen synthase deficiency	GUncertain significance
Select item 913817	NM_000031.6(ALAD):c.910A>G (p.Met304Val)	ALAD (M296V +2 more)	Single nucleotide variant (missense variant)	Porphobilinogen synthase deficiency	GUncertain significance
Select item 913490	NM_000031.6(ALAD):c.-70G>T	ALAD	Single nucleotide variant (5 prime UTR variant)	Porphobilinogen synthase deficiency	GUncertain significance
Select item 913440	NM_000031.6(ALAD):c.*12C>T	ALAD	Single nucleotide variant (3 prime UTR variant)	Porphobilinogen synthase deficiency	GUncertain significance
Select item 913439	NM_000031.6(ALAD):c.*234G>A	ALAD	Single nucleotide variant (3 prime UTR variant)	Porphobilinogen synthase deficiency	GUncertain significance
Select item 913438	NM_000031.6(ALAD):c.*317T>G	ALAD	Single nucleotide variant (3 prime UTR variant)	Porphobilinogen synthase deficiency	GLikely benign
Select item 913437	NM_000031.6(ALAD):c.*363G>A	ALAD	Single nucleotide variant (3 prime UTR variant)	Porphobilinogen synthase deficiency	GUncertain significance
Select item 913402	NM_000031.6(ALAD):c.*1737T>C	ALAD	Single nucleotide variant (3 prime UTR variant)	Porphobilinogen synthase deficiency	GBenign
Select item 913401	NM_000031.6(ALAD):c.*1787A>C	ALAD	Single nucleotide variant (3 prime UTR variant)	Porphobilinogen synthase deficiency	GUncertain significance
Select item 913400	NM_000031.6(ALAD):c.*1803A>G	ALAD	Single nucleotide variant (3 prime UTR variant)	Porphobilinogen synthase deficiency	GLikely benign
Select item 913399	NM_000031.6(ALAD):c.*1804T>C	ALAD	Single nucleotide variant (3 prime UTR variant)	Porphobilinogen synthase deficiency	GUncertain significance
Select item 913398	NM_000031.6(ALAD):c.*1832T>C	ALAD	Single nucleotide variant (3 prime UTR variant)	Porphobilinogen synthase deficiency	GUncertain significance
Select item 912358	NM_000031.6(ALAD):c.241G>A (p.Val81Ile)	ALAD (V73I +2 more)	Single nucleotide variant (missense variant)	Porphobilinogen synthase deficiency	GUncertain significance
Select item 912357	NM_000031.6(ALAD):c.277G>A (p.Ala93Thr)	ALAD (A85T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 912356	NM_000031.6(ALAD):c.398-13A>G	ALAD	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 912314	NM_000031.6(ALAD):c.*498C>T	ALAD	Single nucleotide variant (3 prime UTR variant)	Porphobilinogen synthase deficiency	GUncertain significance
Select item 912313	NM_000031.6(ALAD):c.*643G>T	ALAD	Single nucleotide variant (3 prime UTR variant)	Porphobilinogen synthase deficiency	GUncertain significance
Select item 726324	NM_000031.6(ALAD):c.468G>A (p.Ala156=)	ALAD	Single nucleotide variant (synonymous variant)	Porphobilinogen synthase deficiency +1 more	GBenign/Likely benign
Select item 646872	NM_000031.6(ALAD):c.715G>A (p.Asp239Asn)	ALAD (D231N +2 more)	Single nucleotide variant (missense variant)	Porphobilinogen synthase deficiency +1 more	GUncertain significance
Select item 548951	NM_000031.6(ALAD):c.520C>T (p.Arg174Cys)	ALAD (R174C +2 more)	Single nucleotide variant (missense variant)	Porphobilinogen synthase deficiency	GUncertain significance
Select item 546208	NM_000031.6(ALAD):c.784C>T (p.Arg262Trp)	ALAD (R262W +2 more)	Single nucleotide variant (missense variant)	Porphobilinogen synthase deficiency +1 more	GUncertain significance
Select item 522441	NM_000031.6(ALAD):c.29G>C (p.Gly10Ala)	ALAD (G10A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 364669	NM_000031.5(ALAD):c.-197G>T	ALAD, LOC130002419	Single nucleotide variant	Porphobilinogen synthase deficiency	GUncertain significance
Select item 364668	NM_000031.5(ALAD):c.-177C>T	ALAD, LOC130002419	Single nucleotide variant	Porphobilinogen synthase deficiency	GLikely benign
Select item 364667	NM_000031.5(ALAD):c.-160_-159insA	ALAD, LOC130002419	Insertion	Porphobilinogen synthase deficiency	GUncertain significance
Select item 364666	NM_000031.5(ALAD):c.-156C>A	ALAD, LOC130002419	Single nucleotide variant	Porphobilinogen synthase deficiency	GUncertain significance
Select item 364665	NM_000031.5(ALAD):c.-157_-156insCG	ALAD, LOC130002419	Insertion	Porphobilinogen synthase deficiency	GUncertain significance
Select item 364664	NM_000031.5(ALAD):c.-155C>G	ALAD, LOC130002419	Single nucleotide variant	Porphobilinogen synthase deficiency	GLikely benign
Select item 364663	NM_000031.5(ALAD):c.-162_-159dup	ALAD, LOC130002419	Duplication	Porphobilinogen synthase deficiency	GUncertain significance
Select item 364662	NM_000031.5(ALAD):c.-162_-161dup	ALAD, LOC130002419	Duplication	Porphobilinogen synthase deficiency	GLikely benign
Select item 364661	NM_000031.5(ALAD):c.-162dup	ALAD, LOC130002419	Duplication	Porphobilinogen synthase deficiency	GLikely benign
Select item 364660	NM_000031.6(ALAD):c.-131C>T	ALAD, LOC130002419	Single nucleotide variant (5 prime UTR variant)	Porphobilinogen synthase deficiency	GLikely benign
Select item 364659	NM_000031.6(ALAD):c.-76+15G>T	ALAD	Single nucleotide variant (intron variant)	Porphobilinogen synthase deficiency	GUncertain significance
Select item 364658	NM_000031.6(ALAD):c.-4C>T	ALAD	Single nucleotide variant (5 prime UTR variant +1 more)	Porphobilinogen synthase deficiency	GLikely benign
Select item 364657	NM_000031.6(ALAD):c.1A>G (p.Met1Val)	ALAD (M1V +1 more)	Single nucleotide variant (missense variant +2 more)	Porphobilinogen synthase deficiency	GUncertain significance
Select item 364656	NM_000031.6(ALAD):c.15C>T (p.Ser5=)	ALAD	Single nucleotide variant (5 prime UTR variant +1 more)	Porphobilinogen synthase deficiency +1 more	GBenign/Likely benign
Select item 364655	NM_000031.6(ALAD):c.16G>A (p.Val6Ile)	ALAD (V6I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 364654	NM_000031.6(ALAD):c.72C>T (p.Thr24=)	ALAD	Single nucleotide variant (synonymous variant +1 more)	Porphobilinogen synthase deficiency +1 more	GBenign
Select item 364653	NM_000031.6(ALAD):c.168T>C (p.Tyr56=)	ALAD	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 364652	NM_000031.6(ALAD):c.264C>T (p.Asp88=)	ALAD	Single nucleotide variant (synonymous variant)	ALAD-related condition +2 more	GConflicting classifications of pathogenicity
Select item 364651	NM_000031.6(ALAD):c.397+12C>T	ALAD	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 364650	NM_000031.6(ALAD):c.414C>T (p.Asn138=)	ALAD	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 364649	NM_000031.6(ALAD):c.439C>T (p.Arg147Cys)	ALAD (R147C +2 more)	Single nucleotide variant (missense variant)	Porphobilinogen synthase deficiency	GUncertain significance
Select item 364648	NM_000031.6(ALAD):c.463T>C (p.Leu155=)	ALAD	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 364647	NM_000031.6(ALAD):c.501G>A (p.Pro167=)	ALAD	Single nucleotide variant (synonymous variant)	Porphobilinogen synthase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 364646	NM_000031.6(ALAD):c.521G>A (p.Arg174His)	ALAD (R174H +2 more)	Single nucleotide variant (missense variant)	Porphobilinogen synthase deficiency	GUncertain significance
Select item 364645	NM_000031.6(ALAD):c.678G>T (p.Leu226=)	ALAD	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 364644	NM_000031.6(ALAD):c.715-14C>A	ALAD	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 364643	NM_000031.6(ALAD):c.724G>A (p.Val242Ile)	ALAD (V242I +2 more)	Single nucleotide variant (missense variant)	Porphobilinogen synthase deficiency +1 more	GUncertain significance
Select item 364642	NM_000031.6(ALAD):c.897C>T (p.Ala299=)	ALAD	Single nucleotide variant (synonymous variant)	Porphobilinogen synthase deficiency	GUncertain significance
Select item 364641	NM_000031.6(ALAD):c.931+15G>A	ALAD	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 364640	NM_000031.6(ALAD):c.940A>G (p.Ile314Val)	ALAD (I314V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 364639	NM_000031.6(ALAD):c.*106C>G	ALAD	Single nucleotide variant (3 prime UTR variant)	Porphobilinogen synthase deficiency	GUncertain significance
Select item 364638	NM_000031.6(ALAD):c.*127C>T	ALAD	Single nucleotide variant (3 prime UTR variant)	Porphobilinogen synthase deficiency	GUncertain significance
Select item 364637	NM_000031.6(ALAD):c.*381G>A	ALAD	Single nucleotide variant (3 prime UTR variant)	Porphobilinogen synthase deficiency	GUncertain significance
Select item 364636	NM_000031.6(ALAD):c.*400G>A	ALAD	Single nucleotide variant (3 prime UTR variant)	Porphobilinogen synthase deficiency	GUncertain significance
Select item 364635	NM_000031.6(ALAD):c.*422G>T	ALAD	Single nucleotide variant (3 prime UTR variant)	Porphobilinogen synthase deficiency	GUncertain significance
Select item 364634	NM_000031.6(ALAD):c.*438G>C	ALAD	Single nucleotide variant (3 prime UTR variant)	Porphobilinogen synthase deficiency	GUncertain significance
Select item 364633	NM_000031.6(ALAD):c.459_463del	ALAD	Deletion (3 prime UTR variant)	Porphobilinogen synthase deficiency	GUncertain significance
Select item 364632	NM_000031.6(ALAD):c.*471C>T	ALAD	Single nucleotide variant (3 prime UTR variant)	Porphobilinogen synthase deficiency	GBenign
Select item 364631	NM_000031.6(ALAD):c.*613G>A	ALAD	Single nucleotide variant (3 prime UTR variant)	Porphobilinogen synthase deficiency	GBenign
Select item 364630	NM_000031.6(ALAD):c.*676dup	ALAD	Duplication (3 prime UTR variant)	Porphobilinogen synthase deficiency	GUncertain significance
Select item 364629	NM_000031.6(ALAD):c.*813A>G	ALAD	Single nucleotide variant (3 prime UTR variant)	Porphobilinogen synthase deficiency	GBenign
Select item 364628	NM_000031.6(ALAD):c.*871C>A	ALAD	Single nucleotide variant (3 prime UTR variant)	Porphobilinogen synthase deficiency	GBenign
Select item 364627	NM_000031.6(ALAD):c.*1464A>G	ALAD	Single nucleotide variant (3 prime UTR variant)	Porphobilinogen synthase deficiency	GUncertain significance
Select item 364626	NM_000031.6(ALAD):c.*1470G>A	ALAD	Single nucleotide variant (3 prime UTR variant)	Porphobilinogen synthase deficiency	GUncertain significance
Select item 364625	NM_000031.6(ALAD):c.*1511T>C	ALAD	Single nucleotide variant (3 prime UTR variant)	Porphobilinogen synthase deficiency	GUncertain significance
Select item 364624	NM_000031.6(ALAD):c.*1631G>A	ALAD	Single nucleotide variant (3 prime UTR variant)	Porphobilinogen synthase deficiency	GUncertain significance
Select item 364623	NM_000031.6(ALAD):c.*1675C>T	ALAD	Single nucleotide variant (3 prime UTR variant)	Porphobilinogen synthase deficiency	GUncertain significance
Select item 364622	NM_000031.6(ALAD):c.*1741G>A	ALAD	Single nucleotide variant (3 prime UTR variant)	Porphobilinogen synthase deficiency	GUncertain significance
Select item 364621	NM_000031.6(ALAD):c.1811_1812del	ALAD	Deletion (3 prime UTR variant)	Porphobilinogen synthase deficiency	GLikely benign
Select item 364620	NM_000031.6(ALAD):c.*1864A>C	ALAD	Single nucleotide variant (3 prime UTR variant)	Porphobilinogen synthase deficiency	GUncertain significance
Select item 364619	NM_000031.6(ALAD):c.*1915del	ALAD	Deletion (3 prime UTR variant)	Porphobilinogen synthase deficiency	GUncertain significance
Select item 364618	NM_000031.6(ALAD):c.*1950G>A	ALAD	Single nucleotide variant (3 prime UTR variant)	Porphobilinogen synthase deficiency	GBenign
Select item 16869	NM_000031.6(ALAD):c.165-11C>T	ALAD	Single nucleotide variant (intron variant)	Porphobilinogen synthase deficiency	GPathogenic
Select item 16868	NM_000031.6(ALAD):c.165-11C>A	ALAD	Single nucleotide variant (intron variant)	Porphobilinogen synthase deficiency	GPathogenic
Select item 16866	NM_000031.6(ALAD):c.820G>A (p.Ala274Thr)	ALAD (A274T +2 more)	Single nucleotide variant (missense variant)	Porphobilinogen synthase deficiency	GPathogenic
Select item 16865	NM_000031.6(ALAD):c.718C>T (p.Arg240Trp)	ALAD (R240W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 16864	NM_000031.6(ALAD):c.177G>C (p.Lys59Asn)	ALAD (K59N +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 16863	NM_000031.6(ALAD):c.823G>A (p.Val275Met)	ALAD (V275M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 16862	NM_000031.6(ALAD):c.397G>A (p.Gly133Arg)	ALAD (G133R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic

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Items: 100