ClinVar for Gene (Select 102723320) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 48

	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 916164	NM_001378789.1(CERS3):c.1027G>A (p.Glu343Lys)	CERS3, CERS3-AS1 (E354K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 722029	NM_001378789.1(CERS3):c.1041GGAAGA[2] (p.Glu354_Glu355del)	CERS3-AS1, CERS3	Microsatellite (inframe_deletion)	not provided	GLikely benign
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 155459	GRCh38/hg38 15q26.3(chr15:98280297-101888909)x3	ADAMTS17, ALDH1A3 +165 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 155109	GRCh38/hg38 15q26.2-26.3(chr15:97681713-101920998)x1	ADAMTS17, ALDH1A3 +179 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 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 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 154512	GRCh38/hg38 15q26.3(chr15:99338283-101843270)x3	ADAMTS17, ALDH1A3 +121 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 152930	GRCh38/hg38 15q26.1-26.3(chr15:93041524-101941326)x3	ADAMTS17, ALDH1A3 +228 more	Copy number gain	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 150870	GRCh38/hg38 15q26.2-26.3(chr15:97941427-101797926)x1	ADAMTS17, ALDH1A3 +171 more	Copy number loss	See cases	GPathogenic
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 148277	GRCh38/hg38 15q26.2-26.3(chr15:97783828-100780256)x3	ADAMTS17, ARRDC4 +111 more	Copy number gain	See cases	GLikely pathogenic
Select item 148189	GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	MIR11181, MIR1179 +517 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 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057943, LOC130057944 +664 more	Copy number gain	See cases	GPathogenic
Select item 146679	GRCh38/hg38 15q26.3(chr15:100194660-101373649)x3	ADAMTS17, ALDH1A3 +69 more	Copy number gain	See cases	GUncertain significance
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	LOC130057907, LOC130057908 +630 more	Copy number gain	See cases	GPathogenic
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC130057997, LOC130057998 +500 more	Copy number gain	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 145641	GRCh38/hg38 15q26.3(chr15:99155987-101843270)x1	ADAMTS17, ALDH1A3 +127 more	Copy number loss	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 59408	GRCh38/hg38 15q26.3(chr15:100222791-101843270)x1	ADAMTS17, ALDH1A3 +84 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 59404	GRCh38/hg38 15q26.2-26.3(chr15:97735430-101810992)x1	ADAMTS17, ALDH1A3 +174 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 59388	GRCh38/hg38 15q26.2-26.3(chr15:96069425-101849578)x1	ADAMTS17, ALDH1A3 +201 more	Copy number loss	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 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	ABHD2, ACAN +611 more	Copy number gain	See cases	GPathogenic
Select item 58224	GRCh38/hg38 15q26.3(chr15:99848343-100704243)x1	ADAMTS17, ASB7 +28 more	Copy number loss	See cases	GUncertain significance
Select item 57195	GRCh38/hg38 15q26.2-26.3(chr15:94033008-101843270)x3	ADAMTS17, ALDH1A3 +218 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 48