LOC130005443[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154432	GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1	ABTB2, ANO3 +283 more	Copy number loss	See cases	GPathogenic
Select item 148783	GRCh38/hg38 11p15.1-14.2(chr11:21838014-26738627)x3	LOC126861164, LOC126861165 +49 more	Copy number gain	See cases	GUncertain significance
Select item 58857	GRCh38/hg38 11p14.3(chr11:22115602-25375696)x1	ANO5, CCDC179 +38 more	Copy number loss	See cases	GPathogenic
Select item 152043	GRCh38/hg38 11p14.3(chr11:22195749-22953436)x1	ANO5, CCDC179 +21 more	Copy number loss	See cases	GUncertain significance
Select item 560110	Single allele	ANO5, FANCF +11 more	Deletion	not provided	GUncertain significance
Select item 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	PAX6_HS3, PAX6_HS8 +334 more	Copy number loss	See cases	GPathogenic
Select item 417422	NC_000011.9:g.(?_22644079)_(22647387_?)dup	FANCF, LOC130005443 +1 more	Duplication	Fanconi anemia	GUncertain significance
Select item 847575	NM_022725.4(FANCF):c.1089A>C (p.Gln363His)	FANCF, LOC130005443 (Q363H)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 418190	NM_022725.4(FANCF):c.1087C>T (p.Gln363Ter)	FANCF, LOC130005443 (Q363*)	Single nucleotide variant (nonsense)	Fanconi anemia +3 more	GUncertain significance
Select item 1484711	NM_022725.4(FANCF):c.1082A>G (p.Lys361Arg)	FANCF, LOC130005443 (K361R)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1476107	NM_022725.4(FANCF):c.1078A>G (p.Arg360Gly)	FANCF, LOC130005443 (R360G)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 877894	NM_022725.4(FANCF):c.1064G>A (p.Arg355His)	FANCF, LOC130005443 (R355H)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F +1 more	GUncertain significance
Select item 877895	NM_022725.4(FANCF):c.1063C>T (p.Arg355Cys)	FANCF, LOC130005443 (R355C)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F	GUncertain significance
Select item 1505132	NM_022725.4(FANCF):c.1060C>T (p.Leu354Phe)	FANCF, LOC130005443 (L354F)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1691923	NM_022725.4(FANCF):c.1056A>C (p.Leu352Phe)	FANCF, LOC130005443 (L352F)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1540138	NM_022725.4(FANCF):c.1054T>C (p.Leu352=)	FANCF, LOC130005443	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2086639	NM_022725.4(FANCF):c.1048C>A (p.Leu350Ile)	FANCF, LOC130005443 (L350I)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1424808	NM_022725.4(FANCF):c.1048C>T (p.Leu350Phe)	FANCF, LOC130005443 (L350F)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1538244	NM_022725.4(FANCF):c.1044A>G (p.Thr348=)	FANCF, LOC130005443	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1419669	NM_022725.4(FANCF):c.1041G>A (p.Trp347Ter)	FANCF, LOC130005443 (W347*)	Single nucleotide variant (nonsense)	Fanconi anemia	GUncertain significance
Select item 134352	NM_022725.4(FANCF):c.1041G>T (p.Trp347Cys)	FANCF, LOC130005443 (W347C)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 1931738	NM_022725.4(FANCF):c.1038C>T (p.Ile346=)	FANCF, LOC130005443	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 526437	NM_022725.4(FANCF):c.1035C>T (p.Ser345=)	FANCF, LOC130005443	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1144741	NM_022725.4(FANCF):c.1026T>C (p.Pro342=)	FANCF, LOC130005443	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2060679	NM_022725.4(FANCF):c.1025C>T (p.Pro342Leu)	FANCF, LOC130005443 (P342L)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1691922	NM_022725.4(FANCF):c.1020A>G (p.Glu340=)	FANCF, LOC130005443	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3241589	NM_022725.4(FANCF):c.1018G>T (p.Glu340Ter)	FANCF, LOC130005443 (E340*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group F	GLikely pathogenic
Select item 1475306	NM_022725.4(FANCF):c.1012G>A (p.Asp338Asn)	FANCF, LOC130005443 (D338N)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2641689	NM_022725.4(FANCF):c.1011A>G (p.Gly337=)	FANCF, LOC130005443	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1480002	NM_022725.4(FANCF):c.1007A>G (p.Asp336Gly)	FANCF, LOC130005443 (D336G)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 304200	NM_022725.4(FANCF):c.1006G>A (p.Asp336Asn)	FANCF, LOC130005443 (D336N)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F	GUncertain significance
Select item 1097610	NM_022725.4(FANCF):c.1002G>C (p.Ala334=)	FANCF, LOC130005443	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1374883	NM_022725.4(FANCF):c.1001C>T (p.Ala334Val)	FANCF, LOC130005443 (A334V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2139815	NM_022725.4(FANCF):c.994T>C (p.Cys332Arg)	FANCF, LOC130005443 (C332R)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1897754	NM_022725.4(FANCF):c.993C>A (p.Thr331=)	FANCF, LOC130005443	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 526462	NM_022725.4(FANCF):c.993C>G (p.Thr331=)	FANCF, LOC130005443	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1053615	NM_022725.4(FANCF):c.992C>T (p.Thr331Ile)	FANCF, LOC130005443 (T331I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1663445	NM_022725.4(FANCF):c.987G>C (p.Leu329=)	FANCF, LOC130005443	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 859048	NM_022725.4(FANCF):c.986T>C (p.Leu329Pro)	FANCF, LOC130005443 (L329P)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1649765	NM_022725.4(FANCF):c.984C>T (p.Ala328=)	FANCF, LOC130005443	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 878061	NM_022725.4(FANCF):c.970A>G (p.Lys324Glu)	FANCF, LOC130005443 (K324E)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F +1 more	GConflicting classifications of pathogenicity
Select item 134351	NM_022725.4(FANCF):c.959C>T (p.Pro320Leu)	FANCF, LOC130005443 (P320L)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 134350	NM_022725.4(FANCF):c.955C>T (p.Pro319Ser)	FANCF, LOC130005443 (P319S)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 2000810	NM_022725.4(FANCF):c.952C>G (p.Pro318Ala)	FANCF, LOC130005443 (P318A)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1376822	NM_022725.4(FANCF):c.952C>T (p.Pro318Ser)	FANCF, LOC130005443 (P318S)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 666159	NM_022725.4(FANCF):c.943dup (p.Cys315fs)	FANCF, LOC130005443 (C315fs)	Duplication (frameshift variant)	Fanconi anemia complementation group F +1 more	GConflicting classifications of pathogenicity
Select item 1349302	NM_022725.4(FANCF):c.940C>T (p.Leu314Phe)	FANCF, LOC130005443 (L314F)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance

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Items: 47