ClinVar for Gene (Select 54752) - ClinVar

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Links from Gene

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2603682	NM_017559.4(FNDC8):c.514T>A (p.Ser172Thr)	FNDC8 (S172T)	Single nucleotide variant (missense variant)	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 2548769	NM_017559.4(FNDC8):c.503C>T (p.Thr168Met)	FNDC8 (T168M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544465	NM_017559.4(FNDC8):c.545C>G (p.Pro182Arg)	FNDC8 (P182R)	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 2495236	NM_017559.4(FNDC8):c.314C>G (p.Pro105Arg)	FNDC8 (P105R)	Single nucleotide variant (missense variant)	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 2411755	NM_017559.4(FNDC8):c.187G>A (p.Glu63Lys)	FNDC8 (E63K)	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 2387464	NM_017559.4(FNDC8):c.407C>T (p.Ala136Val)	FNDC8 (A136V)	Single nucleotide variant (missense variant)	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 2376580	NM_017559.4(FNDC8):c.133G>A (p.Val45Ile)	FNDC8 (V45I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368272	NM_017559.4(FNDC8):c.65T>G (p.Phe22Cys)	FNDC8 (F22C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352515	NM_017559.4(FNDC8):c.376A>G (p.Met126Val)	FNDC8 (M126V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2328665	NM_017559.4(FNDC8):c.28G>A (p.Gly10Arg)	FNDC8 (G10R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315371	NM_017559.4(FNDC8):c.74T>C (p.Met25Thr)	FNDC8 (M25T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302242	NM_017559.4(FNDC8):c.473A>G (p.Asn158Ser)	FNDC8 (N158S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285297	NM_017559.4(FNDC8):c.290C>G (p.Pro97Arg)	FNDC8 (P97R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277208	NM_017559.4(FNDC8):c.436T>A (p.Ser146Thr)	FNDC8 (S146T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261242	NM_017559.4(FNDC8):c.455G>A (p.Gly152Asp)	FNDC8 (G152D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258461	NM_017559.4(FNDC8):c.400G>A (p.Asp134Asn)	FNDC8 (D134N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252906	NM_017559.4(FNDC8):c.560A>G (p.His187Arg)	FNDC8 (H187R)	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 815928	GRCh37/hg19 17q12(chr17:33073917-33863479)x1	CCT6B, FNDC8 +12 more	Copy number loss	not provided	GUncertain significance
Select item 803388	NM_017559.4(FNDC8):c.121A>G (p.Met41Val)	FNDC8 (M41V)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 4	GUncertain significance
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	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 371892	NM_001142571.2(RAD51D):c.-279_-275del	RAD51L3-RFFL, FNDC8 +2 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 4	GUncertain significance
Select item 147860	GRCh38/hg38 17q12(chr17:35129859-35767049)x3	AP2B1, C17orf50 +46 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 40