ClinVar for Gene (Select 27023) - ClinVar

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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	B2M, CTXN2 +472 more	Duplication	Bloom syndrome +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

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Links from Gene

Items: 35