FBH1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	PROSER2-AS1, PRPF18 +680 more	Copy number loss	See cases	GPathogenic
Select item 154187	GRCh38/hg38 10p15.3-13(chr10:54086-13205916)x3	MIR5699, MIR6072 +496 more	Copy number gain	See cases	GPathogenic
Select item 58710	GRCh38/hg38 10p15.3-15.1(chr10:69260-6209368)x1	ADARB2, ADARB2-AS1 +276 more	Copy number loss	See cases	GPathogenic
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 150048	GRCh38/hg38 10p15.3-13(chr10:70478-13736564)x1	LOC130003277, LOC130003278 +520 more	Copy number loss	See cases	GPathogenic
Select item 146014	GRCh38/hg38 10p15.3-13(chr10:73856-12815915)x3	LOC132090805, MANCR +482 more	Copy number gain	See cases	GPathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 146220	GRCh38/hg38 10p15.3-14(chr10:90421-11713049)x3	LOC130003153, LOC130003154 +421 more	Copy number gain	See cases	GPathogenic
Select item 57431	GRCh38/hg38 10p15.3-14(chr10:90421-6769994)x3	ADARB2, ADARB2-AS1 +298 more	Copy number gain	See cases	GPathogenic
Select item 57407	GRCh38/hg38 10p15.3-14(chr10:90421-8442783)x3	ADARB2, ADARB2-AS1 +352 more	Copy number gain	See cases	GPathogenic
Select item 154099	GRCh38/hg38 10p15.3-14(chr10:1601172-9203729)x3	ADARB2, AKR1C1 +304 more	Copy number gain	See cases	GLikely pathogenic
Select item 545134	Single allele	LOC130003188, LOC130003189 +195 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 146553	GRCh38/hg38 10p15.1-14(chr10:4605831-7403265)x1	AKR1C1, AKR1C2 +175 more	Copy number loss	See cases	GUncertain significance
Select item 58717	GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1	LOC130003217, LOC130003218 +482 more	Copy number loss	See cases	GPathogenic
Select item 3093284	NM_178150.3(FBH1):c.1+4767G>A	FBH1 (G27E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093286	NM_178150.3(FBH1):c.1+4775G>A	FBH1 (G30S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093287	NM_178150.3(FBH1):c.1+4776G>A	FBH1 (G30D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471007	NM_178150.3(FBH1):c.1+4794G>A	FBH1 (C36Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526351	NM_178150.3(FBH1):c.1+4834C>G	FBH1 (H49Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093248	NM_178150.3(FBH1):c.17G>A (p.Arg6Gln)	FBH1 (R6Q +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3093250	NM_178150.3(FBH1):c.41G>A (p.Cys14Tyr)	FBH1 (C14Y +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3093262	NM_178150.3(FBH1):c.148G>A (p.Gly50Arg)	FBH1 (G101R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3093266	NM_178150.3(FBH1):c.158G>T (p.Gly53Val)	FBH1 (G104V +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3093265	NM_178150.3(FBH1):c.158G>A (p.Gly53Asp)	FBH1 (G53D +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3093267	NM_178150.3(FBH1):c.167G>A (p.Ser56Asn)	FBH1 (S107N +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3093272	NM_178150.3(FBH1):c.209C>T (p.Pro70Leu)	FBH1 (P121L +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3093273	NM_178150.3(FBH1):c.211T>G (p.Cys71Gly)	FBH1 (C122G +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3093274	NM_178150.3(FBH1):c.314A>T (p.Gln105Leu)	FBH1 (Q31L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093275	NM_178150.3(FBH1):c.328G>C (p.Gly110Arg)	FBH1 (G36R +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3093276	NM_178150.3(FBH1):c.332C>T (p.Pro111Leu)	FBH1 (P37L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3093277	NM_178150.3(FBH1):c.379T>G (p.Ser127Ala)	FBH1 (S127A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093278	NM_178150.3(FBH1):c.410C>G (p.Thr137Ser)	FBH1 (T137S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277903	NM_178150.3(FBH1):c.415C>T (p.Arg139Trp)	FBH1 (R139W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093279	NM_178150.3(FBH1):c.437A>G (p.Lys146Arg)	FBH1 (K197R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610452	NM_178150.3(FBH1):c.500A>G (p.Glu167Gly)	FBH1 (E167G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093281	NM_178150.3(FBH1):c.506G>A (p.Ser169Asn)	FBH1 (S220N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589682	NM_178150.3(FBH1):c.514C>T (p.Arg172Trp)	FBH1 (R172W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524061	NM_178150.3(FBH1):c.518T>C (p.Leu173Pro)	FBH1 (L224P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093282	NM_178150.3(FBH1):c.532G>T (p.Gly178Cys)	FBH1 (G178C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093283	NM_178150.3(FBH1):c.545A>G (p.Gln182Arg)	FBH1 (Q108R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618255	NM_178150.3(FBH1):c.571C>T (p.Pro191Ser)	FBH1 (P117S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558190	NM_178150.3(FBH1):c.571C>G (p.Pro191Ala)	FBH1 (P117A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093285	NM_178150.3(FBH1):c.679C>T (p.Leu227Phe)	FBH1 (L227F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093240	NM_178150.3(FBH1):c.889A>G (p.Thr297Ala)	FBH1 (T348A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093241	NM_178150.3(FBH1):c.914G>A (p.Ser305Asn)	FBH1 (S231N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093242	NM_178150.3(FBH1):c.1046C>T (p.Ala349Val)	FBH1 (A400V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093243	NM_178150.3(FBH1):c.1072G>C (p.Val358Leu)	FBH1 (V358L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093244	NM_178150.3(FBH1):c.1138G>A (p.Val380Ile)	FBH1 (V431I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3277904	NM_178150.3(FBH1):c.1201A>G (p.Ile401Val)	FBH1 (I401V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093245	NM_178150.3(FBH1):c.1265A>G (p.Gln422Arg)	FBH1 (Q348R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093246	NM_178150.3(FBH1):c.1360G>C (p.Glu454Gln)	FBH1 (E505Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614606	NM_178150.3(FBH1):c.1367T>C (p.Leu456Pro)	FBH1 (L382P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093249	NM_178150.3(FBH1):c.1567T>G (p.Tyr523Asp)	FBH1 (Y449D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602876	NM_178150.3(FBH1):c.1688T>A (p.Phe563Tyr)	FBH1 (F489Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093251	NM_178150.3(FBH1):c.1811G>A (p.Arg604His)	FBH1, LOC126860848 (R604H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277905	NM_178150.3(FBH1):c.1973A>G (p.Asn658Ser)	FBH1 (N658S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533540	NM_178150.3(FBH1):c.2005T>C (p.Phe669Leu)	FBH1 (F595L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550535	NM_178150.3(FBH1):c.2064C>A (p.Phe688Leu)	FBH1 (F739L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093252	NM_178150.3(FBH1):c.2083G>A (p.Val695Ile)	FBH1 (V695I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093253	NM_178150.3(FBH1):c.2089T>C (p.Tyr697His)	FBH1 (Y697H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161784	NM_178150.3(FBH1):c.2107C>T (p.Arg703Trp)	FBH1 (R754W +2 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 3093254	NM_178150.3(FBH1):c.2246G>A (p.Arg749Gln)	FBH1 (R749Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093256	NM_178150.3(FBH1):c.2359A>G (p.Ile787Val)	FBH1 (I713V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491937	NM_178150.3(FBH1):c.2376G>C (p.Gln792His)	FBH1 (Q718H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093257	NM_178150.3(FBH1):c.2423T>G (p.Phe808Cys)	FBH1 (F808C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600648	NM_178150.3(FBH1):c.2455A>G (p.Ser819Gly)	FBH1 (S819G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093258	NM_178150.3(FBH1):c.2479G>A (p.Ala827Thr)	FBH1 (A753T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093259	NM_178150.3(FBH1):c.2480C>T (p.Ala827Val)	FBH1 (A827V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093260	NM_178150.3(FBH1):c.2485G>A (p.Glu829Lys)	FBH1 (E829K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093261	NM_178150.3(FBH1):c.2537G>A (p.Arg846Lys)	FBH1 (R897K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550446	NM_178150.3(FBH1):c.2602A>G (p.Ile868Val)	FBH1 (I919V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560287	NM_178150.3(FBH1):c.2686C>T (p.Arg896Trp)	FBH1 (R839W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093263	NM_178150.3(FBH1):c.2884C>T (p.Arg962Cys)	FBH1 (R1013C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093264	NM_178150.3(FBH1):c.2891G>A (p.Cys964Tyr)	FBH1 (C1015Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608274	NM_178150.3(FBH1):c.3008C>T (p.Ala1003Val)	FBH1, LOC105376384 (A1003V +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3093268	NM_178150.3(FBH1):c.3061C>T (p.Arg1021Cys)	FBH1, LOC105376384 (R947C +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3093269	NM_178150.3(FBH1):c.3062G>A (p.Arg1021His)	FBH1, LOC105376384 (R947H +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2618353	NM_178150.3(FBH1):c.3076A>C (p.Thr1026Pro)	FBH1, LOC105376384 (T952P +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3093270	NM_178150.3(FBH1):c.3085A>T (p.Asn1029Tyr)	FBH1, LOC105376384 (N955Y +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3093271	NM_178150.3(FBH1):c.3124G>A (p.Val1042Ile)	FBH1, LOC105376384 (V1042I +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3244845	NC_000010.10:g.(?_5936453)_(6104114_?)dup	FBH1, IL15RA +1 more	Duplication	Immunodeficiency due to CD25 deficiency	GUncertain significance
Select item 3148909	GRCh37/hg19 10p15.3-14(chr10:1274308-12045503)x3	ADARB2, AKR1C1 +35 more	Copy number gain	See cases	GUncertain significance
Select item 3063136	GRCh37/hg19 10p15.1(chr10:5971020-6231793)x3	FBH1, IL15RA +3 more	Copy number gain	not specified	GUncertain significance
Select item 1807587	GRCh37/hg19 10p15.3-13(chr10:100027-12648149)x3	CDC123, CELF2 +47 more	Copy number gain	not provided	GUncertain significance
Select item 1527576	GRCh37/hg19 10p15.1(chr10:5952259-6486611)	FBH1, IL15RA +4 more	Copy number gain	not specified	GUncertain significance
Select item 1527575	GRCh37/hg19 10p15.3-14(chr10:2116123-8856296)	AKR1C1, AKR1C2 +29 more	Copy number gain	not specified	GUncertain significance
Select item 1340138	GRCh37/hg19 10p15.1-14(chr10:4927427-6653936)x3	AKR1C1, AKR1C2 +18 more	Copy number gain	not provided	GUncertain significance
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ARL5B, LARP4B +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 1077184	Single allele	AKR1C1, AKR1C2 +30 more	Deletion	not provided	GPathogenic
Select item 687391	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	ACBD7, ADARB2 +68 more	Copy number gain	not provided	GPathogenic
Select item 687363	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	WDR37, ZMYND11 +68 more	Copy number gain	not provided	GPathogenic
Select item 685737	GRCh37/hg19 10p15.1(chr10:5544108-5956516)x3	ANKRD16, ASB13 +5 more	Copy number gain	not provided	GUncertain significance
Select item 599307	Single allele	ITIH2, ITIH5 +72 more	Deletion	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 442589	GRCh37/hg19 10p15.3-13(chr10:100026-12842179)x1	ADARB2, AKR1C1 +47 more	Copy number loss	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 395536	GRCh37/hg19 10p15.3-14(chr10:136361-8850609)x1	ADARB2, AKR1C1 +37 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic

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