CERS6[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 more	Copy number loss	See cases	GPathogenic
Select item 60249	GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1	LOC129935070, LOC129935071 +162 more	Copy number loss	See cases	GPathogenic
Select item 57491	GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1	ABCB11, ATF2 +269 more	Copy number loss	See cases	GPathogenic
Select item 154807	GRCh38/hg38 2q24.3(chr2:167995450-168840081)x3	CERS6, CERS6-AS1 +23 more	Copy number gain	See cases	GLikely benign
Select item 2208783	NM_203463.3(CERS6):c.30C>A (p.Asn10Lys)	CERS6 (N10K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397464	NM_203463.3(CERS6):c.53A>G (p.Asn18Ser)	CERS6 (N18S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590084	NM_203463.3(CERS6):c.171A>G (p.Arg57=)	CERS6	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3143185	NM_203463.3(CERS6):c.181A>G (p.Lys61Glu)	CERS6 (K61E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143186	NM_203463.3(CERS6):c.185C>G (p.Pro62Arg)	CERS6 (P62R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143187	NM_203463.3(CERS6):c.233C>T (p.Pro78Leu)	CERS6 (P78L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366774	NM_203463.3(CERS6):c.427C>T (p.Leu143Phe)	CERS6 (L143F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393122	NM_203463.3(CERS6):c.485C>T (p.Thr162Met)	CERS6 (T162M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556591	NM_203463.3(CERS6):c.598A>G (p.Ile200Val)	CERS6 (I200V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143188	NM_203463.3(CERS6):c.617G>T (p.Gly206Val)	CERS6 (G206V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769263	NM_203463.3(CERS6):c.618C>T (p.Gly206=)	CERS6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2301447	NM_203463.3(CERS6):c.637C>G (p.Leu213Val)	CERS6 (L213V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780837	NM_203463.3(CERS6):c.709C>G (p.Leu237Val)	CERS6 (L237V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2358658	NM_203463.3(CERS6):c.805G>A (p.Val269Met)	CERS6 (V269M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2526525	NM_203463.3(CERS6):c.883G>A (p.Val295Ile)	CERS6 (V295I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 755924	NM_203463.3(CERS6):c.916C>T (p.Leu306=)	CERS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3143189	NM_203463.3(CERS6):c.977C>T (p.Ala326Val)	CERS6 (A326V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143184	NM_203463.3(CERS6):c.1093A>C (p.Thr365Pro)	CERS6 (T365P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062662	GRCh37/hg19 2q24.3-31.1(chr2:165813403-169865235)x1	ABCB11, B3GALT1 +14 more	Copy number loss	not specified	GPathogenic
Select item 3062617	GRCh37/hg19 2q24.2-31.1(chr2:162692199-174452488)x1	ABCB11, B3GALT1 +57 more	Copy number loss	not specified	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1339653	GRCh37/hg19 2q24.2-31.1(chr2:160347642-174075851)x1	METTL8, PSMD14 +67 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 981210	GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1	ABCB11, AGPS +97 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 687517	GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	ABCB11, AGPS +125 more	Copy number loss	not provided	GPathogenic
Select item 493569	GRCh37/hg19 2q24.3-31.1(chr2:165173620-169779326)x1	CSRNP3, G6PC2 +16 more	Copy number loss	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442551	GRCh37/hg19 2q24.3(chr2:166374955-169671203)x1	B3GALT1, CERS6 +9 more	Copy number loss	See cases	GPathogenic
Select item 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic
Select item 187824	GRCh37/hg19 2q24.3-31.1(chr2:167996718-170671886)x1	CERS6, SSB +17 more	Copy number loss	See cases	GLikely pathogenic

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Items: 36