25300[HGNC] - ClinVar

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Items: 57

	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 146013	GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3	LOC130058889, LOC130058890 +207 more	Copy number gain	See cases	GPathogenic
Select item 144329	GRCh38/hg38 16p11.2-11.1(chr16:30691912-36160463)x3	AHSP, ARMC5 +136 more	Copy number gain	See cases	GPathogenic
Select item 976383	NM_001382779.1(FBXL19):c.26_32dup (p.Ala12fs)	FBXL19 (A12fs +2 more)	Microsatellite (frameshift variant)	Neurodevelopmental delay	GUncertain significance
Select item 2557720	NM_001382779.1(FBXL19):c.28G>A (p.Ala10Thr)	FBXL19 (A30T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365452	NM_001382779.1(FBXL19):c.28G>T (p.Ala10Ser)	FBXL19 (A10S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093522	NM_001382779.1(FBXL19):c.29C>T (p.Ala10Val)	FBXL19 (A32V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2646418	NM_001382779.1(FBXL19):c.36G>A (p.Ala12=)	FBXL19	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 740443	NM_001382779.1(FBXL19):c.153G>A (p.Ser51=)	FBXL19	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3235756	NM_001382779.1(FBXL19):c.177+1G>A	FBXL19	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2294154	NM_001382779.1(FBXL19):c.191A>G (p.His64Arg)	FBXL19 (H64R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289389	NM_001382779.1(FBXL19):c.241G>A (p.Glu81Lys)	FBXL19 (E103K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2646419	NM_001382779.1(FBXL19):c.390G>A (p.Gln130=)	FBXL19	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2407067	NM_001382779.1(FBXL19):c.415G>A (p.Gly139Ser)	FBXL19 (G159S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596866	NM_001382779.1(FBXL19):c.526A>C (p.Lys176Gln)	FBXL19 (K196Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 774720	NM_001382779.1(FBXL19):c.531C>T (p.Gly177=)	FBXL19	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2285230	NM_001382779.1(FBXL19):c.547C>T (p.Pro183Ser)	FBXL19 (P183S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588229	NM_001382779.1(FBXL19):c.551C>T (p.Pro184Leu)	FBXL19 (P206L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385907	NM_001382779.1(FBXL19):c.607C>G (p.Pro203Ala)	FBXL19 (P203A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602024	NM_001382779.1(FBXL19):c.664G>A (p.Gly222Ser)	FBXL19 (G222S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2555320	NM_001382779.1(FBXL19):c.707C>T (p.Pro236Leu)	FBXL19 (P236L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3093521	NM_001382779.1(FBXL19):c.800C>T (p.Pro267Leu)	FBXL19 (P287L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369397	NM_001382779.1(FBXL19):c.827C>T (p.Ala276Val)	FBXL19 (A233V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2379170	NM_001382779.1(FBXL19):c.982G>A (p.Gly328Ser)	FBXL19 (G307S +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3093516	NM_001382779.1(FBXL19):c.1048C>T (p.Arg350Trp)	FBXL19 (R307W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612180	NM_001382779.1(FBXL19):c.1051C>T (p.Arg351Trp)	FBXL19 (R308W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262435	NM_001382779.1(FBXL19):c.1124C>T (p.Pro375Leu)	FBXL19 (P354L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388894	NM_001382779.1(FBXL19):c.1136G>A (p.Arg379Gln)	FBXL19 (R358Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475652	NM_001382779.1(FBXL19):c.1201G>T (p.Asp401Tyr)	FBXL19 (D109Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 930418	NM_001382779.1(FBXL19):c.1205_1218del (p.His402fs)	FBXL19 (H110fs +4 more)	Deletion (frameshift variant)	See cases	GUncertain significance
Select item 2330943	NM_001382779.1(FBXL19):c.1255C>T (p.Arg419Trp)	FBXL19 (R127W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093517	NM_001382779.1(FBXL19):c.1363C>T (p.Pro455Ser)	FBXL19 (P412S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234089	NM_001382779.1(FBXL19):c.1576A>G (p.Lys526Glu)	FBXL19 (K546E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093518	NM_001382779.1(FBXL19):c.1619C>G (p.Thr540Ser)	FBXL19 (T497S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259681	NM_001382779.1(FBXL19):c.1649G>A (p.Arg550Gln)	FBXL19 (R550Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483160	NM_001382779.1(FBXL19):c.1660G>T (p.Val554Leu)	FBXL19 (V262L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093519	NM_001382779.1(FBXL19):c.1889G>A (p.Arg630His)	FBXL19 (R338H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278051	NM_001382779.1(FBXL19):c.1904G>A (p.Arg635His)	FBXL19 (R343H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782961	NM_001382779.1(FBXL19):c.1955G>A (p.Arg652Gln)	FBXL19 (R360Q +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3243573	NC_000016.9:g.(?_28889993)_(31202759_?)del	ALDOA, ASPHD1 +76 more	Deletion	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 2427156	NC_000016.9:g.(?_30712146)_(31021717_?)dup	BCL7C, CFAP119 +10 more	Duplication	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 1526506	GRCh37/hg19 16p11.2(chr16:30943854-31171177)	PRSS53, PRSS8 +12 more	Copy number loss	not specified	GLikely pathogenic
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 687383	GRCh37/hg19 16p11.2(chr16:30851860-31156762)x1	BCKDK, BCL7C +14 more	Copy number loss	not provided	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 443135	GRCh37/hg19 16p11.2(chr16:30952806-31177641)x1	BCKDK, FBXL19 +12 more	Copy number loss	See cases	GLikely pathogenic
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 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: 57