NR2E1[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC126859762, LOC126859763 +460 more	Copy number loss	See cases	GPathogenic
Select item 145430	GRCh38/hg38 6q16.3-21(chr6:102356502-111049879)x1	AFG1L, AK9 +208 more	Copy number loss	See cases	GPathogenic
Select item 154178	GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1	AFG1L, AK9 +297 more	Copy number loss	See cases	GPathogenic
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 148944	GRCh38/hg38 6q21-22.1(chr6:107370141-115827482)x1	AFG1L, AK9 +224 more	Copy number loss	See cases	GPathogenic
Select item 152877	GRCh38/hg38 6q21(chr6:107445281-110547907)x1	AFG1L, AK9 +104 more	Copy number loss	See cases	GPathogenic
Select item 3044705	NM_003269.5(NR2E1):c.12A>G (p.Pro4=)	NR2E1	Single nucleotide variant (synonymous variant)	NR2E1-related disorder	GLikely benign
Select item 3040587	NM_003269.5(NR2E1):c.25+1341A>T	NR2E1	Single nucleotide variant (synonymous variant +1 more)	NR2E1-related disorder	GLikely benign
Select item 3350631	NM_003269.5(NR2E1):c.111A>G (p.Ser37=)	NR2E1	Single nucleotide variant (synonymous variant)	NR2E1-related disorder	GLikely benign
Select item 2599634	NM_003269.5(NR2E1):c.169C>G (p.Gln57Glu)	NR2E1 (Q94E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201920	NM_003269.5(NR2E1):c.245A>G (p.Asn82Ser)	NR2E1 (N82S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053203	NM_003269.5(NR2E1):c.279G>A (p.Gly93=)	NR2E1	Single nucleotide variant (synonymous variant)	NR2E1-related disorder	GLikely benign
Select item 3058415	NM_003269.5(NR2E1):c.336G>A (p.Glu112=)	NR2E1	Single nucleotide variant (synonymous variant)	NR2E1-related disorder	GLikely benign
Select item 2457438	NM_003269.5(NR2E1):c.364T>C (p.Ser122Pro)	NR2E1 (S159P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313657	NM_003269.5(NR2E1):c.393C>G (p.Phe131Leu)	NR2E1 (F131L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292815	NM_003269.5(NR2E1):c.406C>G (p.Gln136Glu)	NR2E1 (Q136E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048773	NM_003269.5(NR2E1):c.496-3C>T	NR2E1	Single nucleotide variant (intron variant)	NR2E1-related disorder	GBenign
Select item 2478278	NM_003269.5(NR2E1):c.768G>C (p.Gln256His)	NR2E1 (Q293H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335735	NM_003269.5(NR2E1):c.785T>C (p.Ile262Thr)	NR2E1 (I262T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238586	NM_003269.5(NR2E1):c.874G>A (p.Val292Ile)	NR2E1 (V329I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201921	NM_003269.5(NR2E1):c.926G>A (p.Arg309Gln)	NR2E1 (R309Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532057	NM_003269.5(NR2E1):c.937G>A (p.Ala313Thr)	NR2E1 (A313T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494100	NM_003269.5(NR2E1):c.971C>T (p.Thr324Met)	NR2E1 (T324M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532850	NM_003269.5(NR2E1):c.1003A>G (p.Thr335Ala)	NR2E1 (T372A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300943	NM_003269.5(NR2E1):c.1102G>A (p.Gly368Ser)	NR2E1 (G368S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062920	GRCh37/hg19 6q21(chr6:107876812-109065741)x3	AFG1L, FOXO3 +6 more	Copy number gain	not specified	GUncertain significance
Select item 2685211	GRCh37/hg19 6q15-21(chr6:92468126-109410569)x1	AFG1L, ARMC2 +43 more	Copy number loss	not provided	GPathogenic
Select item 2425984	NC_000006.11:g.(?_107019871)_(110266416_?)del	AFG1L, AK9 +21 more	Deletion	not provided	GUncertain significance
Select item 1809181	GRCh37/hg19 6q21(chr6:108195840-108498389)x3	NR2E1, OSTM1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1808464	GRCh37/hg19 6q21(chr6:108189941-108498389)x3	NR2E1, OSTM1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1527275	GRCh37/hg19 6q21(chr6:107446437-108543388)	NR2E1, OSTM1 +5 more	Copy number gain	not specified	GUncertain significance
Select item 1527266	GRCh37/hg19 6q15-22.2(chr6:92054891-118329651)	AFG1L, AK9 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	AFG1L, AK9 +138 more	Copy number loss	not specified	GPathogenic
Select item 981211	GRCh37/hg19 6q16.1-21(chr6:98949950-114533905)x1	PREP, QRSL1 +66 more	Copy number loss	Deletion 6q16 q21	GPathogenic
Select item 974790	GRCh37/hg19 6q16.3-22.1(chr6:101296547-117004249)x3	DSE, FAM229B +69 more	Copy number gain	Microcephaly +1 more	GPathogenic
Select item 563217	GRCh37/hg19 6q21(chr6:108325097-108908760)x1	OSTM1, FOXO3 +3 more	Copy number loss	not provided	GUncertain significance
Select item 563204	GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1	AFG1L, AK9 +80 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443296	GRCh37/hg19 6q16.1-21(chr6:94202605-109878834)x1	ZBTB24, AFG1L +49 more	Copy number loss	See cases	GPathogenic
Select item 442063	GRCh37/hg19 6q16.1-21(chr6:97384446-110247755)x1	AFG1L, AK9 +44 more	Copy number loss	See cases	GPathogenic
Select item 254002	GRCh37/hg19 6q21(chr6:108278386-108831557)x3	SNX3, NR2E1 +3 more	Copy number gain	See cases	GUncertain significance

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Items: 44