FNBP4[gene] - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +265 more	Copy number loss	See cases	GPathogenic
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	ACCS, ACCSL +259 more	Copy number loss	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +255 more	Copy number gain	See cases	GLikely pathogenic
Select item 57329	GRCh38/hg38 11p11.2(chr11:46840454-48643003)x1	ACP2, AGBL2 +88 more	Copy number loss	See cases	GPathogenic
Select item 2232688	NM_015308.5(FNBP4):c.2909G>A (p.Arg970Gln)	FNBP4 (R972Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096004	NM_015308.5(FNBP4):c.2801A>G (p.Asp934Gly)	FNBP4 (D934G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494540	NM_015308.5(FNBP4):c.2776G>A (p.Glu926Lys)	FNBP4 (E928K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605957	NM_015308.5(FNBP4):c.2735C>G (p.Pro912Arg)	FNBP4 (P914R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096001	NM_015308.5(FNBP4):c.2719C>A (p.Pro907Thr)	FNBP4 (P909T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331977	NM_015308.5(FNBP4):c.2702C>T (p.Thr901Ile)	FNBP4 (T903I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279391	NM_015308.5(FNBP4):c.2681G>A (p.Arg894Gln)	FNBP4 (R894Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540679	NM_015308.5(FNBP4):c.2641A>G (p.Ile881Val)	FNBP4 (I881V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096000	NM_015308.5(FNBP4):c.2581A>G (p.Asn861Asp)	FNBP4 (N861D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095999	NM_015308.5(FNBP4):c.2546T>C (p.Met849Thr)	FNBP4 (M851T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095998	NM_015308.5(FNBP4):c.2543G>A (p.Gly848Glu)	FNBP4 (G848E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539043	NM_015308.5(FNBP4):c.2521C>T (p.Pro841Ser)	FNBP4 (P843S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2465098	NM_015308.5(FNBP4):c.2504T>C (p.Ile835Thr)	FNBP4 (I835T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533632	NM_015308.5(FNBP4):c.2500G>A (p.Gly834Arg)	FNBP4 (G834R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779199	NM_015308.5(FNBP4):c.2380A>G (p.Thr794Ala)	FNBP4 (T794A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 784520	NM_015308.5(FNBP4):c.2348C>G (p.Ser783Cys)	FNBP4 (S785C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2508336	NM_015308.5(FNBP4):c.2316C>G (p.Ser772Arg)	FNBP4 (S774R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095997	NM_015308.5(FNBP4):c.2315G>A (p.Ser772Asn)	FNBP4 (S774N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776608	NM_015308.5(FNBP4):c.2315G>T (p.Ser772Ile)	FNBP4 (S772I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3095996	NM_015308.5(FNBP4):c.2275A>G (p.Thr759Ala)	FNBP4 (T759A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257102	NM_015308.5(FNBP4):c.2195C>G (p.Ala732Gly)	FNBP4 (A732G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095995	NM_015308.5(FNBP4):c.2171C>T (p.Pro724Leu)	FNBP4 (P724L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736960	NM_015308.5(FNBP4):c.2009-2_2012del	FNBP4	Deletion (splice acceptor variant)	not provided	GLikely benign
Select item 2253754	NM_015308.5(FNBP4):c.1951T>G (p.Leu651Val)	FNBP4 (L651V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553493	NM_015308.5(FNBP4):c.1925G>C (p.Arg642Thr)	FNBP4 (R642T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095994	NM_015308.5(FNBP4):c.1912G>A (p.Ala638Thr)	FNBP4 (A640T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3347580	NM_015308.5(FNBP4):c.1894GAA[3] (p.Glu635del)	FNBP4 (E635del +1 more)	Microsatellite (inframe_deletion)	FNBP4-related disorder	GUncertain significance
Select item 2473760	NM_015308.5(FNBP4):c.1739G>A (p.Arg580Gln)	FNBP4 (R582Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095993	NM_015308.5(FNBP4):c.1549A>C (p.Thr517Pro)	FNBP4 (T517P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621292	NM_015308.5(FNBP4):c.1540G>A (p.Val514Ile)	FNBP4 (V516I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242056	NM_015308.5(FNBP4):c.1523C>T (p.Ser508Phe)	FNBP4 (S510F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 58161	GRCh38/hg38 11p11.2(chr11:47743903-48643003)x3	FNBP4, LOC111464990 +29 more	Copy number gain	See cases	GUncertain significance
Select item 2539108	NM_015308.5(FNBP4):c.1418G>T (p.Ser473Ile)	FNBP4 (S473I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3348844	NM_015308.5(FNBP4):c.1409G>A (p.Arg470Lys)	FNBP4 (R470K +1 more)	Single nucleotide variant (missense variant)	FNBP4-related disorder	GUncertain significance
Select item 2374555	NM_015308.5(FNBP4):c.1127T>C (p.Leu376Ser)	FNBP4 (L378S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773010	NM_015308.5(FNBP4):c.1080A>G (p.Thr360=)	FNBP4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2595220	NM_015308.5(FNBP4):c.1079C>T (p.Thr360Ile)	FNBP4 (T362I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096010	NM_015308.5(FNBP4):c.927G>C (p.Gln309His)	FNBP4 (Q311H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790090	NM_015308.5(FNBP4):c.906+10G>A	FNBP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2589013	NM_015308.5(FNBP4):c.901A>G (p.Lys301Glu)	FNBP4 (K301E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279392	NM_015308.5(FNBP4):c.856G>C (p.Val286Leu)	FNBP4 (V286L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096008	NM_015308.5(FNBP4):c.848C>T (p.Thr283Met)	FNBP4 (T283M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096007	NM_015308.5(FNBP4):c.832T>C (p.Tyr278His)	FNBP4 (Y280H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279394	NM_015308.5(FNBP4):c.831A>G (p.Ile277Met)	FNBP4 (I277M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 770600	NM_015308.5(FNBP4):c.829A>G (p.Ile277Val)	FNBP4 (I279V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 780051	NM_015308.5(FNBP4):c.769C>G (p.Gln257Glu)	FNBP4 (Q259E +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 709285	NM_015308.5(FNBP4):c.684G>T (p.Thr228=)	FNBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 267296	NM_015308.5(FNBP4):c.683C>T (p.Thr228Met)	FNBP4 (T228M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2315332	NM_015308.5(FNBP4):c.622T>G (p.Cys208Gly)	FNBP4 (C208G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245322	NM_015308.5(FNBP4):c.620A>G (p.Gln207Arg)	FNBP4 (Q207R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096006	NM_015308.5(FNBP4):c.524G>A (p.Arg175Gln)	FNBP4 (R175Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710941	NM_015308.5(FNBP4):c.451-9A>G	FNBP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3037014	NM_015308.5(FNBP4):c.450+8G>A	FNBP4	Single nucleotide variant (intron variant)	FNBP4-related disorder	GLikely benign
Select item 770769	NM_015308.5(FNBP4):c.374A>G (p.Glu125Gly)	FNBP4 (E125G +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3096005	NM_015308.5(FNBP4):c.307G>A (p.Ala103Thr)	FNBP4 (A103T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279395	NM_015308.5(FNBP4):c.244G>T (p.Val82Phe)	FNBP4 (V84F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495725	NM_015308.5(FNBP4):c.211C>T (p.Pro71Ser)	FNBP4 (P71S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768446	NM_015308.5(FNBP4):c.166ACC[2] (p.Thr58_Thr59del)	FNBP4	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 3279393	NM_015308.5(FNBP4):c.139A>G (p.Ser47Gly)	FNBP4 (S47G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386069	NM_015308.5(FNBP4):c.104C>A (p.Pro35His)	FNBP4 (P35H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 729687	NM_015308.5(FNBP4):c.78G>T (p.Thr26=)	FNBP4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 712079	NM_015308.5(FNBP4):c.33T>C (p.Arg11=)	FNBP4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2426467	NC_000011.9:g.(?_45827353)_(47804770_?)del	ACP2, AGBL2 +40 more	Deletion	Leukocyte adhesion deficiency type II	GPathogenic
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527642	GRCh37/hg19 11p11.2-11.12(chr11:47711244-48976284)	AGBL2, FNBP4 +8 more	Copy number gain	not specified	GUncertain significance
Select item 1000344	NC_000011.9:g.(?_45827353)_(47804770_?)dup	ARHGAP1, ATG13 +40 more	Duplication	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 563867	GRCh37/hg19 11p11.2-11.12(chr11:47720039-48891877)x3	OR4S1, NUP160 +8 more	Copy number gain	not provided	GLikely benign
Select item 563855	GRCh37/hg19 11p11.2(chr11:47773563-48403235)x3	OR4B1, OR4C3 +6 more	Copy number gain	not provided	GUncertain significance
Select item 442286	GRCh37/hg19 11p11.2-11.12(chr11:47748831-48985791)x3	OR4X2, PTPRJ +7 more	Copy number gain	See cases	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 77