ClinVar for Gene (Select 204219) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3266331	NM_001378789.1(CERS3):c.329A>G (p.Glu110Gly)	CERS3 (E121G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266330	NM_001378789.1(CERS3):c.502G>T (p.Gly168Cys)	CERS3 (G168C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266329	NM_001378789.1(CERS3):c.995T>C (p.Met332Thr)	CERS3 (M343T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3266327	NM_001378789.1(CERS3):c.296T>G (p.Ile99Ser)	CERS3 (I110S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3242325	GRCh37/hg19 15q26.3(chr15:98615561-102400033)x1	ADAMTS17, ALDH1A3 +19 more	Copy number loss	not provided	GPathogenic
Select item 3143163	NM_001378789.1(CERS3):c.895T>C (p.Phe299Leu)	CERS3 (F299L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3143162	NM_001378789.1(CERS3):c.829A>T (p.Ile277Phe)	CERS3 (I277F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3143161	NM_001378789.1(CERS3):c.557T>C (p.Met186Thr)	CERS3 (M197T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3143160	NM_001378789.1(CERS3):c.452C>T (p.Ala151Val)	CERS3 (A162V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3143159	NM_001378789.1(CERS3):c.398A>G (p.Gln133Arg)	CERS3 (Q133R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3143158	NM_001378789.1(CERS3):c.121G>A (p.Val41Met)	CERS3 (V52M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 3063384	GRCh37/hg19 15q26.1-26.3(chr15:94176550-102429112)x3	ADAMTS17, ALDH1A3 +23 more	Copy number gain	not specified	GPathogenic
Select item 3063383	GRCh37/hg19 15q26.2-26.3(chr15:94300072-101810099)x1	ADAMTS17, ALDH1A3 +16 more	Copy number loss	not specified	GPathogenic
Select item 3063364	GRCh37/hg19 15q26.3(chr15:98679543-102429112)x1	ADAMTS17, ALDH1A3 +19 more	Copy number loss	not specified	GPathogenic
Select item 3042284	NM_001378789.1(CERS3):c.804C>T (p.Ser268=)	CERS3	Single nucleotide variant (synonymous variant)	CERS3-related disorder	GLikely benign
Select item 3032017	NM_001378789.1(CERS3):c.173+9T>C	CERS3	Single nucleotide variant (intron variant)	CERS3-related disorder	GLikely benign
Select item 3030926	NM_001378789.1(CERS3):c.885C>T (p.Leu295=)	CERS3	Single nucleotide variant (synonymous variant)	CERS3-related disorder	GLikely benign
Select item 2958011	NM_001378789.1(CERS3):c.759T>C (p.Tyr253=)	CERS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2691721	NM_001378789.1(CERS3):c.540G>A (p.Trp180Ter)	CERS3 (W180* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 9	GPathogenic
Select item 2671598	Single allele	ADAMTS17, ALDH1A3 +19 more	Deletion	not provided	GPathogenic
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 2606852	NM_001378789.1(CERS3):c.331C>G (p.Arg111Gly)	CERS3 (R111G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2594065	NM_001378789.1(CERS3):c.26T>C (p.Phe9Ser)	CERS3 (F20S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2585612	NM_001378789.1(CERS3):c.632A>T (p.His211Leu)	CERS3 (H222L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 9	GUncertain significance
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2572375	GRCh37/hg19 15q26.3(chr15:99021824-101196161)x1	ADAMTS17, ASB7 +9 more	Copy number loss	See cases	GPathogenic
Select item 2498631	GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3	ABHD2, ACAN +86 more	Copy number gain	not provided	GPathogenic
Select item 2429320	NM_001378789.1(CERS3):c.686G>A (p.Arg229His)	CERS3 (R229H +1 more)	Single nucleotide variant (missense variant)	Lamellar ichthyosis	GPathogenic
Select item 2427278	NC_000015.9:g.(?_100794321)_(100996271_?)dup	ADAMTS17, CERS3	Duplication	not provided	GUncertain significance
Select item 2427277	NC_000015.9:g.(?_100589042)_(100943090_?)dup	ADAMTS17, CERS3	Duplication	not provided	GUncertain significance
Select item 2384435	NM_001378789.1(CERS3):c.289A>C (p.Thr97Pro)	CERS3 (T97P +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 1996888	NM_001378789.1(CERS3):c.662del (p.Phe221fs)	CERS3 (F221fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1809424	GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	ABHD17C, ABHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 1809169	GRCh37/hg19 15q26.3(chr15:100921195-101144913)x3	ASB7, CERS3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1696040	NM_001378789.1(CERS3):c.118T>C (p.Tyr40His)	CERS3 (Y40H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1677076	NC_000015.9:g.(?_100940599)_(101084926_?)dup	CERS3	Duplication	not specified	GUncertain significance
Select item 1633379	NM_001378789.1(CERS3):c.174-19dup	CERS3	Duplication (intron variant)	not provided	GBenign
Select item 1595436	NM_001378789.1(CERS3):c.709G>T (p.Val237Leu)	CERS3 (V237L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 1535544	NM_001378789.1(CERS3):c.845+11C>G	CERS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1526475	GRCh37/hg19 15q26.3(chr15:99258367-102429112)	ADAMTS17, ALDH1A3 +19 more	Copy number loss	not specified	GPathogenic
Select item 1526472	GRCh37/hg19 15q26.2-26.3(chr15:97223728-102429112)	ADAMTS17, ALDH1A3 +21 more	Copy number loss	not specified	GPathogenic
Select item 1526471	GRCh37/hg19 15q26.2-26.3(chr15:97026327-102429112)	ADAMTS17, ALDH1A3 +21 more	Copy number loss	not specified	GPathogenic
Select item 1526470	GRCh37/hg19 15q26.2-26.3(chr15:94836128-101302111)	ADAMTS17, ARRDC4 +13 more	Copy number loss	not specified	GPathogenic
Select item 1451147	NM_001378789.1(CERS3):c.43T>A (p.Trp15Arg)	CERS3 (W26R +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1448913	NC_000015.9:g.(?_98947180)_(101791661_?)dup	ADAMTS17, ALDH1A3 +12 more	Duplication	not provided	GUncertain significance
Select item 1447731	NC_000015.9:g.(?_100739503)_(101042054_?)dup	ADAMTS17, CERS3	Duplication	not provided	GUncertain significance
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 1308549	NM_001378789.1(CERS3):c.685C>A (p.Arg229Ser)	CERS3 (R229S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1298639	NM_001378789.1(CERS3):c.465+2T>G	CERS3	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1295066	NM_001378789.1(CERS3):c.466-181G>C	CERS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295058	NM_001378789.1(CERS3):c.845+202C>T	CERS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288997	NM_001378789.1(CERS3):c.846-144C>T	CERS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283550	NM_001378789.1(CERS3):c.174-81G>A	CERS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282233	NM_001378789.1(CERS3):c.999+21del	CERS3	Deletion (intron variant)	not provided	GBenign
Select item 1281252	NM_001378789.1(CERS3):c.174-306C>T	CERS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281013	NM_001378789.1(CERS3):c.407+305A>G	CERS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280613	NM_001378789.1(CERS3):c.407+74C>T	CERS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278338	NM_001378789.1(CERS3):c.465+65A>T	CERS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278128	NM_001378789.1(CERS3):c.407+309del	CERS3	Deletion (intron variant)	not provided	GBenign
Select item 1273525	NM_001378789.1(CERS3):c.738+6C>T	CERS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272321	NM_001378789.1(CERS3):c.516+104G>A	CERS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271544	NM_001378789.1(CERS3):c.466-136C>A	CERS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270495	NM_001378789.1(CERS3):c.12G>A (p.Thr4=)	CERS3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1270183	NM_001378789.1(CERS3):c.465+221_465+222del	CERS3	Deletion (intron variant)	not provided	GBenign
Select item 1269421	NM_001378789.1(CERS3):c.999+232T>A	CERS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267683	NM_001378789.1(CERS3):c.465+155G>A	CERS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267563	NM_001378789.1(CERS3):c.845+334G>A	CERS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264889	NM_001378789.1(CERS3):c.845+265G>A	CERS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264854	NM_001378789.1(CERS3):c.173+136G>A	CERS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250869	NM_001378789.1(CERS3):c.609+200T>C	CERS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248868	NM_001378789.1(CERS3):c.845+109T>A	CERS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242958	NM_001378789.1(CERS3):c.288+283C>T	CERS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237772	NM_001378789.1(CERS3):c.174-201dup	CERS3	Duplication (intron variant)	not provided	GBenign
Select item 1233487	NM_001378789.1(CERS3):c.465+129C>G	CERS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231685	NM_001378789.1(CERS3):c.738+203C>A	CERS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229863	NM_001378789.1(CERS3):c.134A>G (p.Tyr45Cys)	CERS3 (Y45C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1224186	NM_001378789.1(CERS3):c.466-110G>T	CERS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221617	NM_001378789.1(CERS3):c.999+173T>C	CERS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209733	NM_001378789.1(CERS3):c.159A>G (p.Arg53=)	CERS3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1209732	NM_001378789.1(CERS3):c.845+53C>T	CERS3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1209731	NM_001378789.1(CERS3):c.999+60G>A	CERS3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 1180734	NM_001378789.1(CERS3):c.915C>A (p.Asn305Lys)	CERS3 (N305K +1 more)	Single nucleotide variant (missense variant)	Abnormality of the skin	GLikely pathogenic
Select item 1180727	NM_001378789.1(CERS3):c.223C>T (p.Arg75Ter)	CERS3 (R75* +1 more)	Single nucleotide variant (nonsense)	Abnormality of the skin	GLikely pathogenic
Select item 1180505	GRCh37/hg19 15q26.1-26.3(chr15:92335751-102399741)x1	ADAMTS17, ALDH1A3 +29 more	Copy number loss	not provided	GPathogenic
Select item 1178503	NM_001378789.1(CERS3):c.881A>G (p.His294Arg)	CERS3 (H294R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1077189	Single allele	ADAMTS17, ALDH1A3 +12 more	Deletion	Chromosome 15q26-qter deletion syndrome	GLikely pathogenic
Select item 1012384	GRCh37/hg19 15q26.3(chr15:101031022-101031136)x3	CERS3	Copy number gain	not provided	GLikely pathogenic
Select item 983158	GRCh37/hg19 15q25.3-26.3(chr15:86962053-102531392)x1	ABHD2, ACAN +77 more	Copy number loss	See cases	GPathogenic
Select item 980654	GRCh37/hg19 15q26.3(chr15:100979052-101027710)x1	CERS3	Copy number loss	not provided	GUncertain significance
Select item 980653	GRCh37/hg19 15q26.3(chr15:100853021-102429112)x1	ASB7, CERS3 +12 more	Copy number loss	not provided	GUncertain significance
Select item 980645	GRCh37/hg19 15q26.3(chr15:100740391-101144913)x3	CERS3, LINS1 +2 more	Copy number gain	not provided	GLikely benign

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