ClinVar for Gene (Select 27023) - ClinVar

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

Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3279499	NM_012182.3(FOXB1):c.956T>C (p.Leu319Ser)	FOXB1 (L319S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279498	NM_012182.3(FOXB1):c.345C>G (p.Asp115Glu)	FOXB1 (D115E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279497	NM_012182.3(FOXB1):c.137G>A (p.Arg46His)	FOXB1 (R46H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096256	NM_012182.3(FOXB1):c.908G>A (p.Ser303Asn)	FOXB1 (S303N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096255	NM_012182.3(FOXB1):c.478G>A (p.Val160Met)	FOXB1 (V160M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096254	NM_012182.3(FOXB1):c.329A>G (p.Lys110Arg)	FOXB1 (K110R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096253	NM_012182.3(FOXB1):c.13G>A (p.Gly5Ser)	FOXB1 (G5S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685517	GRCh37/hg19 15q21.3-22.2(chr15:54020810-62086530)x1	ADAM10, ALDH1A2 +35 more	Copy number loss	not provided	GPathogenic
Select item 2559274	NM_012182.3(FOXB1):c.899C>A (p.Thr300Asn)	FOXB1 (T300N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524903	NM_012182.3(FOXB1):c.964G>C (p.Val322Leu)	FOXB1 (V322L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524570	NM_012182.3(FOXB1):c.152G>A (p.Arg51Lys)	FOXB1 (R51K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484416	NM_012182.3(FOXB1):c.724G>A (p.Gly242Ser)	FOXB1 (G242S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473795	NM_012182.3(FOXB1):c.808G>A (p.Val270Met)	FOXB1 (V270M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365750	NM_012182.3(FOXB1):c.617C>A (p.Thr206Asn)	FOXB1 (T206N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333167	NM_012182.3(FOXB1):c.932C>G (p.Thr311Arg)	FOXB1 (T311R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326048	NM_012182.3(FOXB1):c.38A>G (p.Lys13Arg)	FOXB1 (K13R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281053	NM_012182.3(FOXB1):c.83G>A (p.Ser28Asn)	FOXB1 (S28N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264965	NM_012182.3(FOXB1):c.640G>A (p.Gly214Ser)	FOXB1 (G214S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238037	NM_012182.3(FOXB1):c.664G>C (p.Ala222Pro)	FOXB1 (A222P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807706	GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3	ADAM10, ALDH1A2 +81 more	Copy number gain	not provided	GPathogenic
Select item 1807586	GRCh37/hg19 15q22.2(chr15:60235405-60350625)x1	FOXB1	Copy number loss	not provided	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 815724	GRCh37/hg19 15q22.2(chr15:59592936-60360150)x1	BNIP2, FAM81A +4 more	Copy number loss	not provided	GUncertain significance
Select item 685183	GRCh37/hg19 15q21.1-22.2(chr15:48000433-60747551)x3	ADAM10, ALDH1A2 +76 more	Copy number gain	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 442636	GRCh37/hg19 15q21.3-22.2(chr15:58088503-62221756)x1	ADAM10, ALDH1A2 +17 more	Copy number loss	See cases	GPathogenic
Select item 395193	GRCh37/hg19 15q21.3-22.2(chr15:54713558-62769295)x1	ADAM10, ALDH1A2 +37 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 57882	GRCh38/hg38 15q21.3-22.2(chr15:57567950-63019415)x1	ADAM10, ALDH1A2 +163 more	Copy number loss	See cases	GPathogenic
Select item 57220	GRCh38/hg38 15q21.3-22.2(chr15:57456076-61907285)x1	LOC126862145, LOC126862146 +140 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: 35