ClinVar for OMIM (Select 602400) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1325140	NM_021978.4(ST14):c.241+1G>A	ST14	Single nucleotide variant (splice donor variant)	Autosomal recessive congenital ichthyosis 11	GLikely pathogenic
Select item 1283428	NM_021978.4(ST14):c.1223+29G>A	ST14	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 11 +1 more	GBenign
Select item 1273229	NM_021978.4(ST14):c.875+23A>G	ST14	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 11 +1 more	GBenign
Select item 1266188	NM_021978.4(ST14):c.1015+40A>G	ST14	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 11 +1 more	GBenign
Select item 1237410	NM_021978.4(ST14):c.1684+38C>T	ST14	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 11 +1 more	GBenign
Select item 979027	NM_021978.4(ST14):c.1315G>A (p.Gly439Ser)	ST14 (G439S)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 11	GLikely pathogenic
Select item 518238	NM_021978.4(ST14):c.1215C>T (p.Asn405=)	ST14	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 518237	NM_021978.4(ST14):c.1113+15G>A	ST14	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 11 +1 more	GBenign
Select item 126420	NM_021978.4(ST14):c.2034del (p.Leu678fs)	ST14 (L678fs)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 11	GPathogenic
Select item 126419	NM_021978.4(ST14):c.2269+1G>A	ST14	Single nucleotide variant (splice donor variant)	Autosomal recessive congenital ichthyosis 11	GPathogenic
Select item 4039	NM_021978.4(ST14):c.3G>A (p.Met1Ile)	ST14 (M1I)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive congenital ichthyosis 11	GPathogenic
Select item 4038	NM_021978.4(ST14):c.2479G>A (p.Gly827Arg)	ST14 (G827R)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 11	GPathogenic