ClinVar for Gene (Select 3171) - ClinVar

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

Links from Gene

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3279496	NM_004497.3(FOXA3):c.968G>A (p.Gly323Glu)	FOXA3 (G323E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096252	NM_004497.3(FOXA3):c.982G>A (p.Gly328Arg)	FOXA3 (G328R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096251	NM_004497.3(FOXA3):c.539G>C (p.Arg180Pro)	FOXA3 (R180P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096248	NM_004497.3(FOXA3):c.266G>A (p.Ser89Asn)	FOXA3 (S89N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096247	NM_004497.3(FOXA3):c.253G>A (p.Gly85Ser)	FOXA3 (G85S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060822	NM_004497.3(FOXA3):c.516C>T (p.Asn172=)	FOXA3	Single nucleotide variant (synonymous variant)	FOXA3-related disorder	GBenign
Select item 3059205	NM_004497.3(FOXA3):c.954C>A (p.Pro318=)	FOXA3	Single nucleotide variant (synonymous variant)	FOXA3-related disorder	GBenign
Select item 3057032	NM_004497.3(FOXA3):c.711T>C (p.Ala237=)	FOXA3	Single nucleotide variant (synonymous variant)	FOXA3-related disorder	GLikely benign
Select item 3052478	NM_004497.3(FOXA3):c.-9G>C	FOXA3, LOC130064732	Single nucleotide variant (5 prime UTR variant)	FOXA3-related disorder	GLikely benign
Select item 3048252	NM_004497.3(FOXA3):c.874C>G (p.Leu292Val)	FOXA3 (L292V)	Single nucleotide variant (missense variant)	FOXA3-related disorder	GLikely benign
Select item 3042890	NM_004497.3(FOXA3):c.963C>T (p.Asp321=)	FOXA3	Single nucleotide variant (synonymous variant)	FOXA3-related disorder	GLikely benign
Select item 3041583	NM_004497.3(FOXA3):c.345C>T (p.His115=)	FOXA3	Single nucleotide variant (synonymous variant)	FOXA3-related disorder	GBenign
Select item 2568723	NM_004497.3(FOXA3):c.97A>C (p.Thr33Pro)	FOXA3 (T33P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509721	NM_004497.3(FOXA3):c.886G>A (p.Ala296Thr)	FOXA3 (A296T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494541	NM_004497.3(FOXA3):c.824C>T (p.Ser275Leu)	FOXA3 (S275L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493207	NM_004497.3(FOXA3):c.725C>G (p.Thr242Ser)	FOXA3 (T242S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386703	NM_004497.3(FOXA3):c.109C>A (p.Leu37Ile)	FOXA3 (L37I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371319	NM_004497.3(FOXA3):c.716C>T (p.Ser239Leu)	FOXA3 (S239L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317350	NM_004497.3(FOXA3):c.287G>C (p.Gly96Ala)	FOXA3 (G96A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275543	NM_004497.3(FOXA3):c.259A>G (p.Ser87Gly)	FOXA3 (S87G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2229922	NM_004497.3(FOXA3):c.478C>A (p.Arg160Ser)	FOXA3 (R160S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218750	NM_004497.3(FOXA3):c.378C>G (p.Ile126Met)	FOXA3 (I126M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204440	NM_004497.3(FOXA3):c.749C>T (p.Pro250Leu)	FOXA3 (P250L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 816085	GRCh37/hg19 19q13.32-13.33(chr19:45531056-48174177)x3	OPA3, PPP1R37 +74 more	Copy number gain	not provided	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 564591	GRCh37/hg19 19q13.32(chr19:46192402-46603824)x3	CCDC61, DMPK +14 more	Copy number gain	not provided	GUncertain significance
Select item 564584	GRCh37/hg19 19q13.32(chr19:46361535-46573564)x3	NANOS2, IGFL4 +8 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 253540	GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	APOC1, APOC2 +120 more	Copy number loss	See cases	GPathogenic
Select item 148766	GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1	CALM3, CCDC61 +190 more	Copy number loss	See cases	GLikely pathogenic
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	LOC129391127, LOC129391128 +363 more	Copy number gain	See cases	GPathogenic
Select item 57097	GRCh38/hg38 19q13.32(chr19:45595873-46600026)x1	MEIOSIN, MIR330 +115 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 34