ClinVar for Gene (Select 344018) - ClinVar

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Links from Gene

Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3095200	NM_001004311.3(FIGLA):c.100T>C (p.Phe34Leu)	FIGLA (F34L)	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 2517073	NM_001004311.3(FIGLA):c.343C>G (p.Gln115Glu)	FIGLA (Q115E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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	DGUOK, EMX1 +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 2345423	NM_001004311.3(FIGLA):c.94G>A (p.Glu32Lys)	FIGLA (E32K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2298400	NM_001004311.3(FIGLA):c.493G>C (p.Gly165Arg)	FIGLA (G165R)	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 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1707458	Single allele	AAK1, ADD2 +107 more	Duplication	not specified	GUncertain significance
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 1294027	NM_001004311.3(FIGLA):c.385-268G>A	FIGLA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292690	NM_001004311.3(FIGLA):c.385-175G>T	FIGLA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291536	NC_000002.12:g.70777097G>A	FIGLA	Single nucleotide variant	not provided	GBenign
Select item 1287456	NC_000002.12:g.70777297del	FIGLA	Deletion	not provided	GBenign
Select item 1285270	NM_001004311.3(FIGLA):c.231+24T>C	FIGLA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1276509	NM_001004311.3(FIGLA):c.609+148T>G	FIGLA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273390	NC_000002.12:g.70777297dup	FIGLA	Duplication	not provided	GBenign
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 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 1253932	NC_000002.12:g.70790960G>A	FIGLA	Single nucleotide variant	not provided	GBenign
Select item 1249892	NM_001004311.3(FIGLA):c.231+211T>C	FIGLA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249607	NM_001004311.3(FIGLA):c.610-285T>C	FIGLA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244778	NM_001004311.3(FIGLA):c.384+55A>G	FIGLA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239158	NC_000002.12:g.70777296_70777297dup	FIGLA	Duplication	not provided	GBenign
Select item 1230947	NC_000002.12:g.70777236A>G	FIGLA	Single nucleotide 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 1223176	NM_001004311.3(FIGLA):c.610-175G>A	FIGLA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220298	NM_001004311.3(FIGLA):c.610-107G>T	FIGLA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207553	NM_001004311.3(FIGLA):c.644+109_644+112del	FIGLA	Deletion (intron variant)	not provided	GLikely benign
Select item 1206576	NM_001004311.3(FIGLA):c.231+71C>T	FIGLA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200839	NM_001004311.3(FIGLA):c.384+173A>G	FIGLA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199013	NC_000002.12:g.70777265G>C	FIGLA	Single nucleotide variant	not provided	GLikely benign
Select item 1183788	NM_001004311.3(FIGLA):c.609+327C>T	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 899337	NM_001004311.3(FIGLA):c.21C>T (p.Val7=)	FIGLA	Single nucleotide variant (synonymous variant)	Premature ovarian failure 6	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 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 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 898226	NM_001004311.3(FIGLA):c.231+15G>A	FIGLA	Single nucleotide variant (intron variant)	Premature ovarian failure 6	GBenign
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 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 896600	NM_001004311.3(FIGLA):c.585A>G (p.Glu195=)	FIGLA	Single nucleotide variant (synonymous variant)	Premature ovarian failure 6	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 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 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 336914	NM_001004311.3(FIGLA):c.84C>A (p.Asp28Glu)	FIGLA (D28E)	Single nucleotide variant (missense variant)	Premature ovarian failure 6	GBenign
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 336912	NM_001004311.3(FIGLA):c.234A>T (p.Ile78=)	FIGLA	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 336910	NM_001004311.3(FIGLA):c.384+11A>G	FIGLA	Single nucleotide variant (intron variant)	Premature ovarian failure 6	GUncertain significance
Select item 336909	NM_001004311.3(FIGLA):c.422G>C (p.Ser141Thr)	FIGLA (S141T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 336907	NM_001004311.3(FIGLA):c.552C>T (p.His184=)	FIGLA	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 336905	NM_001004311.3(FIGLA):c.5_7delinsAGG	FIGLA	Indel (3 prime UTR variant)	Premature ovarian failure	GUncertain significance
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 197699	NM_001004311.3(FIGLA):c.*7A>G	FIGLA	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GBenign
Select item 197698	NM_001004311.3(FIGLA):c.*5T>A	FIGLA	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GBenign
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +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 144474	GRCh38/hg38 2p13.3-13.2(chr2:70709155-72346899)x3	ADD2, ANKRD53 +48 more	Copy number gain	See cases	GUncertain significance
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
Select item 2138	NM_001004311.3(FIGLA):c.416ACA[1] (p.Asn140del)	FIGLA (N140del)	Microsatellite (inframe_deletion)	Premature ovarian failure 6	GPathogenic
Select item 2137	NM_001004311.3(FIGLA):c.15_36del (p.Gly6fs)	FIGLA (G6fs)	Deletion (frameshift variant)	Premature ovarian failure 6	GPathogenic

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Links from Gene

Items: 74