FOXA2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 59196	GRCh38/hg38 20p11.22-q11.1(chr20:22061586-30285812)x3	ABHD12, ACSS1 +174 more	Copy number gain	See cases	GPathogenic
Select item 1338703	NM_021784.5(FOXA2):c.*6C>T	FOXA2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 2295118	NM_021784.5(FOXA2):c.1387T>C (p.Ser463Pro)	FOXA2 (S457P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1971143	NM_021784.5(FOXA2):c.1372C>A (p.Pro458Thr)	FOXA2 (P458T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1492754	NM_021784.5(FOXA2):c.1370G>A (p.Arg457Gln)	FOXA2 (R451Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3356852	NM_021784.5(FOXA2):c.1358G>A (p.Gly453Glu)	FOXA2 (G447E +1 more)	Single nucleotide variant (missense variant)	FOXA2-related disorder	GUncertain significance
Select item 1467399	NM_021784.5(FOXA2):c.1349A>T (p.Tyr450Phe)	FOXA2 (Y444F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2283866	NM_021784.5(FOXA2):c.1337C>G (p.Ala446Gly)	FOXA2 (A440G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3279493	NM_021784.5(FOXA2):c.1336G>T (p.Ala446Ser)	FOXA2 (A440S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2090246	NM_021784.5(FOXA2):c.1310C>T (p.Thr437Met)	FOXA2 (T431M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3279492	NM_021784.5(FOXA2):c.1304A>G (p.Asn435Ser)	FOXA2 (N429S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1920659	NM_021784.5(FOXA2):c.1302G>C (p.Thr434=)	FOXA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1543591	NM_021784.5(FOXA2):c.1293C>A (p.Gly431=)	FOXA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3279487	NM_021784.5(FOXA2):c.1290G>A (p.Met430Ile)	FOXA2 (M424I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 769996	NM_021784.5(FOXA2):c.1273C>A (p.Pro425Thr)	FOXA2 (P425T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2299558	NM_021784.5(FOXA2):c.1247A>C (p.His416Pro)	FOXA2 (H410P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2372260	NM_021784.5(FOXA2):c.1229C>T (p.Ala410Val)	FOXA2 (A410V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1300560	NM_021784.5(FOXA2):c.1206A>G (p.Gln402=)	FOXA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2689085	NM_021784.5(FOXA2):c.1119A>C (p.Glu373Asp)	FOXA2 (E367D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2030270	NM_021784.5(FOXA2):c.1118A>T (p.Glu373Val)	FOXA2 (E367V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3096243	NM_021784.5(FOXA2):c.1108C>A (p.Leu370Met)	FOXA2 (L364M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096242	NM_021784.5(FOXA2):c.1100A>C (p.Glu367Ala)	FOXA2 (E361A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217278	NM_021784.5(FOXA2):c.1073C>A (p.Pro358Gln)	FOXA2 (P352Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3048214	NM_021784.5(FOXA2):c.1053C>G (p.Ala351=)	FOXA2	Single nucleotide variant (synonymous variant)	FOXA2-related disorder	GLikely benign
Select item 1927337	NM_021784.5(FOXA2):c.1036G>C (p.Gly346Arg)	FOXA2 (G340R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960229	NM_021784.5(FOXA2):c.1025C>T (p.Ala342Val)	FOXA2 (A336V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1551896	NM_021784.5(FOXA2):c.1023G>C (p.Pro341=)	FOXA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2695263	NM_021784.5(FOXA2):c.1008G>A (p.Leu336=)	FOXA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2761574	NM_021784.5(FOXA2):c.1004C>G (p.Ala335Gly)	FOXA2 (A329G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1684750	NM_021784.5(FOXA2):c.1001C>T (p.Ala334Val)	FOXA2 (A328V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1976656	NM_021784.5(FOXA2):c.963G>T (p.Lys321Asn)	FOXA2 (K321N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983633	NM_021784.5(FOXA2):c.921C>G (p.Thr307=)	FOXA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3096246	NM_021784.5(FOXA2):c.910C>A (p.Pro304Thr)	FOXA2 (P298T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1338704	NM_021784.5(FOXA2):c.890C>T (p.Ala297Val)	FOXA2 (A291V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1982187	NM_021784.5(FOXA2):c.881G>C (p.Gly294Ala)	FOXA2 (G288A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3096245	NM_021784.5(FOXA2):c.880G>C (p.Gly294Arg)	FOXA2 (G288R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 453119	NM_021784.5(FOXA2):c.859del (p.Gln287fs)	FOXA2 (Q287fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1601694	NM_021784.5(FOXA2):c.855A>G (p.Gly285=)	FOXA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2600556	NM_021784.5(FOXA2):c.839A>G (p.Lys280Arg)	FOXA2 (K274R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1710896	NM_021784.5(FOXA2):c.829G>A (p.Gly277Ser)	FOXA2 (G271S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1336205	NM_021784.5(FOXA2):c.828C>G (p.Ala276=)	FOXA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2918729	NM_021784.5(FOXA2):c.816C>T (p.Ala272=)	FOXA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2820733	NM_021784.5(FOXA2):c.803C>A (p.Ala268Glu)	FOXA2 (A268E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2013682	NM_021784.5(FOXA2):c.790G>C (p.Glu264Gln)	FOXA2 (E264Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1664389	NM_021784.5(FOXA2):c.774G>A (p.Gln258=)	FOXA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1432171	NM_021784.5(FOXA2):c.737G>A (p.Gly246Asp)	FOXA2 (G240D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2613014	NM_021784.5(FOXA2):c.693C>G (p.Asp231Glu)	FOXA2 (D231E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474490	NM_021784.5(FOXA2):c.620A>C (p.Gln207Pro)	FOXA2 (Q201P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2743095	NM_021784.5(FOXA2):c.608G>A (p.Arg203Gln)	FOXA2 (R197Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2163375	NM_021784.5(FOXA2):c.598C>G (p.Pro200Ala)	FOXA2 (P194A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2754394	NM_021784.5(FOXA2):c.573dup (p.Tyr192fs)	FOXA2 (Y186fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3279491	NM_021784.5(FOXA2):c.543C>G (p.Ser181Arg)	FOXA2 (S175R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279490	NM_021784.5(FOXA2):c.542G>C (p.Ser181Thr)	FOXA2 (S181T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279489	NM_021784.5(FOXA2):c.541A>T (p.Ser181Cys)	FOXA2 (S181C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2502182	NM_021784.5(FOXA2):c.506C>G (p.Ser169Trp)	FOXA2 (S163W +1 more)	Single nucleotide variant (missense variant)	Congenital syndromic hypopituitarism	GLikely pathogenic
Select item 2112425	NM_021784.5(FOXA2):c.498G>A (p.Pro166=)	FOXA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1941075	NM_021784.5(FOXA2):c.489C>T (p.His163=)	FOXA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2255951	NM_021784.5(FOXA2):c.487C>T (p.His163Tyr)	FOXA2 (H157Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1436083	NM_021784.5(FOXA2):c.476G>A (p.Arg159His)	FOXA2 (R159H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1620703	NM_021784.5(FOXA2):c.468C>G (p.Thr156=)	FOXA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1336678	NM_021784.5(FOXA2):c.465G>A (p.Lys155=)	FOXA2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2605835	NM_021784.5(FOXA2):c.457G>T (p.Asp153Tyr)	FOXA2 (D147Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2064808	NM_021784.5(FOXA2):c.438G>C (p.Ala146=)	FOXA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2712016	NM_021784.5(FOXA2):c.428A>G (p.Tyr143Cys)	FOXA2 (Y143C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1646870	NM_021784.5(FOXA2):c.425T>C (p.Met142Thr)	FOXA2 (M136T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1337886	NM_021784.5(FOXA2):c.399C>T (p.Tyr133=)	FOXA2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3096244	NM_021784.5(FOXA2):c.392C>G (p.Ala131Gly)	FOXA2 (A125G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1653261	NM_021784.5(FOXA2):c.379A>G (p.Met127Val)	FOXA2 (M121V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3041178	NM_021784.5(FOXA2):c.363G>A (p.Gly121=)	FOXA2	Single nucleotide variant (synonymous variant)	FOXA2-related disorder	GLikely benign
Select item 2710529	NM_021784.5(FOXA2):c.360G>C (p.Gly120=)	FOXA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2991668	NM_021784.5(FOXA2):c.359G>A (p.Gly120Glu)	FOXA2 (G120E +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2028492	NM_021784.5(FOXA2):c.358G>C (p.Gly120Arg)	FOXA2 (G120R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1594641	NM_021784.5(FOXA2):c.354G>T (p.Pro118=)	FOXA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1599436	NM_021784.5(FOXA2):c.344G>A (p.Ser115Asn)	FOXA2 (S109N +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2306369	NM_021784.5(FOXA2):c.324G>A (p.Met108Ile)	FOXA2 (M102I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2265996	NM_021784.5(FOXA2):c.316G>A (p.Ala106Thr)	FOXA2 (A100T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1569424	NM_021784.5(FOXA2):c.309C>T (p.Ala103=)	FOXA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2314170	NM_021784.5(FOXA2):c.305C>A (p.Ala102Glu)	FOXA2 (A102E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1166363	NM_021784.5(FOXA2):c.298G>C (p.Ala100Pro)	FOXA2 (A100P +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 1930296	NM_021784.5(FOXA2):c.296C>T (p.Ser99Leu)	FOXA2 (S93L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2232289	NM_021784.5(FOXA2):c.295T>G (p.Ser99Ala)	FOXA2 (S99A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2961403	NM_021784.5(FOXA2):c.293G>A (p.Gly98Asp)	FOXA2 (G92D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2780917	NM_021784.5(FOXA2):c.284G>T (p.Gly95Val)	FOXA2 (G89V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2387751	NM_021784.5(FOXA2):c.281C>A (p.Ala94Glu)	FOXA2 (A88E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2609805	NM_021784.5(FOXA2):c.280G>A (p.Ala94Thr)	FOXA2 (A94T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1930298	NM_021784.5(FOXA2):c.275C>T (p.Ala92Val)	FOXA2 (A92V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2179758	NM_021784.5(FOXA2):c.274G>A (p.Ala92Thr)	FOXA2 (A92T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2969461	NM_021784.5(FOXA2):c.258G>T (p.Met86Ile)	FOXA2 (M86I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2756634	NM_021784.5(FOXA2):c.252G>T (p.Ala84=)	FOXA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2715806	NM_021784.5(FOXA2):c.246C>G (p.Ser82=)	FOXA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2340540	NM_021784.5(FOXA2):c.242C>G (p.Pro81Arg)	FOXA2 (P81R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1654400	NM_021784.5(FOXA2):c.219G>T (p.Ser73=)	FOXA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1568536	NM_021784.5(FOXA2):c.198G>T (p.Ala66=)	FOXA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1336448	NM_021784.5(FOXA2):c.198G>A (p.Ala66=)	FOXA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign

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