OXER1[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933242, LOC129933243 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 59144	GRCh38/hg38 2p21(chr2:41999414-42915744)x3	OXER1, PKDCC +53 more	Copy number gain	See cases	GPathogenic
Select item 2461415	NM_148962.5(OXER1):c.1085C>T (p.Ala362Val)	OXER1 (A362V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2454904	NM_148962.5(OXER1):c.1070A>C (p.Glu357Ala)	OXER1 (E357A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388235	NM_148962.5(OXER1):c.1061G>A (p.Arg354His)	OXER1 (R354H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396604	NM_148962.5(OXER1):c.1060C>T (p.Arg354Cys)	OXER1 (R354C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569822	NM_148962.5(OXER1):c.1030G>A (p.Glu344Lys)	OXER1 (E344K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375271	NM_148962.5(OXER1):c.1027G>A (p.Asp343Asn)	OXER1 (D343N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341898	NM_148962.5(OXER1):c.1003C>T (p.Arg335Trp)	OXER1 (R335W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611525	NM_148962.5(OXER1):c.1001C>A (p.Thr334Lys)	OXER1 (T334K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455112	NM_148962.5(OXER1):c.1001C>T (p.Thr334Met)	OXER1 (T334M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 787227	NM_148962.5(OXER1):c.986C>T (p.Ala329Val)	OXER1 (A368V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2373844	NM_148962.5(OXER1):c.965A>G (p.Asn322Ser)	OXER1 (N322S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 790817	NM_148962.5(OXER1):c.883A>C (p.Thr295Pro)	OXER1 (T334P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2279927	NM_148962.5(OXER1):c.880T>C (p.Cys294Arg)	OXER1 (C294R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225371	NM_148962.5(OXER1):c.829A>G (p.Met277Val)	OXER1 (M277V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 791116	NM_148962.5(OXER1):c.825T>C (p.Phe275=)	OXER1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2219077	NM_148962.5(OXER1):c.739G>A (p.Gly247Arg)	OXER1 (G247R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364289	NM_148962.5(OXER1):c.728G>A (p.Arg243His)	OXER1 (R243H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224855	NM_148962.5(OXER1):c.629C>T (p.Ser210Leu)	OXER1 (S210L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310978	NM_148962.5(OXER1):c.581C>G (p.Ser194Cys)	OXER1 (S194C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386864	NM_148962.5(OXER1):c.557G>A (p.Gly186Glu)	OXER1 (G186E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346331	NM_148962.5(OXER1):c.490C>T (p.Arg164Cys)	OXER1 (R164C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396197	NM_148962.5(OXER1):c.481G>A (p.Val161Met)	OXER1 (V161M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369468	NM_148962.5(OXER1):c.477C>A (p.His159Gln)	OXER1 (H159Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536371	NM_148962.5(OXER1):c.400T>C (p.Ser134Pro)	OXER1 (S134P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255976	NM_148962.5(OXER1):c.370G>A (p.Ala124Thr)	OXER1 (A124T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2510933	NM_148962.5(OXER1):c.359G>A (p.Arg120His)	OXER1 (R120H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292352	NM_148962.5(OXER1):c.337T>C (p.Tyr113His)	OXER1 (Y113H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390527	NM_148962.5(OXER1):c.265A>G (p.Thr89Ala)	OXER1 (T89A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594212	NM_148962.5(OXER1):c.253T>C (p.Trp85Arg)	OXER1 (W85R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359181	NM_148962.5(OXER1):c.247C>T (p.Arg83Trp)	OXER1 (R83W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492756	NM_148962.5(OXER1):c.239T>C (p.Ile80Thr)	OXER1 (I80T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329073	NM_148962.5(OXER1):c.230T>C (p.Ile77Thr)	OXER1 (I77T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340739	NM_148962.5(OXER1):c.77C>T (p.Pro26Leu)	OXER1 (P26L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607381	NM_148962.5(OXER1):c.43T>A (p.Ser15Thr)	OXER1 (S15T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366603	NM_148962.5(OXER1):c.-66C>G	OXER1	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 2517307	NM_148962.4(OXER1):c.22C>A (p.Gln8Lys)	OXER1 (Q8K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541444	NM_148962.4(OXER1):c.13C>T (p.Arg5Cys)	OXER1 (R5C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2422665	NC_000002.11:g.(?_38121051)_(47710088_?)dup	ABCG5, ABCG8 +52 more	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	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 1526452	GRCh37/hg19 2p22.1-21(chr2:39751028-43437611)	COX7A2L, EML4 +9 more	Copy number loss	not specified	GUncertain significance
Select item 1220534	GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3	OTOF, OXER1 +131 more	Copy number gain	See cases	GPathogenic
Select item 1176757	GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3	GALNT14, GAREM2 +131 more	Copy number gain	not provided	GLikely pathogenic
Select item 562680	GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3	ABCG5, ABCG8 +100 more	Copy number gain	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 429039	NC_000002.11:g.38121110_47669522inv	EPCAM, MCFD2 +52 more	Inversion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 402127	GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3	ABCG5, ABCG8 +139 more	Copy number gain	See cases	GPathogenic
Select item 394466	GRCh37/hg19 2p23.2-21(chr2:28069882-43543420)x3	ALK, ARHGEF33 +70 more	Copy number gain	See cases	GPathogenic

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Items: 55