ClinVar for MedGen (Select 767263) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3576922	NM_001378789.1(CERS3):c.303_304dup (p.Leu102fs)	CERS3 (L113fs +1 more)	Duplication (frameshift variant)	Autosomal recessive congenital ichthyosis 9	GLikely pathogenic
Select item 3576921	NM_001378789.1(CERS3):c.466-1G>T	CERS3	Single nucleotide variant (splice acceptor variant)	Autosomal recessive congenital ichthyosis 9	GLikely pathogenic
Select item 3576920	NM_001378789.1(CERS3):c.565del (p.Tyr189fs)	CERS3 (Y200fs +1 more)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 9	GLikely pathogenic
Select item 3576919	NM_001378789.1(CERS3):c.873del (p.Met292fs)	CERS3 (M292fs +1 more)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 9	GLikely pathogenic
Select item 3068609	NM_001378789.1(CERS3):c.1000-85C>A	CERS3, CERS3-AS1	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 9	GUncertain significance
Select item 2691721	NM_001378789.1(CERS3):c.540G>A (p.Trp180Ter)	CERS3 (W180* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 9	GPathogenic
Select item 2585612	NM_001378789.1(CERS3):c.632A>T (p.His211Leu)	CERS3 (H222L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 9	GUncertain significance
Select item 1209733	NM_001378789.1(CERS3):c.159A>G (p.Arg53=)	CERS3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1209732	NM_001378789.1(CERS3):c.845+53C>T	CERS3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1209731	NM_001378789.1(CERS3):c.999+60G>A	CERS3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1209730	NM_001378789.1(CERS3):c.1108A>G (p.Arg370Gly)	CERS3, CERS3-AS1 (R370G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1209729	NM_001378789.1(CERS3):c.*75C>A	CERS3, CERS3-AS1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 9 +1 more	GBenign
Select item 1180727	NM_001378789.1(CERS3):c.223C>T (p.Arg75Ter)	CERS3 (R75* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 9 +1 more	GLikely pathogenic
Select item 804475	NM_001378789.1(CERS3):c.46del (p.Leu16fs)	CERS3 (L16fs +1 more)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 9	GLikely pathogenic
Select item 800985	NM_001378789.1(CERS3):c.530C>T (p.Ser177Phe)	CERS3 (S177F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 64621	NM_001378789.1(CERS3):c.43T>C (p.Trp15Arg)	CERS3 (W15R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 9	GPathogenic
Select item 55838	NM_001378789.1(CERS3):c.609+1G>T	CERS3	Single nucleotide variant (splice donor variant)	Ichthyosis	GLikely pathogenic