Related gene-specific medical variations for Gene (Select 204219) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2645745	NM_001378789.1(CERS3):c.1143T>C (p.His381=)	CERS3, CERS3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2596279	NM_001378789.1(CERS3):c.1120C>T (p.His374Tyr)	CERS3, CERS3-AS1 (H374Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312245	NM_001378789.1(CERS3):c.1023T>A (p.Asp341Glu)	CERS3, CERS3-AS1 (D341E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2164562	NM_001378789.1(CERS3):c.1107_1108inv (p.Arg370Gly)	CERS3, CERS3-AS1 (R370G +1 more)	Inversion (missense variant)	not provided	GUncertain significance
Select item 2105035	NM_001378789.1(CERS3):c.1000-1G>A	CERS3, CERS3-AS1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2018095	NM_001378789.1(CERS3):c.1026C>T (p.Asp342=)	CERS3, CERS3-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1570405	NM_001378789.1(CERS3):c.1025A>G (p.Asp342Gly)	CERS3, CERS3-AS1 (D342G +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1331428	NM_001378789.1(CERS3):c.1102G>A (p.Gly368Ser)	CERS3, CERS3-AS1 (G368S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 1012384	GRCh37/hg19 15q26.3(chr15:101031022-101031136)x3	CERS3	Copy number gain	not provided	GLikely pathogenic
Select item 980654	GRCh37/hg19 15q26.3(chr15:100979052-101027710)x1	CERS3	Copy number loss	not provided	GUncertain significance
Select item 916164	NM_001378789.1(CERS3):c.1027G>A (p.Glu343Lys)	CERS3, CERS3-AS1 (E354K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 768728	NM_001378789.1(CERS3):c.1118G>A (p.Arg373Lys)	CERS3, CERS3-AS1 (R373K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 722029	NM_001378789.1(CERS3):c.1041GGAAGA[2] (p.Glu354_Glu355del)	CERS3-AS1, CERS3	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 686196	GRCh37/hg19 15q26.3(chr15:101061066-101081879)x1	CERS3	Copy number loss	not provided	GPathogenic
Select item 161842	NM_001378789.1(CERS3):c.609+7G>T	CERS3	Single nucleotide variant (intron variant)	Malignant tumor of prostate	GUncertain significance