FBRS[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 151637	GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	ZNF747, ZNF747-DT +378 more	Copy number gain	See cases	GPathogenic
Select item 146284	GRCh38/hg38 16p11.2(chr16:29581462-30691912)x1	ALDOA, ASPHD1 +180 more	Copy number loss	See cases	GPathogenic
Select item 146013	GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3	LOC130058889, LOC130058890 +207 more	Copy number gain	See cases	GPathogenic
Select item 2646385	NM_001105079.3(FBRS):c.426C>T (p.Ala142=)	FBRS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2249257	NM_001105079.3(FBRS):c.1630G>A (p.Ala544Thr)	FBRS (A544T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206206	NM_001105079.3(FBRS):c.1661C>T (p.Pro554Leu)	FBRS (P554L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220869	NM_001105079.3(FBRS):c.1715C>A (p.Pro572His)	FBRS (P572H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593791	NM_001105079.3(FBRS):c.1718A>G (p.Glu573Gly)	FBRS (E573G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213213	NM_001105079.3(FBRS):c.1730G>A (p.Arg577Gln)	FBRS (R577Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385919	NM_001105079.3(FBRS):c.1750G>A (p.Gly584Arg)	FBRS (G584R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278016	NM_001105079.3(FBRS):c.1790G>A (p.Arg597Gln)	FBRS (R597Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093424	NM_001105079.3(FBRS):c.1889A>G (p.Lys630Arg)	FBRS (K630R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299411	NM_001105079.3(FBRS):c.1988C>G (p.Ala663Gly)	FBRS (A663G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093425	NM_001105079.3(FBRS):c.1999G>A (p.Val667Ile)	FBRS (V667I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319247	NM_001105079.3(FBRS):c.2005G>A (p.Ala669Thr)	FBRS (A669T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559622	NM_001105079.3(FBRS):c.2017C>A (p.Pro673Thr)	FBRS (P673T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231318	NM_001105079.3(FBRS):c.2023A>G (p.Thr675Ala)	FBRS (T675A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093427	NM_001105079.3(FBRS):c.2033C>T (p.Pro678Leu)	FBRS (P678L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286228	NM_001105079.3(FBRS):c.2044G>A (p.Gly682Arg)	FBRS (G682R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093428	NM_001105079.3(FBRS):c.2057G>C (p.Ser686Thr)	FBRS (S686T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093429	NM_001105079.3(FBRS):c.2123A>G (p.Asn708Ser)	FBRS (N708S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 599483	NM_001105079.3(FBRS):c.2137G>A (p.Gly713Ser)	FBRS (G713S)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 3093430	NM_001105079.3(FBRS):c.2212G>A (p.Ala738Thr)	FBRS (A738T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248137	NM_001105079.3(FBRS):c.2290G>T (p.Ala764Ser)	FBRS (A764S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093431	NM_001105079.3(FBRS):c.2294G>A (p.Arg765Gln)	FBRS (R765Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469667	NM_001105079.3(FBRS):c.2317C>T (p.Arg773Trp)	FBRS (R773W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278014	NM_001105079.3(FBRS):c.2320C>G (p.Pro774Ala)	FBRS (P774A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279298	NM_001105079.3(FBRS):c.2329C>T (p.Arg777Trp)	FBRS (R777W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602669	NM_001105079.3(FBRS):c.2355G>T (p.Glu785Asp)	FBRS (E785D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518178	NM_001105079.3(FBRS):c.2422C>T (p.Arg808Trp)	FBRS (R808W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226310	NM_001105079.3(FBRS):c.2423G>A (p.Arg808Gln)	FBRS (R808Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238112	NM_001105079.3(FBRS):c.2461G>A (p.Val821Met)	FBRS (V821M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618760	NM_001105079.3(FBRS):c.2465G>C (p.Arg822Pro)	FBRS (R822P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468483	NM_001105079.3(FBRS):c.2479C>T (p.Arg827Trp)	FBRS (R827W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774719	NM_001105079.3(FBRS):c.2496C>A (p.Ala832=)	FBRS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2342493	NM_001105079.3(FBRS):c.2524G>A (p.Ala842Thr)	FBRS (A842T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469593	NM_001105079.3(FBRS):c.2527G>A (p.Ala843Thr)	FBRS (A843T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304804	NM_001105079.3(FBRS):c.2591C>T (p.Pro864Leu)	FBRS (P864L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 599485	NM_001105079.3(FBRS):c.2594C>T (p.Pro865Leu)	FBRS (P865L)	Single nucleotide variant (missense variant)	Short stature	GUncertain significance
Select item 2274440	NM_001105079.3(FBRS):c.2609C>G (p.Pro870Arg)	FBRS (P870R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553353	NM_001105079.3(FBRS):c.2624G>A (p.Arg875His)	FBRS (R875H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393923	NM_001105079.3(FBRS):c.2644C>T (p.Pro882Ser)	FBRS (P882S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360836	NM_001105079.3(FBRS):c.2699C>T (p.Ala900Val)	FBRS (A900V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218631	NM_001105079.3(FBRS):c.2728G>A (p.Val910Met)	FBRS (V910M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357398	NM_001105079.3(FBRS):c.2734G>A (p.Ala912Thr)	FBRS (A912T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549309	NM_001105079.3(FBRS):c.2810C>T (p.Ala937Val)	FBRS (A937V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278013	NM_001105079.3(FBRS):c.2816C>T (p.Pro939Leu)	FBRS (P939L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361499	NM_001105079.3(FBRS):c.2837G>A (p.Ser946Asn)	FBRS (S946N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239523	NM_001105079.3(FBRS):c.2881G>C (p.Val961Leu)	FBRS (V961L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278015	NM_001105079.3(FBRS):c.2896C>T (p.Pro966Ser)	FBRS (P966S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 599484	NM_001105079.3(FBRS):c.2896C>G (p.Pro966Ala)	FBRS (P966A)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 2464977	NM_001105079.3(FBRS):c.2930G>A (p.Arg977Gln)	FBRS (R977Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243573	NC_000016.9:g.(?_28889993)_(31202759_?)del	ALDOA, ASPHD1 +76 more	Deletion	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 1809415	GRCh37/hg19 16p11.2(chr16:30460206-30906733)x3	BCL7C, CFAP119 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1330201	GRCh37/hg19 16p11.2(chr16:29808153-30750270)x3	ALDOA, ASPHD1 +42 more	Copy number gain	Chromosome 16p11.2 duplication syndrome	GPathogenic
Select item 979443	GRCh37/hg19 16p11.2(chr16:30350747-31905898)x3	STX4, DCTPP1 +52 more	Copy number gain	not provided	GUncertain significance
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 598742	Single allele	TGFB1I1, TRIM72 +38 more	Deletion	Branched-chain keto acid dehydrogenase kinase deficiency	GUncertain significance
Select item 443355	GRCh37/hg19 16p11.2(chr16:30607048-31117069)x1	BCL7C, CFAP119 +18 more	Copy number loss	See cases	GUncertain significance
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 395300	GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1	AHSP, ALDOA +99 more	Copy number loss	See cases	GLikely pathogenic
Select item 394674	GRCh37/hg19 16p11.2(chr16:30515442-30792856)x1	CFAP119, FBRS +12 more	Copy number loss	See cases	GUncertain significance
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221517	GRCh37/hg19 16p11.2(chr16:30391304-31122666)x3	BCKDK, BCL7C +30 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 69