SLC35E4[gene] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067187, LOC130067188 +556 more	Copy number gain	See cases	GPathogenic
Select item 155348	GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1	AP1B1, ASCC2 +260 more	Copy number loss	See cases	GPathogenic
Select item 57002	GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3	AP1B1, ASCC2 +307 more	Copy number gain	See cases	GPathogenic
Select item 149559	GRCh38/hg38 22q12.2(chr22:30312256-30950316)x3	CCDC157, DUSP18 +54 more	Copy number gain	See cases	GUncertain significance
Select item 3164401	NM_001001479.4(SLC35E4):c.19G>C (p.Glu7Gln)	SLC35E4 (E7Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322767	NM_001001479.4(SLC35E4):c.38T>A (p.Met13Lys)	SLC35E4 (M13K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319613	NM_001001479.4(SLC35E4):c.41C>T (p.Thr14Ile)	SLC35E4 (T14I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164402	NM_001001479.4(SLC35E4):c.53T>C (p.Val18Ala)	SLC35E4 (V18A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2332915	NM_001001479.4(SLC35E4):c.58G>A (p.Ala20Thr)	SLC35E4 (A20T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332916	NM_001001479.4(SLC35E4):c.59C>A (p.Ala20Glu)	SLC35E4 (A20E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319615	NM_001001479.4(SLC35E4):c.130C>G (p.Pro44Ala)	SLC35E4 (P44A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338558	NM_001001479.4(SLC35E4):c.143G>A (p.Arg48Gln)	SLC35E4 (R48Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216998	NM_001001479.4(SLC35E4):c.256C>A (p.His86Asn)	SLC35E4 (H86N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319614	NM_001001479.4(SLC35E4):c.311G>A (p.Gly104Asp)	SLC35E4 (G104D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217484	NM_001001479.4(SLC35E4):c.326G>T (p.Arg109Leu)	SLC35E4 (R109L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484943	NM_001001479.4(SLC35E4):c.431C>T (p.Pro144Leu)	SLC35E4 (P144L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589858	NM_001001479.4(SLC35E4):c.437T>C (p.Phe146Ser)	SLC35E4 (F146S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400773	NM_001001479.4(SLC35E4):c.489G>T (p.Gln163His)	SLC35E4 (Q163H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354518	NM_001001479.4(SLC35E4):c.667G>A (p.Ala223Thr)	SLC35E4 (A223T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528189	NM_001001479.4(SLC35E4):c.698C>A (p.Ala233Glu)	SLC35E4 (A233E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342594	NM_001001479.4(SLC35E4):c.737C>T (p.Pro246Leu)	SLC35E4 (P246L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164403	NM_001001479.4(SLC35E4):c.785G>A (p.Cys262Tyr)	SLC35E4 (C262Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164404	NM_001001479.4(SLC35E4):c.793T>G (p.Ser265Ala)	SLC35E4 (S265A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164405	NM_001001479.4(SLC35E4):c.829G>T (p.Ala277Ser)	SLC35E4 (A277S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319096	NM_001001479.4(SLC35E4):c.836C>T (p.Thr279Ile)	SLC35E4 (T279I)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 3164406	NM_001001479.4(SLC35E4):c.868C>T (p.Leu290Phe)	SLC35E4 (L290F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399959	NM_001001479.4(SLC35E4):c.874G>A (p.Val292Met)	SLC35E4 (V292M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164407	NM_001001479.4(SLC35E4):c.898C>T (p.Arg300Trp)	SLC35E4 (R300W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243054	NM_001001479.4(SLC35E4):c.899G>A (p.Arg300Gln)	SLC35E4 (R300Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164408	NM_001001479.4(SLC35E4):c.937G>A (p.Val313Met)	SLC35E4 (V313M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319611	NM_001001479.4(SLC35E4):c.966G>A (p.Met322Ile)	SLC35E4 (M322I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568647	NM_001001479.4(SLC35E4):c.1003G>A (p.Ala335Thr)	SLC35E4 (A335T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164400	NM_001001479.4(SLC35E4):c.1006G>A (p.Ala336Thr)	SLC35E4 (A336T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332467	NM_152511.5(DUSP18):c.563T>C (p.Leu188Pro)	DUSP18, SLC35E4 (L188P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2342867	NM_152511.5(DUSP18):c.547C>T (p.Arg183Cys)	DUSP18, SLC35E4 (R183C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2411946	NM_152511.5(DUSP18):c.533A>G (p.Tyr178Cys)	DUSP18, SLC35E4 (Y178C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2344377	NM_152511.5(DUSP18):c.493C>T (p.His165Tyr)	DUSP18, SLC35E4 (H165Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2398268	NM_152511.5(DUSP18):c.487A>G (p.Thr163Ala)	DUSP18, SLC35E4 (T163A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2322025	NM_152511.5(DUSP18):c.425G>A (p.Arg142Gln)	DUSP18, SLC35E4 (R142Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3086286	NM_152511.5(DUSP18):c.412C>T (p.Arg138Trp)	DUSP18, SLC35E4 (R138W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511008	NM_152511.5(DUSP18):c.302T>G (p.Leu101Trp)	DUSP18, SLC35E4 (L101W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357904	NM_152511.5(DUSP18):c.296G>A (p.Arg99His)	DUSP18, SLC35E4 (R99H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2294449	NM_152511.5(DUSP18):c.235C>G (p.Leu79Val)	DUSP18, SLC35E4 (L79V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086285	NM_152511.5(DUSP18):c.232C>T (p.Arg78Cys)	DUSP18, SLC35E4 (R78C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458664	NM_152511.5(DUSP18):c.221C>T (p.Ser74Phe)	DUSP18, SLC35E4 (S74F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324253	NM_152511.5(DUSP18):c.202C>G (p.Gln68Glu)	DUSP18, SLC35E4 (Q68E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274053	NM_152511.5(DUSP18):c.199A>G (p.Met67Val)	DUSP18, SLC35E4 (M67V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3274052	NM_152511.5(DUSP18):c.152A>G (p.Asn51Ser)	DUSP18, SLC35E4 (N51S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522497	NM_152511.5(DUSP18):c.134A>G (p.Gln45Arg)	DUSP18, SLC35E4 (Q45R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364191	NM_152511.5(DUSP18):c.37C>T (p.Arg13Trp)	DUSP18, SLC35E4 (R13W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600451	NM_152511.5(DUSP18):c.17G>A (p.Cys6Tyr)	DUSP18, SLC35E4 (C6Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247176	NM_152511.5(DUSP18):c.14C>T (p.Ser5Leu)	DUSP18, SLC35E4 (S5L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808303	GRCh37/hg19 22q12.2(chr22:30649178-31035087)x3	CASTOR1, CCDC157 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1466555	NC_000022.10:g.(?_29083885)_(34046674_?)dup	AP1B1, ASCC2 +71 more	Duplication	not provided	GUncertain significance
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 634999	inv(22)(q12.2q12.2)	NEFH, PIK3IP1 +42 more	Inversion	Anaplastic ependymoma	GLikely pathogenic
Select item 565055	GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3	ADORA2A, AP1B1 +129 more	Copy number gain	not provided	GPathogenic
Select item 565022	GRCh37/hg19 22q12.2(chr22:29644625-31051719)x1	AP1B1, ASCC2 +32 more	Copy number loss	not provided	GPathogenic
Select item 564994	GRCh37/hg19 22q12.2(chr22:30902886-31260395)x3	GAL3ST1, DUSP18 +5 more	Copy number gain	not provided	GUncertain significance
Select item 442415	GRCh37/hg19 22q12.1-12.3(chr22:28349854-33013062)x3	DEPDC5, DRG1 +70 more	Copy number gain	See cases	GLikely pathogenic
Select item 441826	GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3	ADORA2A, AP1B1 +131 more	Copy number gain	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 394679	GRCh37/hg19 22q12.2(chr22:31032078-31095882)x3	DUSP18, OSBP2 +1 more	Copy number gain	See cases	GUncertain significance
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic

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Items: 73