C3888093[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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

Search results

Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 325867	NM_001139.3(ALOX12B):c.*101A>G	ALOX12B	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 325868	NM_001139.3(ALOX12B):c.*66C>T	ALOX12B	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 2	GBenign
Select item 890039	NM_001139.3(ALOX12B):c.2082G>T (p.Leu694=)	ALOX12B	Single nucleotide variant (synonymous variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 890040	NM_001139.3(ALOX12B):c.1966G>A (p.Glu656Lys)	ALOX12B (E656K)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 325869	NM_001139.3(ALOX12B):c.1926+9C>T	ALOX12B	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 325870	NM_001139.3(ALOX12B):c.1926+4C>T	ALOX12B	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 325871	NM_001139.3(ALOX12B):c.1854G>T (p.Thr618=)	ALOX12B	Single nucleotide variant (synonymous variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 891592	NM_001139.3(ALOX12B):c.1842C>T (p.Thr614=)	ALOX12B	Single nucleotide variant (synonymous variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 325872	NM_001139.3(ALOX12B):c.1756-9C>T	ALOX12B	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 325873	NM_001139.3(ALOX12B):c.1655-9G>A	ALOX12B	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 2 +1 more	GConflicting classifications of pathogenicity
Select item 325874	NM_001139.3(ALOX12B):c.1592C>T (p.Pro531Leu)	ALOX12B (P531L)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 891593	NM_001139.3(ALOX12B):c.1586G>A (p.Gly529Asp)	ALOX12B (G529D)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 891594	NM_001139.3(ALOX12B):c.1577C>A (p.Ala526Asp)	ALOX12B (A526D)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 325875	NM_001139.3(ALOX12B):c.1570G>A (p.Asp524Asn)	ALOX12B (D524N)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 325876	NM_001139.3(ALOX12B):c.1565C>T (p.Pro522Leu)	ALOX12B (P522L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 39546	NM_001139.3(ALOX12B):c.1562A>G (p.Tyr521Cys)	ALOX12B (Y521C)	Single nucleotide variant (missense variant)	Lamellar ichthyosis +3 more	GPathogenic
Select item 891849	NM_001139.3(ALOX12B):c.1533-11C>G	ALOX12B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 325878	NM_001139.3(ALOX12B):c.1532+15G>T	ALOX12B	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 744968	NM_001139.3(ALOX12B):c.1497C>T (p.Arg499=)	ALOX12B	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 891850	NM_001139.3(ALOX12B):c.1460A>G (p.Glu487Gly)	ALOX12B (E487G)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 325879	NM_001139.3(ALOX12B):c.1413G>A (p.Leu471=)	ALOX12B	Single nucleotide variant (synonymous variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 891851	NM_001139.3(ALOX12B):c.1408G>T (p.Ala470Ser)	ALOX12B (A470S)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 325880	NM_001139.3(ALOX12B):c.1394G>T (p.Gly465Val)	ALOX12B (G465V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 891852	NM_001139.3(ALOX12B):c.1362+4A>C	ALOX12B	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 889407	NM_001139.3(ALOX12B):c.1325G>A (p.Arg442Gln)	ALOX12B (R442Q)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 39539	NM_001139.3(ALOX12B):c.1294C>T (p.Arg432Ter)	ALOX12B (R432*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 325882	NM_001139.3(ALOX12B):c.1179C>T (p.His393=)	ALOX12B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 739777	NM_001139.3(ALOX12B):c.1101C>T (p.Pro367=)	ALOX12B	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 325883	NM_001139.3(ALOX12B):c.1050G>A (p.Lys350=)	ALOX12B	Single nucleotide variant (synonymous variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 325884	NM_001139.3(ALOX12B):c.1040C>T (p.Pro347Leu)	ALOX12B (P347L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 889408	NM_001139.3(ALOX12B):c.1015C>G (p.Pro339Ala)	ALOX12B (P339A)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 889409	NM_001139.3(ALOX12B):c.927+5G>A	ALOX12B, LOC130060195	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 889410	NM_001139.3(ALOX12B):c.754+14C>G	ALOX12B	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 325886	NM_001139.3(ALOX12B):c.715A>G (p.Ile239Val)	ALOX12B (I239V)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2 +1 more	GUncertain significance
Select item 257554	NM_001139.3(ALOX12B):c.650+7C>G	ALOX12B	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 325887	NM_001139.3(ALOX12B):c.567C>A (p.Asn189Lys)	ALOX12B (N189K)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 325888	NM_001139.3(ALOX12B):c.561C>T (p.Leu187=)	ALOX12B	Single nucleotide variant (synonymous variant)	Autosomal recessive congenital ichthyosis 2 +1 more	GConflicting classifications of pathogenicity
Select item 325889	NM_001139.3(ALOX12B):c.528-8C>T	ALOX12B	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 2 +1 more	GConflicting classifications of pathogenicity
Select item 325890	NM_001139.3(ALOX12B):c.526G>A (p.Glu176Lys)	ALOX12B (E176K)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2 +2 more	GUncertain significance
Select item 890091	NM_001139.3(ALOX12B):c.434+11G>T	ALOX12B	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 890092	NM_001139.3(ALOX12B):c.380C>T (p.Pro127Leu)	ALOX12B (P127L)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 402365	NM_001139.3(ALOX12B):c.379C>T (p.Pro127Ser)	ALOX12B (P127S)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 890726	NM_001139.3(ALOX12B):c.345G>T (p.Glu115Asp)	ALOX12B (E115D)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 325915	NM_001139.3(ALOX12B):c.324C>T (p.Tyr108=)	ALOX12B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 325916	NM_001139.3(ALOX12B):c.301G>A (p.Ala101Thr)	ALOX12B (A101T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 325918	NM_001139.3(ALOX12B):c.280G>A (p.Gly94Ser)	ALOX12B (G94S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 632293	NM_001139.3(ALOX12B):c.235A>T (p.Lys79Ter)	ALOX12B (K79*)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 891969	NM_001139.3(ALOX12B):c.228C>A (p.Phe76Leu)	ALOX12B (F76L)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 325919	NM_001139.3(ALOX12B):c.222C>T (p.Tyr74=)	ALOX12B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 325925	NM_001139.3(ALOX12B):c.163G>A (p.Val55Met)	ALOX12B (V55M)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 889536	NM_001139.3(ALOX12B):c.147+13G>A	ALOX12B	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 325926	NM_001139.3(ALOX12B):c.144G>A (p.Gly48=)	ALOX12B	Single nucleotide variant (synonymous variant)	Autosomal recessive congenital ichthyosis 2 +1 more	GConflicting classifications of pathogenicity
Select item 325927	NM_001139.3(ALOX12B):c.135T>C (p.Phe45=)	ALOX12B	Single nucleotide variant (synonymous variant)	Autosomal recessive congenital ichthyosis 2 +2 more	GConflicting classifications of pathogenicity
Select item 325929	NM_001139.3(ALOX12B):c.48G>A (p.Ser16=)	ALOX12B	Single nucleotide variant (synonymous variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 325930	NM_001139.3(ALOX12B):c.42C>T (p.Leu14=)	ALOX12B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 325931	NM_001139.3(ALOX12B):c.39C>T (p.Asp13=)	ALOX12B	Single nucleotide variant (synonymous variant)	Autosomal recessive congenital ichthyosis 2 +2 more	GConflicting classifications of pathogenicity
Select item 890198	NM_001139.3(ALOX12B):c.25G>A (p.Ala9Thr)	ALOX12B (A9T)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 890199	NM_001139.3(ALOX12B):c.-2C>T	ALOX12B	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 325932	NM_001139.3(ALOX12B):c.-48C>A	ALOX12B	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 325933	NM_001139.3(ALOX12B):c.-110C>A	ALOX12B	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 890200	NM_001139.3(ALOX12B):c.-141C>T	ALOX12B	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 325934	NM_001139.3(ALOX12B):c.-155T>C	ALOX12B	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 325936	NM_001139.3(ALOX12B):c.-158G>T	ALOX12B	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive congenital ichthyosis 2	GBenign
Select item 325937	NM_001139.3(ALOX12B):c.-199G>A	ALOX12B	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 325938	NM_001139.3(ALOX12B):c.-201C>G	ALOX12B	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 325939	NM_001139.3(ALOX12B):c.-212C>T	ALOX12B	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance

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: 66