FNDC3B[gene] - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937944, LOC129937945 +630 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LINC00578, LINC00880 +1317 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	PAK2, PARL +1246 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	LOC129937828, LOC129937829 +1244 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC129938023, LOC129938024 +1200 more	Copy number gain	See cases	GPathogenic
Select item 57993	GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3	ACTRT3, ARL14 +303 more	Copy number gain	See cases	GPathogenic
Select item 150519	GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3	LOC129389166, LOC129389167 +306 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	ABCC5, ABCC5-AS1 +1064 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	ABCC5, ABCC5-AS1 +1041 more	Copy number gain	See cases	GPathogenic
Select item 155535	GRCh38/hg38 3q26.31(chr3:171960150-172473569)x1	FNDC3B, GHSR +17 more	Copy number loss	See cases	GLikely pathogenic
Select item 154453	GRCh38/hg38 3q26.31(chr3:171968610-173131280)x1	ECT2, FNDC3B +35 more	Copy number loss	See cases	GLikely pathogenic
Select item 2318285	NM_022763.4(FNDC3B):c.424T>C (p.Tyr142His)	FNDC3B (Y142H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376783	NM_022763.4(FNDC3B):c.494T>C (p.Ile165Thr)	FNDC3B (I165T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3060403	NM_022763.4(FNDC3B):c.536C>G (p.Thr179Ser)	FNDC3B (T179S)	Single nucleotide variant (missense variant)	FNDC3B-related condition	GBenign
Select item 2468810	NM_022763.4(FNDC3B):c.674A>G (p.Tyr225Cys)	FNDC3B (Y225C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588377	NM_022763.4(FNDC3B):c.685C>T (p.His229Tyr)	FNDC3B (H229Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3056937	NM_022763.4(FNDC3B):c.687T>C (p.His229=)	FNDC3B	Single nucleotide variant (synonymous variant)	FNDC3B-related condition	GBenign
Select item 2266920	NM_022763.4(FNDC3B):c.688A>G (p.Ser230Gly)	FNDC3B (S230G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398296	NM_022763.4(FNDC3B):c.770C>T (p.Ser257Leu)	FNDC3B (S257L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3044133	NM_022763.4(FNDC3B):c.771G>C (p.Ser257=)	FNDC3B	Single nucleotide variant (synonymous variant)	FNDC3B-related condition	GBenign
Select item 2356987	NM_022763.4(FNDC3B):c.956C>T (p.Ala319Val)	FNDC3B (A319V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292991	NM_022763.4(FNDC3B):c.1084G>A (p.Val362Ile)	FNDC3B (V362I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 773705	NM_022763.4(FNDC3B):c.1137C>T (p.Pro379=)	FNDC3B	Single nucleotide variant (synonymous variant)	FNDC3B-related condition +1 more	GBenign
Select item 3039307	NM_022763.4(FNDC3B):c.1354G>T (p.Ala452Ser)	FNDC3B (A452S)	Single nucleotide variant (missense variant)	FNDC3B-related condition	GBenign
Select item 3059521	NM_022763.4(FNDC3B):c.1374T>C (p.Gly458=)	FNDC3B	Single nucleotide variant (synonymous variant)	FNDC3B-related condition	GBenign
Select item 2495509	NM_022763.4(FNDC3B):c.1553A>G (p.Asn518Ser)	FNDC3B (N518S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2654279	NM_022763.4(FNDC3B):c.1698G>A (p.Thr566=)	FNDC3B	Single nucleotide variant (synonymous variant)	FNDC3B-related condition +1 more	GLikely benign
Select item 2376072	NM_022763.4(FNDC3B):c.1769G>C (p.Ser590Thr)	FNDC3B (S590T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596473	NM_022763.4(FNDC3B):c.1792G>T (p.Asp598Tyr)	FNDC3B (D598Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568823	NM_022763.4(FNDC3B):c.1898C>T (p.Thr633Ile)	FNDC3B (T633I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 782437	NM_022763.4(FNDC3B):c.1971+10G>A	FNDC3B	Single nucleotide variant (intron variant)	FNDC3B-related condition +1 more	GBenign
Select item 2525606	NM_022763.4(FNDC3B):c.2083C>G (p.Pro695Ala)	FNDC3B (P695A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492599	NM_022763.4(FNDC3B):c.2171C>T (p.Pro724Leu)	FNDC3B (P724L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509967	NM_022763.4(FNDC3B):c.2188G>A (p.Val730Ile)	FNDC3B (V730I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570267	NM_022763.4(FNDC3B):c.2212G>A (p.Val738Met)	FNDC3B (V738M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311973	NM_022763.4(FNDC3B):c.2224C>T (p.Arg742Trp)	FNDC3B (R742W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358211	NM_022763.4(FNDC3B):c.2314G>A (p.Ala772Thr)	FNDC3B (A772T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375131	NM_022763.4(FNDC3B):c.2333C>T (p.Thr778Ile)	FNDC3B (T778I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286439	NM_022763.4(FNDC3B):c.2366G>A (p.Ser789Asn)	FNDC3B (S789N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3038802	NM_022763.4(FNDC3B):c.2511A>G (p.Leu837=)	FNDC3B	Single nucleotide variant (synonymous variant)	FNDC3B-related condition	GLikely benign
Select item 2228021	NM_022763.4(FNDC3B):c.2533G>A (p.Ala845Thr)	FNDC3B (A845T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370957	NM_022763.4(FNDC3B):c.2567C>T (p.Thr856Met)	FNDC3B (T856M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3045374	NM_022763.4(FNDC3B):c.2568G>T (p.Thr856=)	FNDC3B	Single nucleotide variant (synonymous variant)	FNDC3B-related condition	GLikely benign
Select item 3042904	NM_022763.4(FNDC3B):c.2590G>A (p.Val864Ile)	FNDC3B (V864I)	Single nucleotide variant (missense variant)	FNDC3B-related condition	GBenign
Select item 2382544	NM_022763.4(FNDC3B):c.2731A>T (p.Ser911Cys)	FNDC3B (S911C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 718734	NM_022763.4(FNDC3B):c.2967G>C (p.Glu989Asp)	FNDC3B (E989D)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2456939	NM_022763.4(FNDC3B):c.3155G>A (p.Ser1052Asn)	FNDC3B (S1052N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349299	NM_022763.4(FNDC3B):c.3389G>A (p.Arg1130His)	FNDC3B (R1130H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387024	NM_022763.4(FNDC3B):c.3445G>A (p.Val1149Ile)	FNDC3B (V1149I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522580	NM_022763.4(FNDC3B):c.3507G>A (p.Met1169Ile)	FNDC3B (M1169I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295117	NM_022763.4(FNDC3B):c.3569T>C (p.Leu1190Ser)	FNDC3B (L1190S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268895	NM_022763.4(FNDC3B):c.3607A>G (p.Met1203Val)	FNDC3B (M1203V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2685937	GRCh37/hg19 3q26.31(chr3:171835889-173764343)x3	ECT2, FNDC3B +5 more	Copy number gain	not provided	GUncertain significance
Select item 2671595	Single allele	AADAC, AADACL2 +286 more	Duplication	not provided	GPathogenic
Select item 2422930	NC_000003.11:g.(?_168802697)_(172835521_?)dup	ACTRT3, CLDN11 +25 more	Duplication	Fanconi-Bickel syndrome	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1527050	GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)	ACTL6A, ACTRT3 +79 more	Copy number gain	not specified	GPathogenic
Select item 1340561	GRCh37/hg19 3q26.2-26.33(chr3:168118411-179867071)x3	ACTL6A, ACTRT3 +40 more	Copy number gain	not provided	GLikely pathogenic
Select item 814497	GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3	FXR1, HTR3D +113 more	Copy number gain	not provided	GPathogenic
Select item 687021	GRCh37/hg19 3q26.31(chr3:172095903-173254604)x3	ECT2, FNDC3B +5 more	Copy number gain	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442066	GRCh37/hg19 3q26.31(chr3:171519792-172052769)x3	FNDC3B, PLD1 +1 more	Copy number gain	See cases	GLikely benign
Select item 441683	GRCh37/hg19 3q26.31(chr3:171622716-171968102)x1	FNDC3B	Copy number loss	See cases	GLikely pathogenic
Select item 394385	GRCh37/hg19 3q26.31(chr3:171852267-172413810)x3	FNDC3B, GHSR +2 more	Copy number gain	See cases	GUncertain significance
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	ABCC5, ABCF3 +198 more	Copy number gain	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	PTX3, MIR1224 +220 more	Copy number gain	See cases	GPathogenic
Select item 221435	GRCh37/hg19 3q26.31(chr3:172003745-172520446)x3	ECT2, FNDC3B +3 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 72