ClinVar (all) for Orgtrack (Select 506706) - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 633834	NM_177973.2(SULT2B1):c.298C>T (p.Arg100Trp)	SULT2B1 (R100W +1 more)	Single nucleotide variant (missense variant)	Ichthyosis, congenital, autosomal recessive 14	GLikely pathogenic
Select item 633833	NM_177973.2(SULT2B1):c.232G>A (p.Glu78Lys)	SULT2B1 (E78K +1 more)	Single nucleotide variant (missense variant)	Ichthyosis, congenital, autosomal recessive 14	GLikely pathogenic
Select item 633832	NM_173076.3(ABCA12):c.7276C>T (p.Arg2426Trp)	ABCA12, SNHG31 (R2426W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 633831	NM_173076.3(ABCA12):c.7247C>T (p.Pro2416Leu)	ABCA12, SNHG31 (P2416L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 633830	NM_173076.3(ABCA12):c.5562G>A (p.Gln1854=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive congenital ichthyosis 4B	GUncertain significance
Select item 633829	NM_173076.3(ABCA12):c.3446T>C (p.Leu1149Pro)	ABCA12 (L1149P +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive congenital ichthyosis 4B	GLikely pathogenic
Select item 633828	NM_173076.3(ABCA12):c.2683G>A (p.Asp895Asn)	ABCA12 (D895N +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive congenital ichthyosis 4B	GUncertain significance
Select item 633827	NM_001139.3(ALOX12B):c.1350dup (p.Leu451fs)	ALOX12B (L451fs)	Duplication (frameshift variant)	Autosomal recessive congenital ichthyosis 2 +1 more	GPathogenic/Likely pathogenic
Select item 633826	NM_001139.3(ALOX12B):c.787T>C (p.Phe263Leu)	LOC130060196, ALOX12B (F263L)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 633825	NM_001139.3(ALOX12B):c.286_287dup (p.Tyr97fs)	ALOX12B (Y97fs)	Duplication (frameshift variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 633824	NM_001139.3(ALOX12B):c.1697A>G (p.Tyr566Cys)	ALOX12B (Y566C)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GLikely pathogenic
Select item 633823	NM_001139.3(ALOX12B):c.149_353del (p.Val50fs)	ALOX12B (V50fs)	Deletion (frameshift variant +2 more)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 633822	NM_001139.3(ALOX12B):c.1349G>T (p.Gly450Val)	ALOX12B (G450V)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 633821	NM_001139.3(ALOX12B):c.1325G>T (p.Arg442Leu)	ALOX12B (R442L)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GLikely pathogenic
Select item 633820	NM_001139.3(ALOX12B):c.338T>C (p.Leu113Pro)	ALOX12B (L113P)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GLikely pathogenic
Select item 633819	NM_001139.3(ALOX12B):c.83G>A (p.Gly28Glu)	ALOX12B (G28E)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GConflicting classifications of pathogenicity
Select item 633818	NM_001374623.1(PNPLA1):c.727TAC[2] (p.Tyr245del)	PNPLA1 (Y150del +2 more)	Microsatellite (inframe_deletion)	Autosomal recessive congenital ichthyosis 10	GPathogenic
Select item 633817	NM_000359.3(TGM1):c.400T>C (p.Tyr134His)	TGM1 (Y134H)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1	GPathogenic/Likely pathogenic
Select item 633816	NM_000359.3(TGM1):c.131G>A (p.Trp44Ter)	TGM1 (W44*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 633815	NM_148897.3(SDR9C7):c.355G>A (p.Glu119Lys)	SDR9C7 (E119K)	Single nucleotide variant (missense variant)	Congenital ichthyosis of skin	GLikely pathogenic
Select item 633814	NM_148897.3(SDR9C7):c.112G>A (p.Gly38Arg)	SDR9C7 (G38R)	Single nucleotide variant (missense variant)	Ichthyosis, congenital, autosomal recessive 13 +1 more	GConflicting classifications of pathogenicity
Select item 633813	NM_021628.3(ALOXE3):c.2065C>T (p.Arg689Trp)	ALOXE3 (R689W +2 more)	Single nucleotide variant (missense variant)	Lamellar ichthyosis +1 more	GLikely pathogenic
Select item 633812	NM_021628.3(ALOXE3):c.1208A>G (p.His403Arg)	ALOXE3, LOC130060198 (H403R +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GLikely pathogenic
Select item 633811	NM_021628.3(ALOXE3):c.834C>A (p.Tyr278Ter)	ALOXE3 (Y278* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 3 +1 more	GPathogenic
Select item 633810	NM_021628.3(ALOXE3):c.306T>A (p.Tyr102Ter)	ALOXE3 (Y102* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 633809	NM_173483.4(CYP4F22):c.550-11_550-4delinsGGTGACATCTGG	CYP4F22	Indel (intron variant)	Autosomal recessive congenital ichthyosis 5	GUncertain significance
Select item 633808	NM_173483.4(CYP4F22):c.1493T>G (p.Leu498Arg)	CYP4F22 (L498R)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 5	GUncertain significance
Select item 633807	NM_173483.4(CYP4F22):c.1219C>T (p.Arg407Cys)	CYP4F22 (R407C)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 5	GLikely pathogenic
Select item 633806	NM_173483.4(CYP4F22):c.236A>G (p.Glu79Gly)	CYP4F22 (E79G)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 5	GLikely pathogenic
Select item 633805	NM_001099287.2(NIPAL4):c.520_526del (p.Ile174fs)	NIPAL4 (I217fs +1 more)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 6	GPathogenic
Select item 633804	NM_001099287.2(NIPAL4):c.897C>A (p.Tyr299Ter)	NIPAL4 (Y361* +3 more)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 6	GPathogenic
Select item 633803	NM_001378789.1(CERS3):c.731G>A (p.Trp244Ter)	CERS3 (W244* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 9	GPathogenic
Select item 633802	NM_173076.3(ABCA12):c.7673T>C (p.Leu2558Pro)	ABCA12, SNHG31 (L2558P +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive congenital ichthyosis 4B	GUncertain significance
Select item 633801	NM_173076.3(ABCA12):c.7277G>A (p.Arg2426Gln)	ABCA12, SNHG31 (R2426Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 633800	NM_001374623.1(PNPLA1):c.205+5G>A	PNPLA1	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 10 +1 more	GConflicting classifications of pathogenicity
Select item 633799	NM_001374623.1(PNPLA1):c.737G>C (p.Arg246Pro)	PNPLA1 (R151P +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 10	GLikely pathogenic
Select item 633798	NM_001374623.1(PNPLA1):c.614C>T (p.Pro205Leu)	PNPLA1 (P110L +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 10	GLikely pathogenic
Select item 633797	NM_001374623.1(PNPLA1):c.149C>A (p.Ala50Glu)	PNPLA1 (A50E)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive congenital ichthyosis 10	GLikely pathogenic
Select item 633796	NM_001374623.1(PNPLA1):c.56C>G (p.Ser19Trp)	PNPLA1 (S19W)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive congenital ichthyosis 10	GLikely pathogenic
Select item 633795	NM_000359.3(TGM1):c.1862A>G (p.Tyr621Cys)	TGM1 (Y621C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 633794	NM_000359.3(TGM1):c.862T>C (p.Trp288Arg)	TGM1 (W288R)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 633793	NM_000359.3(TGM1):c.1928-1G>A	TGM1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive congenital ichthyosis 1	GPathogenic
Select item 633792	NM_000359.3(TGM1):c.1521del (p.Gln508fs)	TGM1 (Q508fs)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 1	GPathogenic
Select item 633791	NM_000359.3(TGM1):c.1298+1G>A	TGM1	Single nucleotide variant (splice donor variant)	Autosomal recessive congenital ichthyosis 1	GPathogenic
Select item 633790	NM_000359.3(TGM1):c.1420C>T (p.Pro474Ser)	TGM1 (P474S)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1 +1 more	GPathogenic/Likely pathogenic
Select item 633789	NM_000359.3(TGM1):c.1307A>G (p.His436Arg)	TGM1 (H436R)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1	GPathogenic
Select item 633788	NM_000359.3(TGM1):c.1491G>A (p.Glu497=)	TGM1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 633787	NM_000359.3(TGM1):c.1186C>T (p.Arg396Cys)	TGM1 (R396C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 633786	NM_000359.3(TGM1):c.856C>T (p.Arg286Trp)	TGM1 (R286W)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 590275	NM_004004.6(GJB2):c.526A>G (p.Asn176Asp)	GJB2 (N176D)	Single nucleotide variant (missense variant)	IFAP syndrome 1, with or without BRESHECK syndrome +1 more	GPathogenic/Likely pathogenic
Select item 488591	NM_148897.3(SDR9C7):c.658C>T (p.Arg220Ter)	SDR9C7 (R220*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 437455	NM_001139.3(ALOX12B):c.527+2T>G	ALOX12B	Single nucleotide variant (splice donor variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic/Likely pathogenic
Select item 372530	NM_000359.3(TGM1):c.398_407dup (p.Tyr136Ter)	TGM1 (Y136*)	Duplication (nonsense)	not provided +2 more	GPathogenic

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Items: 53