ClinVar for MedGen (Select 7002) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672143	NM_006121.4(KRT1):c.655G>T (p.Asp219Tyr)	KRT1 (D219Y)	Single nucleotide variant (missense variant)	Ichthyosis	GUncertain significance
Select item 813270	Single allele	VCX, PNPLA4 +2 more	Deletion	Ichthyosis +2 more	GPathogenic
Select item 617846	NM_001374623.1(PNPLA1):c.387C>A (p.Asp129Glu)	PNPLA1 (D34E +1 more)	Single nucleotide variant (missense variant)	Ichthyosis +1 more	GPathogenic
Select item 617845	NC_000017.11:g.8113975_8119273delinsC	ALOXE3, LOC126862485 +2 more	Indel (genic upstream transcript variant)	Ichthyosis	GPathogenic
Select item 545515	NM_000878.5(IL2RB):c.286C>T (p.Gln96Ter)	IL2RB (Q96*)	Single nucleotide variant (nonsense)	Ichthyosis	GPathogenic
Select item 523567	NM_173483.4(CYP4F22):c.1544G>T (p.Arg515Leu)	CYP4F22 (R515L)	Single nucleotide variant (missense variant)	Ichthyosis +1 more	GUncertain significance
Select item 523566	NM_173483.4(CYP4F22):c.1211T>C (p.Leu404Pro)	CYP4F22 (L404P)	Single nucleotide variant (missense variant)	Ichthyosis +1 more	GUncertain significance
Select item 523448	NM_002016.2(FLG):c.544A>T (p.Lys182Ter)	FLG, FLG-AS1 (K182*)	Single nucleotide variant (nonsense)	Microcephaly +7 more	GPathogenic
Select item 523447	NM_002016.2(FLG):c.10012A>T (p.Ser3338Cys)	FLG, FLG-AS1 (S3338C)	Single nucleotide variant (missense variant)	Ichthyosis vulgaris +4 more	GUncertain significance
Select item 374374	GRCh37/hg19 Xp22.31(chrX:6497085-7910475)	PUDP, PNPLA4 +2 more	Copy number loss	Ichthyosis	GPathogenic
Select item 374101	NM_001139.3(ALOX12B):c.1859C>A (p.Pro620Gln)	ALOX12B (P620Q)	Single nucleotide variant (missense variant)	Ichthyosis	GPathogenic
Select item 373954	NM_000094.4(COL7A1):c.1442G>A (p.Arg481His)	COL7A1 (R481H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 217304	NM_000359.3(TGM1):c.1363T>C (p.Trp455Arg)	TGM1 (W455R)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 217301	NM_021628.3(ALOXE3):c.418C>T (p.Arg140Ter)	ALOXE3 (R140* +1 more)	Single nucleotide variant (nonsense)	Lamellar ichthyosis	GPathogenic
Select item 39546	NM_001139.3(ALOX12B):c.1562A>G (p.Tyr521Cys)	ALOX12B (Y521C)	Single nucleotide variant (missense variant)	Ichthyosis +3 more	GPathogenic