FIGLA[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 1707458	Single allele	AAK1, ADD2 +107 more	Duplication	not specified	GUncertain significance
Select item 144474	GRCh38/hg38 2p13.3-13.2(chr2:70709155-72346899)x3	ADD2, ANKRD53 +48 more	Copy number gain	See cases	GUncertain significance
Select item 1291536	NC_000002.12:g.70777097G>A	FIGLA	Single nucleotide variant	not provided	GBenign
Select item 1230947	NC_000002.12:g.70777236A>G	FIGLA	Single nucleotide variant	not provided	GBenign
Select item 1199013	NC_000002.12:g.70777265G>C	FIGLA	Single nucleotide variant	not provided	GLikely benign
Select item 1273390	NC_000002.12:g.70777297dup	FIGLA	Duplication	not provided	GBenign
Select item 1239158	NC_000002.12:g.70777296_70777297dup	FIGLA	Duplication	not provided	GBenign
Select item 1287456	NC_000002.12:g.70777297del	FIGLA	Deletion	not provided	GBenign
Select item 336904	NM_001004311.3(FIGLA):c.*53A>C	FIGLA	Single nucleotide variant (3 prime UTR variant)	Premature ovarian failure 6	GBenign
Select item 336905	NM_001004311.3(FIGLA):c.5_7delinsAGG	FIGLA	Indel (3 prime UTR variant)	Premature ovarian failure	GUncertain significance
Select item 197699	NM_001004311.3(FIGLA):c.*7A>G	FIGLA	Single nucleotide variant (3 prime UTR variant)	Premature ovarian failure 6 +2 more	GBenign
Select item 197698	NM_001004311.3(FIGLA):c.*5T>A	FIGLA	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 3278877	NM_001004311.3(FIGLA):c.646C>T (p.Leu216Phe)	FIGLA (L216F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1207553	NM_001004311.3(FIGLA):c.644+109_644+112del	FIGLA	Deletion (intron variant)	not provided	GLikely benign
Select item 895185	NM_001004311.3(FIGLA):c.625G>A (p.Val209Ile)	FIGLA (V209I)	Single nucleotide variant (missense variant)	Premature ovarian failure 6	GBenign
Select item 1220298	NM_001004311.3(FIGLA):c.610-107G>T	FIGLA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1223176	NM_001004311.3(FIGLA):c.610-175G>A	FIGLA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249607	NM_001004311.3(FIGLA):c.610-285T>C	FIGLA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183680	NM_001004311.3(FIGLA):c.610-298G>C	FIGLA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183788	NM_001004311.3(FIGLA):c.609+327C>T	FIGLA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227028	NM_001004311.3(FIGLA):c.609+202A>C	FIGLA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276509	NM_001004311.3(FIGLA):c.609+148T>G	FIGLA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 896600	NM_001004311.3(FIGLA):c.585A>G (p.Glu195=)	FIGLA	Single nucleotide variant (synonymous variant)	Premature ovarian failure 6	GLikely benign
Select item 336906	NM_001004311.3(FIGLA):c.566G>A (p.Ser189Asn)	FIGLA (S189N)	Single nucleotide variant (missense variant)	Premature ovarian failure 6	GUncertain significance
Select item 336907	NM_001004311.3(FIGLA):c.552C>T (p.His184=)	FIGLA	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2298400	NM_001004311.3(FIGLA):c.493G>C (p.Gly165Arg)	FIGLA (G165R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619735	NM_001004311.3(FIGLA):c.491T>G (p.Phe164Cys)	FIGLA (F164C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 336908	NM_001004311.3(FIGLA):c.443C>T (p.Ser148Leu)	FIGLA (S148L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3095202	NM_001004311.3(FIGLA):c.427G>A (p.Glu143Lys)	FIGLA (E143K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 336909	NM_001004311.3(FIGLA):c.422G>C (p.Ser141Thr)	FIGLA (S141T)	Single nucleotide variant (missense variant)	Premature ovarian failure 6 +1 more	GBenign
Select item 2138	NM_001004311.3(FIGLA):c.416ACA[1] (p.Asn140del)	FIGLA (N140del)	Microsatellite (inframe_deletion)	Premature ovarian failure 6	GPathogenic
Select item 1292690	NM_001004311.3(FIGLA):c.385-175G>T	FIGLA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294027	NM_001004311.3(FIGLA):c.385-268G>A	FIGLA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200839	NM_001004311.3(FIGLA):c.384+173A>G	FIGLA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244778	NM_001004311.3(FIGLA):c.384+55A>G	FIGLA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 336910	NM_001004311.3(FIGLA):c.384+11A>G	FIGLA	Single nucleotide variant (intron variant)	Premature ovarian failure 6	GUncertain significance
Select item 2517073	NM_001004311.3(FIGLA):c.343C>G (p.Gln115Glu)	FIGLA (Q115E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1256037	NM_001004311.3(FIGLA):c.326G>A (p.Gly109Asp)	FIGLA (G109D)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 1256003	NM_001004311.3(FIGLA):c.319C>T (p.Leu107Phe)	FIGLA (L107F)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 898224	NM_001004311.3(FIGLA):c.277C>A (p.Pro93Thr)	FIGLA (P93T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 336911	NM_001004311.3(FIGLA):c.248G>A (p.Arg83His)	FIGLA (R83H)	Single nucleotide variant (missense variant)	Premature ovarian failure 6	GLikely benign
Select item 898225	NM_001004311.3(FIGLA):c.247C>T (p.Arg83Cys)	FIGLA (R83C)	Single nucleotide variant (missense variant)	Premature ovarian failure 6	GUncertain significance
Select item 336912	NM_001004311.3(FIGLA):c.234A>T (p.Ile78=)	FIGLA	Single nucleotide variant (synonymous variant)	Premature ovarian failure 6 +1 more	GBenign
Select item 1249892	NM_001004311.3(FIGLA):c.231+211T>C	FIGLA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206576	NM_001004311.3(FIGLA):c.231+71C>T	FIGLA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1285270	NM_001004311.3(FIGLA):c.231+24T>C	FIGLA	Single nucleotide variant (intron variant)	Premature ovarian failure 6 +1 more	GBenign
Select item 898226	NM_001004311.3(FIGLA):c.231+15G>A	FIGLA	Single nucleotide variant (intron variant)	Premature ovarian failure 6	GBenign
Select item 2339949	NM_001004311.3(FIGLA):c.163T>C (p.Ser55Pro)	FIGLA (S55P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 336913	NM_001004311.3(FIGLA):c.154G>A (p.Gly52Ser)	FIGLA (G52S)	Single nucleotide variant (missense variant)	Premature ovarian failure 6	GUncertain significance
Select item 3369805	NM_001004311.3(FIGLA):c.127G>C (p.Val43Leu)	FIGLA (V43L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3095200	NM_001004311.3(FIGLA):c.100T>C (p.Phe34Leu)	FIGLA (F34L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282979	NM_001004311.3(FIGLA):c.99G>T (p.Gln33His)	FIGLA (Q33H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345423	NM_001004311.3(FIGLA):c.94G>A (p.Glu32Lys)	FIGLA (E32K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 336914	NM_001004311.3(FIGLA):c.84C>A (p.Asp28Glu)	FIGLA (D28E)	Single nucleotide variant (missense variant)	Premature ovarian failure 6	GBenign
Select item 2511970	NM_001004311.3(FIGLA):c.82G>A (p.Asp28Asn)	FIGLA (D28N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 898227	NM_001004311.3(FIGLA):c.73G>A (p.Val25Met)	FIGLA (V25M)	Single nucleotide variant (missense variant)	Premature ovarian failure 6	GUncertain significance
Select item 2137	NM_001004311.3(FIGLA):c.15_36del (p.Gly6fs)	FIGLA (G6fs)	Deletion (frameshift variant)	Premature ovarian failure 6	GPathogenic
Select item 899335	NM_001004311.3(FIGLA):c.29C>A (p.Pro10His)	FIGLA (P10H)	Single nucleotide variant (missense variant)	Premature ovarian failure 6 +1 more	GUncertain significance
Select item 899336	NM_001004311.3(FIGLA):c.28C>T (p.Pro10Ser)	FIGLA (P10S)	Single nucleotide variant (missense variant)	Premature ovarian failure 6 +1 more	GUncertain significance
Select item 899337	NM_001004311.3(FIGLA):c.21C>T (p.Val7=)	FIGLA	Single nucleotide variant (synonymous variant)	Premature ovarian failure 6	GUncertain significance
Select item 1256046	NM_001004311.3(FIGLA):c.11C>A (p.Ala4Glu)	FIGLA (A4E)	Single nucleotide variant (missense variant)	Premature ovarian failure 6	GUncertain significance
Select item 635131	NM_001004311.3(FIGLA):c.2T>C (p.Met1Thr)	FIGLA (M1T)	Single nucleotide variant (missense variant +1 more)	Premature ovarian failure 6	GPathogenic
Select item 1253932	NC_000002.12:g.70790960G>A	FIGLA	Single nucleotide variant	not provided	GBenign
Select item 2498868	GRCh37/hg19 2p14-13.3(chr2:65296579-71305638)x1	AAK1, ACTR2 +43 more	Copy number loss	not provided	GUncertain significance
Select item 2427025	NC_000002.11:g.(?_69240632)_(74779761_?)dup	AAK1, ACTG2 +72 more	Duplication	not provided	GUncertain significance
Select item 2424629	NC_000002.11:g.(?_71004499)_(74779761_?)del	ACTG2, ALMS1 +55 more	Deletion	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GPathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 137379	NM_001004311.3:c.+7A>G	FIGLA	Single nucleotide variant	not provided	GBenign
Select item 137378	NM_001004311.3:c.+5T>A	FIGLA	Single nucleotide variant	not provided	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 76