ClinVar for MedGen (Select 224809) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1700248	NM_001127.4(AP1B1):c.2677C>T (p.Gln893Ter)	AP1B1 (Q824* +4 more)	Single nucleotide variant (nonsense)	Autosomal recessive keratitis-ichthyosis-deafness syndrome	GPathogenic
Select item 1700247	NM_001127.4(AP1B1):c.1852C>T (p.Gln618Ter)	AP1B1 (Q618* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive keratitis-ichthyosis-deafness syndrome	GPathogenic
Select item 1700246	NM_001127.4(AP1B1):c.668T>C (p.Leu223Pro)	AP1B1 (L223P +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive keratitis-ichthyosis-deafness syndrome	GPathogenic
Select item 1700245	NM_001127.4(AP1B1):c.322C>T (p.Arg108Trp)	AP1B1 (R108W +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive keratitis-ichthyosis-deafness syndrome	GPathogenic
Select item 1339533	NM_001127.4(AP1B1):c.2T>C (p.Met1Thr)	AP1B1 (M1T)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive keratitis-ichthyosis-deafness syndrome	GLikely pathogenic
Select item 1192402	NM_001127.4(AP1B1):c.204A>G (p.Leu68=)	AP1B1	Single nucleotide variant (synonymous variant)	Autosomal recessive keratitis-ichthyosis-deafness syndrome +1 more	GBenign
Select item 1192401	NM_001127.4(AP1B1):c.2349G>A (p.Ala783=)	AP1B1	Single nucleotide variant (synonymous variant)	Autosomal recessive keratitis-ichthyosis-deafness syndrome +1 more	GBenign
Select item 1048800	NM_001127.4(AP1B1):c.1263C>A (p.Tyr421Ter)	AP1B1 (Y364* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive keratitis-ichthyosis-deafness syndrome	GPathogenic
Select item 805798	NM_001127.4(AP1B1):c.2374G>T (p.Glu792Ter)	AP1B1 (E792* +5 more)	Single nucleotide variant (nonsense)	Autosomal recessive keratitis-ichthyosis-deafness syndrome	GPathogenic
Select item 805797	NM_001127.4(AP1B1):c.2335del (p.Leu779fs)	AP1B1 (L752fs +5 more)	Deletion (frameshift variant)	Autosomal recessive keratitis-ichthyosis-deafness syndrome	GPathogenic
Select item 805796	NM_001127.4(AP1B1):c.430T>C (p.Cys144Arg)	AP1B1 (C144R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive keratitis-ichthyosis-deafness syndrome	GPathogenic
Select item 805795	NM_001127.4(AP1B1):c.38-1G>A	AP1B1	Single nucleotide variant (intron variant +1 more)	Autosomal recessive keratitis-ichthyosis-deafness syndrome	GPathogenic
Select item 805794	NC_000022.10:g.29758984_29815476del	AP1B1	Deletion	Autosomal recessive keratitis-ichthyosis-deafness syndrome	GPathogenic