ClinVar for MedGen (Select 902464) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2665036	NM_001750.7(CAST):c.1200+911C>A	CAST	Single nucleotide variant (non-coding transcript variant +1 more)	Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome	GUncertain significance
Select item 2665035	NM_001750.7(CAST):c.587G>T (p.Ser196Ile)	CAST (S113I +10 more)	Single nucleotide variant (missense variant +1 more)	Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome	GUncertain significance
Select item 1614516	NM_001750.7(CAST):c.1441G>A (p.Ala481Thr)	CAST (A326T +16 more)	Single nucleotide variant (missense variant +1 more)	Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome +1 more	GBenign
Select item 1192698	NM_001750.7(CAST):c.1525-106G>A	CAST	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1192697	NM_001750.7(CAST):c.1472G>C (p.Cys491Ser)	CAST (C336S +16 more)	Single nucleotide variant (missense variant +1 more)	Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome +1 more	GBenign
Select item 1192696	NM_001750.7(CAST):c.168A>G (p.Gln56=)	CAST	Single nucleotide variant (synonymous variant +1 more)	Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome +1 more	GBenign
Select item 791137	NM_001750.7(CAST):c.1207G>C (p.Ala403Pro)	CAST (A266P +16 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 189336	NM_001750.7(CAST):c.1873del (p.Val625fs)	ERAP1, CAST (V507fs +16 more)	Deletion (3 prime UTR variant +2 more)	Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome	GPathogenic
Select item 189335	NM_001750.7(CAST):c.547A>T (p.Lys183Ter)	CAST (K142* +10 more)	Single nucleotide variant (nonsense)	Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome	GPathogenic
Select item 189334	NM_001750.7(CAST):c.730dup (p.Ile244fs)	CAST (I203fs +11 more)	Duplication (frameshift variant)	Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome	GPathogenic