ClinVar for MedGen (Select 854762) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2506499	NM_001139.3(ALOX12B):c.1235C>A (p.Ala412Asp)	ALOX12B (A412D)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 1526047	NM_001139.3(ALOX12B):c.1625_1626del (p.Lys542fs)	ALOX12B (K542fs)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 1299650	NM_001139.3(ALOX12B):c.805C>T (p.Leu269Phe)	ALOX12B, LOC130060196 (L269F)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GLikely pathogenic
Select item 1285482	NM_001139.3(ALOX12B):c.1144A>G (p.Lys382Glu)	ALOX12B (K382E)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 1207726	NM_001139.3(ALOX12B):c.403GAG[1] (p.Glu136del)	ALOX12B (E136del)	Microsatellite (inframe_deletion)	Autosomal recessive congenital ichthyosis 2 +1 more	GLikely pathogenic
Select item 1188970	NM_001139.3(ALOX12B):c.147+59_147+60del	ALOX12B	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1188969	NM_001139.3(ALOX12B):c.1532+30T>C	ALOX12B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1188968	NM_001139.3(ALOX12B):c.1655-30T>C	ALOX12B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1029147	NM_001139.3(ALOX12B):c.1496G>A (p.Arg499His)	ALOX12B (R499H)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2 +1 more	GConflicting classifications of pathogenicity
Select item 1029146	NM_001139.3(ALOX12B):c.1126T>C (p.Trp376Arg)	ALOX12B (W376R)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 995773	NM_001139.3(ALOX12B):c.47C>G (p.Ser16Trp)	ALOX12B (S16W)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995772	NM_001139.3(ALOX12B):c.938_941dup (p.Ala316fs)	ALOX12B (A316fs)	Duplication (frameshift variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995771	NM_001139.3(ALOX12B):c.67T>C (p.Ser23Pro)	ALOX12B (S23P)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995770	NM_001139.3(ALOX12B):c.771_772del (p.His257fs)	ALOX12B, LOC130060196 (H257fs)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995769	NM_001139.3(ALOX12B):c.47C>T (p.Ser16Leu)	ALOX12B (S16L)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995768	NM_001139.3(ALOX12B):c.769C>G (p.His257Asp)	ALOX12B, LOC130060196 (H257D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 995767	NM_001139.3(ALOX12B):c.632_633del (p.Phe211fs)	ALOX12B (F211fs)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995766	NM_001139.3(ALOX12B):c.527+1G>A	ALOX12B	Single nucleotide variant (splice donor variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995765	NM_001139.3(ALOX12B):c.416_417del (p.Ala139fs)	ALOX12B (A139fs)	Deletion (frameshift variant)	Lamellar ichthyosis	GLikely pathogenic
Select item 995764	NM_001139.3(ALOX12B):c.814G>T (p.Val272Phe)	ALOX12B, LOC130060196 (V272F)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995763	NM_001139.3(ALOX12B):c.893T>C (p.Leu298Pro)	ALOX12B (L298P)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995762	NM_001139.3(ALOX12B):c.793G>A (p.Gly265Arg)	ALOX12B, LOC130060196 (G265R)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995761	NM_001139.3(ALOX12B):c.58G>T (p.Asp20Tyr)	ALOX12B (D20Y)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995760	NM_001139.3(ALOX12B):c.786CTT[1] (p.Phe264del)	ALOX12B, LOC130060196 (F264del)	Microsatellite (inframe_deletion)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995759	NM_001139.3(ALOX12B):c.845delinsAA (p.Arg282fs)	ALOX12B (R282fs)	Indel (frameshift variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995758	NM_001139.3(ALOX12B):c.208_211dup (p.Lys71fs)	ALOX12B (K71fs)	Microsatellite (frameshift variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995757	NM_001139.3(ALOX12B):c.1871C>T (p.Thr624Ile)	ALOX12B (T624I)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995756	NM_001139.3(ALOX12B):c.1797G>T (p.Met599Ile)	ALOX12B (M599I)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995755	NM_001139.3(ALOX12B):c.2060A>G (p.Tyr687Cys)	ALOX12B (Y687C)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995754	NM_001139.3(ALOX12B):c.2041A>T (p.Lys681Ter)	ALOX12B (K681*)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995753	NM_001139.3(ALOX12B):c.1977del (p.Arg660fs)	ALOX12B (R660fs)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995752	NM_001139.3(ALOX12B):c.1936G>A (p.Gly646Arg)	ALOX12B (G646R)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995751	NM_001139.3(ALOX12B):c.1829C>T (p.Thr610Ile)	ALOX12B (T610I)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995750	NM_001139.3(ALOX12B):c.299C>T (p.Pro100Leu)	ALOX12B (P100L)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995749	NM_001139.3(ALOX12B):c.1594G>A (p.Glu532Lys)	ALOX12B (E532K)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995748	NM_001139.3(ALOX12B):c.1495C>T (p.Arg499Cys)	ALOX12B (R499C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 995747	NM_001139.3(ALOX12B):c.1385G>A (p.Gly462Asp)	ALOX12B (G462D)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995746	NM_001139.3(ALOX12B):c.1609G>A (p.Val537Met)	ALOX12B (V537M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 995745	NM_001139.3(ALOX12B):c.1369T>C (p.Ser457Pro)	ALOX12B (S457P)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995744	NM_001139.3(ALOX12B):c.1349G>A (p.Gly450Glu)	ALOX12B (G450E)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995743	NM_001139.3(ALOX12B):c.1427A>G (p.Tyr476Cys)	ALOX12B (Y476C)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995742	NM_001139.3(ALOX12B):c.130_131del (p.Asp44fs)	ALOX12B (D44fs)	Microsatellite (frameshift variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995741	NM_001139.3(ALOX12B):c.1192C>T (p.His398Tyr)	ALOX12B (H398Y)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995740	NM_001139.3(ALOX12B):c.1219G>A (p.Glu407Lys)	ALOX12B (E407K)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995739	NM_001139.3(ALOX12B):c.1265C>T (p.Pro422Leu)	ALOX12B (P422L)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 995738	NM_001139.3(ALOX12B):c.1157G>A (p.Arg386His)	ALOX12B (R386H)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995737	NM_001139.3(ALOX12B):c.1261C>T (p.His421Tyr)	ALOX12B (H421Y)	Single nucleotide variant (missense variant)	Lamellar ichthyosis	GLikely pathogenic
Select item 995736	NM_001139.3(ALOX12B):c.1127G>A (p.Trp376Ter)	ALOX12B (W376*)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995735	NM_001139.3(ALOX12B):c.1078C>G (p.Gln360Glu)	ALOX12B (Q360E)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995734	NM_001139.3(ALOX12B):c.1057C>A (p.Pro353Thr)	ALOX12B (P353T)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995733	NM_001139.3(ALOX12B):c.1926+2T>G	ALOX12B	Single nucleotide variant (splice donor variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995732	NM_001139.3(ALOX12B):c.371A>T (p.Asp124Val)	ALOX12B (D124V)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995731	NM_001139.3(ALOX12B):c.1821G>C (p.Lys607Asn)	ALOX12B (K607N)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995730	NM_001139.3(ALOX12B):c.1861G>T (p.Asp621Tyr)	ALOX12B (D621Y)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995729	NM_001139.3(ALOX12B):c.2012del (p.Gln671fs)	ALOX12B (Q671fs)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995728	NM_001139.3(ALOX12B):c.325G>T (p.Glu109Ter)	ALOX12B (E109*)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995727	NM_001139.3(ALOX12B):c.1694G>C (p.Arg565Pro)	ALOX12B (R565P)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995726	NM_001139.3(ALOX12B):c.2064C>G (p.Tyr688Ter)	ALOX12B (Y688*)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995725	NM_001139.3(ALOX12B):c.1654+1G>A	ALOX12B	Single nucleotide variant (splice donor variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995724	NM_001139.3(ALOX12B):c.1732C>T (p.His578Tyr)	ALOX12B (H578Y)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995723	NM_001139.3(ALOX12B):c.1634T>G (p.Leu545Arg)	ALOX12B (L545R)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995722	NM_001139.3(ALOX12B):c.1742T>G (p.Val581Gly)	ALOX12B (V581G)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995721	NM_001139.3(ALOX12B):c.2036G>A (p.Arg679His)	ALOX12B (R679H)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995720	NM_001139.3(ALOX12B):c.2035C>A (p.Arg679Ser)	ALOX12B (R679S)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995719	NM_001139.3(ALOX12B):c.1613A>C (p.Gln538Pro)	ALOX12B (Q538P)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995718	NM_001139.3(ALOX12B):c.1669_1681del (p.Arg558fs)	ALOX12B (R558fs)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995717	NM_001139.3(ALOX12B):c.1963G>A (p.Glu655Lys)	ALOX12B (E655K)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995716	NM_001139.3(ALOX12B):c.209A>C (p.His70Pro)	ALOX12B (H70P)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995715	NM_001139.3(ALOX12B):c.1405C>T (p.Arg469Trp)	ALOX12B (R469W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 995714	NM_001139.3(ALOX12B):c.1324C>T (p.Arg442Trp)	ALOX12B (R442W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 995713	NM_001139.3(ALOX12B):c.1071+1G>C	ALOX12B	Single nucleotide variant (splice donor variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995712	NM_001139.3(ALOX12B):c.1025T>C (p.Leu342Pro)	ALOX12B (L342P)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995711	NM_001139.3(ALOX12B):c.1018del (p.Leu340fs)	ALOX12B (L340fs)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995502	NM_001139.3(ALOX12B):c.734_745del (p.Gly245_Ser248del)	ALOX12B	Deletion (inframe_deletion)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995501	NM_001139.3(ALOX12B):c.1211T>G (p.Leu404Arg)	ALOX12B (L404R)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995500	NM_001139.3(ALOX12B):c.297C>A (p.Phe99Leu)	ALOX12B (F99L)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995499	NM_001139.3(ALOX12B):c.1654+3A>G	ALOX12B	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 995498	NM_001139.3(ALOX12B):c.2000A>C (p.Gln667Pro)	ALOX12B (Q667P)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995497	NM_001139.3(ALOX12B):c.1309A>T (p.Ile437Phe)	ALOX12B (I437F)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995496	NM_001139.3(ALOX12B):c.1350del (p.Leu451fs)	ALOX12B (L451fs)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995495	NM_001139.3(ALOX12B):c.195_220del (p.Ile66fs)	ALOX12B (I66fs)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995494	NM_001139.3(ALOX12B):c.1071+1dup	ALOX12B	Duplication (splice donor variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995493	NM_001139.3(ALOX12B):c.1676C>T (p.Thr559Ile)	ALOX12B (T559I)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995492	NM_001139.3(ALOX12B):c.1787C>T (p.Pro596Leu)	ALOX12B (P596L)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995491	NM_001139.3(ALOX12B):c.938T>C (p.Ile313Thr)	ALOX12B (I313T)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995490	NM_001139.3(ALOX12B):c.467_470dup (p.His158fs)	ALOX12B (H158fs)	Duplication (frameshift variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995489	NM_001139.3(ALOX12B):c.1463G>A (p.Arg488His)	ALOX12B (R488H)	Single nucleotide variant (missense variant)	ALOX12B-related disorder +1 more	GPathogenic
Select item 995488	NM_001139.3(ALOX12B):c.341G>A (p.Arg114Gln)	ALOX12B (R114Q)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995487	NM_001139.3(ALOX12B):c.698G>A (p.Trp233Ter)	ALOX12B (W233*)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995486	NM_001139.3(ALOX12B):c.928-1G>C	ALOX12B	Single nucleotide variant (splice acceptor variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995485	NM_001139.3(ALOX12B):c.1630T>C (p.Cys544Arg)	ALOX12B (C544R)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995484	NM_001139.3(ALOX12B):c.2005_2037dup (p.Leu669_Arg679dup)	ALOX12B	Duplication (inframe_insertion)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995483	NM_001139.3(ALOX12B):c.1533-1G>T	ALOX12B	Single nucleotide variant (splice acceptor variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995482	NM_001139.3(ALOX12B):c.307C>T (p.Gln103Ter)	ALOX12B (Q103*)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995481	NM_001139.3(ALOX12B):c.71T>C (p.Leu24Pro)	ALOX12B (L24P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 995480	NM_001139.3(ALOX12B):c.1937dup (p.His647fs)	ALOX12B (H647fs)	Duplication (frameshift variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995479	NM_001139.3(ALOX12B):c.1333CTC[1] (p.Leu446del)	ALOX12B (L446del)	Microsatellite (inframe_deletion)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995478	NM_001139.3(ALOX12B):c.2094C>A (p.Ser698Arg)	ALOX12B (S698R)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995477	NM_001139.3(ALOX12B):c.2021_2022dup (p.Asp675fs)	ALOX12B (D675fs)	Microsatellite (frameshift variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995476	NM_001139.3(ALOX12B):c.1655-7C>A	ALOX12B	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic

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