CERS3-AS1[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057806, LOC130057807 +1763 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	ABHD17C, ABHD2 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057831, LOC130057832 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	ABHD2, ACAN +630 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	LOC130057938, LOC130057939 +611 more	Copy number gain	See cases	GPathogenic
Select item 153554	GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	ABHD2, ACAN +552 more	Copy number gain	See cases	GPathogenic
Select item 148189	GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	LOC121530602, LOC121530603 +517 more	Copy number gain	See cases	GPathogenic
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC129390732, LOC129390733 +500 more	Copy number gain	See cases	GPathogenic
Select item 58582	GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3	ADAMTS17, ALDH1A3 +422 more	Copy number gain	See cases	GPathogenic
Select item 152930	GRCh38/hg38 15q26.1-26.3(chr15:93041524-101941326)x3	ADAMTS17, ALDH1A3 +228 more	Copy number gain	See cases	GPathogenic
Select item 144251	GRCh38/hg38 15q26.1-26.3(chr15:93198717-101843270)x1	LYSMD4, MCTP2 +224 more	Copy number loss	See cases	GPathogenic
Select item 155620	GRCh38/hg38 15q26.2-26.3(chr15:93805032-101326876)x1	ADAMTS17, ALDH1A3 +205 more	Copy number loss	See cases	GPathogenic
Select item 57195	GRCh38/hg38 15q26.2-26.3(chr15:94033008-101843270)x3	ADAMTS17, ALDH1A3 +218 more	Copy number gain	See cases	GPathogenic
Select item 147708	GRCh38/hg38 15q26.2-26.3(chr15:95770627-101810992)x1	ADAMTS17, ALDH1A3 +202 more	Copy number loss	See cases	GPathogenic
Select item 155021	GRCh38/hg38 15q26.2-26.3(chr15:96024127-101920998)x1	ADAMTS17, ALDH1A3 +203 more	Copy number loss	See cases	GPathogenic
Select item 59388	GRCh38/hg38 15q26.2-26.3(chr15:96069425-101849578)x1	ADAMTS17, ALDH1A3 +201 more	Copy number loss	See cases	GPathogenic
Select item 59402	GRCh38/hg38 15q26.2-26.3(chr15:96329791-101849578)x1	ADAMTS17, ALDH1A3 +195 more	Copy number loss	See cases	GPathogenic
Select item 146071	GRCh38/hg38 15q26.2-26.3(chr15:97014065-101843270)x1	ADAMTS17, ALDH1A3 +184 more	Copy number loss	See cases	GPathogenic
Select item 152750	GRCh38/hg38 15q26.2-26.3(chr15:97172754-101920998)x1	ADAMTS17, ALDH1A3 +185 more	Copy number loss	See cases	GPathogenic
Select item 151982	GRCh38/hg38 15q26.2-26.3(chr15:97283711-101920998)x3	ADAMTS17, ALDH1A3 +184 more	Copy number gain	See cases	GLikely pathogenic
Select item 155109	GRCh38/hg38 15q26.2-26.3(chr15:97681713-101920998)x1	ADAMTS17, ALDH1A3 +179 more	Copy number loss	See cases	GPathogenic
Select item 59404	GRCh38/hg38 15q26.2-26.3(chr15:97735430-101810992)x1	ADAMTS17, ALDH1A3 +174 more	Copy number loss	See cases	GPathogenic
Select item 148277	GRCh38/hg38 15q26.2-26.3(chr15:97783828-100780256)x3	ADAMTS17, ARRDC4 +111 more	Copy number gain	See cases	GLikely pathogenic
Select item 150870	GRCh38/hg38 15q26.2-26.3(chr15:97941427-101797926)x1	ADAMTS17, ALDH1A3 +171 more	Copy number loss	See cases	GPathogenic
Select item 155459	GRCh38/hg38 15q26.3(chr15:98280297-101888909)x3	ADAMTS17, ALDH1A3 +165 more	Copy number gain	See cases	GPathogenic
Select item 154661	GRCh38/hg38 15q26.3(chr15:98467297-101843270)x1	ADAMTS17, ALDH1A3 +159 more	Copy number loss	See cases	GPathogenic
Select item 59405	GRCh38/hg38 15q26.3(chr15:98845807-101843270)x1	LOC130058070, LOC130058071 +148 more	Copy number loss	See cases	GPathogenic
Select item 145641	GRCh38/hg38 15q26.3(chr15:99155987-101843270)x1	ADAMTS17, ALDH1A3 +127 more	Copy number loss	See cases	GPathogenic
Select item 154512	GRCh38/hg38 15q26.3(chr15:99338283-101843270)x3	ADAMTS17, ALDH1A3 +121 more	Copy number gain	See cases	GPathogenic
Select item 155270	GRCh38/hg38 15q26.3(chr15:99710106-100472153)x3	ADAMTS17, CERS3 +25 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 58224	GRCh38/hg38 15q26.3(chr15:99848343-100704243)x1	ADAMTS17, ASB7 +28 more	Copy number loss	See cases	GUncertain significance
Select item 148703	GRCh38/hg38 15q26.3(chr15:100083510-100383629)x1	ADAMTS17, CERS3-AS1 +9 more	Copy number loss	See cases	GUncertain significance
Select item 146679	GRCh38/hg38 15q26.3(chr15:100194660-101373649)x3	ADAMTS17, ALDH1A3 +69 more	Copy number gain	See cases	GUncertain significance
Select item 59408	GRCh38/hg38 15q26.3(chr15:100222791-101843270)x1	ADAMTS17, ALDH1A3 +84 more	Copy number loss	See cases	GPathogenic
Select item 1209729	NM_001378789.1(CERS3):c.*75C>A	CERS3, CERS3-AS1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
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 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 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 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 1331428	NM_001378789.1(CERS3):c.1102G>A (p.Gly368Ser)	CERS3, CERS3-AS1 (G368S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 722029	NM_001378789.1(CERS3):c.1041GGAAGA[2] (p.Glu354_Glu355del)	CERS3, CERS3-AS1	Microsatellite (inframe_deletion)	not provided	GLikely benign
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 2018095	NM_001378789.1(CERS3):c.1026C>T (p.Asp342=)	CERS3-AS1, CERS3	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 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 2105035	NM_001378789.1(CERS3):c.1000-1G>A	CERS3, CERS3-AS1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
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

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Items: 48