ClinVar for Gene (Select 54475) - ClinVar

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Links from Gene

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3299944	NM_018096.5(NLE1):c.1127A>T (p.Asn376Ile)	NLE1 (N376I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299943	NM_018096.5(NLE1):c.455G>T (p.Cys152Phe)	NLE1 (C152F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3299942	NM_018096.5(NLE1):c.1153C>T (p.Arg385Cys)	NLE1 (R385C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299941	NM_018096.5(NLE1):c.1208C>T (p.Thr403Met)	NLE1 (T111M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279431	NM_017559.4(FNDC8):c.634C>T (p.Leu212Phe)	FNDC8, NLE1 (L212F)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3243216	NC_000017.10:g.(?_32908096)_(33513578_?)dup	CCT6B, FNDC8 +7 more	Duplication	not provided	GUncertain significance
Select item 3243102	NC_000017.10:g.(?_33445500)_(34079869_?)del	AP2B1, FNDC8 +13 more	Deletion	Peroxisome biogenesis disorder 3A (Zellweger)	GPathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3200409	NM_018096.5(NLE1):c.904C>T (p.Arg302Cys)	NLE1 (R10C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200408	NM_018096.5(NLE1):c.485T>C (p.Ile162Thr)	NLE1 (I162T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3200407	NM_018096.5(NLE1):c.46C>T (p.Arg16Trp)	NLE1 (R16W)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3200406	NM_018096.5(NLE1):c.389C>T (p.Ala130Val)	NLE1 (A130V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3200405	NM_018096.5(NLE1):c.208G>A (p.Val70Ile)	NLE1 (V70I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3200404	NM_018096.5(NLE1):c.181G>A (p.Ala61Thr)	NLE1 (A61T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3200403	NM_018096.5(NLE1):c.1350G>A (p.Met450Ile)	NLE1 (M158I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200402	NM_018096.5(NLE1):c.1277G>A (p.Ser426Asn)	NLE1 (S426N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200401	NM_018096.5(NLE1):c.1159G>A (p.Val387Met)	NLE1 (V387M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200400	NM_018096.5(NLE1):c.1100G>A (p.Arg367Gln)	NLE1 (R75Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096117	NM_017559.4(FNDC8):c.955G>A (p.Glu319Lys)	FNDC8, NLE1 (E319K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3096116	NM_017559.4(FNDC8):c.889C>G (p.Arg297Gly)	FNDC8, NLE1 (R297G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3096115	NM_017559.4(FNDC8):c.796G>A (p.Val266Met)	FNDC8, NLE1 (V266M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3096114	NM_017559.4(FNDC8):c.679G>A (p.Glu227Lys)	FNDC8, NLE1 (E227K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3063495	GRCh37/hg19 17q12(chr17:33316754-33890206)x1	FNDC8, LIG3 +11 more	Copy number loss	not specified	GUncertain significance
Select item 2647661	NM_018096.5(NLE1):c.828C>T (p.Asp276=)	NLE1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2613702	NM_018096.5(NLE1):c.416G>A (p.Arg139His)	NLE1 (R139H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2574697	GRCh37/hg19 17q11.2-12(chr17:30572862-35843988)	AATF, ACACA +66 more	Copy number loss	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 2557555	NM_018096.5(NLE1):c.11C>T (p.Ala4Val)	NLE1 (A4V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535655	NM_017559.4(FNDC8):c.620T>G (p.Val207Gly)	FNDC8, NLE1 (V207G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2487054	NM_018096.5(NLE1):c.569A>G (p.Gln190Arg)	NLE1 (Q190R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2472959	NM_018096.5(NLE1):c.415C>T (p.Arg139Cys)	NLE1 (R139C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2454563	NM_017559.4(FNDC8):c.922G>A (p.Gly308Arg)	FNDC8, NLE1 (G308R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2400283	NM_018096.5(NLE1):c.1349T>C (p.Met450Thr)	NLE1 (M450T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2396778	NM_018096.5(NLE1):c.1327G>A (p.Val443Met)	NLE1 (V151M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392527	NM_017559.4(FNDC8):c.919A>G (p.Ile307Val)	FNDC8, NLE1 (I307V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2389001	NM_018096.5(NLE1):c.709C>T (p.Arg237Cys)	NLE1 (R237C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2377992	NM_017559.4(FNDC8):c.902G>A (p.Arg301Gln)	FNDC8, NLE1 (R301Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2376309	NM_018096.5(NLE1):c.1154G>A (p.Arg385His)	NLE1 (R385H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366636	NM_018096.5(NLE1):c.1060T>C (p.Phe354Leu)	NLE1 (F354L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337036	NM_018096.5(NLE1):c.275A>G (p.Tyr92Cys)	NLE1 (Y92C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2260120	NM_018096.5(NLE1):c.1198G>C (p.Asp400His)	NLE1 (D108H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257599	NM_018096.5(NLE1):c.1127A>G (p.Asn376Ser)	NLE1 (N84S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243584	NM_018096.5(NLE1):c.1190A>T (p.Lys397Met)	NLE1 (K105M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241444	NM_018096.5(NLE1):c.824A>T (p.His275Leu)	NLE1 (H275L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2236276	NM_018096.5(NLE1):c.1454G>A (p.Arg485Lys)	NLE1 (R193K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233295	NM_017559.4(FNDC8):c.839C>T (p.Thr280Ile)	FNDC8, NLE1 (T280I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2224677	NM_017559.4(FNDC8):c.785A>G (p.Asn262Ser)	FNDC8, NLE1 (N262S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2210839	NM_018096.5(NLE1):c.1058T>C (p.Leu353Ser)	NLE1 (L353S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208530	NM_018096.5(NLE1):c.649C>A (p.Arg217Ser)	NLE1 (R217S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 815928	GRCh37/hg19 17q12(chr17:33073917-33863479)x1	CCT6B, FNDC8 +12 more	Copy number loss	not provided	GUncertain significance
Select item 786649	NM_018096.5(NLE1):c.108C>T (p.Pro36=)	NLE1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 635886	Single allele	ASIC2, CCL1 +16 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 564429	GRCh37/hg19 17q12(chr17:32351496-34455576)x1	AP2B1, ASIC2 +40 more	Copy number loss	not provided	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 147860	GRCh38/hg38 17q12(chr17:35129859-35767049)x3	AP2B1, C17orf50 +46 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 56