ClinVar for Gene (Select 8468) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3278967	NM_003602.5(FKBP6):c.256C>A (p.Leu86Ile)	FKBP6 (L81I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3252027	NC_000007.14:g.(?_73303398)_(74735532_?)del	ABHD11, ABHD11-AS1 +130 more	Deletion	Williams syndrome	GLikely pathogenic
Select item 3236844	GRCh38/hg38 7q11.23(chr7:73247356-74727974)x3	ABHD11, ABHD11-AS1 +130 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 3148885	GRCh37/hg19 7q11.23(chr7:72701099-74186150)x3	ABHD11, ABHD11-AS1 +25 more	Copy number gain	not provided	GPathogenic
Select item 3095330	NM_003602.5(FKBP6):c.938G>A (p.Arg313His)	FKBP6 (R308H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095328	NM_003602.5(FKBP6):c.563A>G (p.Tyr188Cys)	FKBP6 (Y158C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3095326	NM_003602.5(FKBP6):c.327G>C (p.Arg109Ser)	FKBP6 (R104S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062986	GRCh37/hg19 7q11.21-11.23(chr7:66776724-74629034)x3	ABHD11, ABHD11-AS1 +35 more	Copy number gain	not specified	GPathogenic
Select item 3062971	GRCh37/hg19 7q11.23(chr7:72732819-76003862)x3	ABHD11, ABHD11-AS1 +43 more	Copy number gain	not specified	GPathogenic
Select item 3058333	NM_003602.5(FKBP6):c.588+3GA[3]	FKBP6	Microsatellite (intron variant)	FKBP6-related disorder	GLikely benign
Select item 3057196	NM_003602.5(FKBP6):c.605G>A (p.Arg202His)	FKBP6 (R157H +3 more)	Single nucleotide variant (missense variant)	FKBP6-related disorder	GBenign
Select item 3043685	NM_003602.5(FKBP6):c.894-4C>G	FKBP6	Single nucleotide variant (intron variant)	FKBP6-related disorder	GBenign
Select item 2685247	GRCh37/hg19 7q11.23(chr7:72718278-72818671)x1	TRIM50, FKBP6 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2684488	GRCh37/hg19 7q11.23(chr7:72547476-74263704)x3	NCF1, NSUN5 +27 more	Copy number gain	not provided	GPathogenic
Select item 2657551	NM_003602.5(FKBP6):c.547C>T (p.Arg183Cys)	FKBP6 (R153C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2657550	NM_003602.5(FKBP6):c.384C>T (p.Pro128=)	FKBP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2616480	NM_003602.5(FKBP6):c.458C>T (p.Ala153Val)	FKBP6 (A123V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2575239	GRCh37/hg19 7q11.23(chr7:72718277-74142256)	ABHD11, ABHD11-AS1 +25 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 2574694	GRCh37/hg19 7q11.23(chr7:72664461-74162586)	ABHD11, ABHD11-AS1 +25 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 2574138	NC_000007.14:g.73304277_74727414del	ABHD11, ABHD11-AS1 +129 more	Deletion	Williams syndrome	GPathogenic
Select item 2568958	NM_003602.5(FKBP6):c.43G>A (p.Asp15Asn)	FKBP6 (D15N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2557531	NM_003602.5(FKBP6):c.865A>C (p.Ile289Leu)	FKBP6 (I284L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557480	NM_003602.5(FKBP6):c.20A>C (p.Asn7Thr)	FKBP6 (N7T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2556689	NM_003602.5(FKBP6):c.674T>G (p.Leu225Arg)	FKBP6 (L225R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522445	NM_003602.5(FKBP6):c.353A>G (p.Tyr118Cys)	FKBP6 (Y118C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506562	GRCh37/hg19 7q11.23(chr7:72717395-74173168)	BAZ1B, CLDN4 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 2505469	Single allele	ABHD11, ABHD11-AS1 +132 more	Deletion	Williams syndrome	GPathogenic
Select item 2499666	GRCh38/hg38 7q11.23(chr7:73229597-74727852)	ABHD11, ABHD11-AS1 +131 more	Copy number loss	Williams syndrome	GPathogenic
Select item 2406725	NM_003602.5(FKBP6):c.523C>T (p.Arg175Trp)	FKBP6 (R145W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2378707	NM_003602.5(FKBP6):c.932G>C (p.Trp311Ser)	FKBP6 (W311S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369333	NM_003602.5(FKBP6):c.557G>A (p.Arg186His)	FKBP6 (R181H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2364549	NM_003602.5(FKBP6):c.636C>A (p.His212Gln)	FKBP6 (H207Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362053	NM_003602.5(FKBP6):c.488C>T (p.Pro163Leu)	FKBP6 (P133L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2325523	NM_003602.5(FKBP6):c.392C>G (p.Thr131Ser)	FKBP6 (T126S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313455	NM_003602.5(FKBP6):c.275T>A (p.Leu92Gln)	FKBP6 (L87Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271195	NM_003602.5(FKBP6):c.508G>A (p.Val170Met)	FKBP6 (V140M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1808834	GRCh37/hg19 7q11.23(chr7:72718278-74143060)x1	ABHD11, ABHD11-AS1 +25 more	Copy number loss	not provided	GPathogenic
Select item 1808638	GRCh37/hg19 7q11.23(chr7:72718278-74143240)x1	ABHD11, ABHD11-AS1 +25 more	Copy number loss	not provided	GPathogenic
Select item 1808490	GRCh37/hg19 7q11.23(chr7:72718278-72822709)x3	FKBP6, NSUN5 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1807825	GRCh37/hg19 7q11.23(chr7:72654782-74142190)x1	ABHD11, ABHD11-AS1 +25 more	Copy number loss	not provided	GPathogenic
Select item 1807812	GRCh37/hg19 7q11.23(chr7:72643632-74143060)x1	ABHD11, ABHD11-AS1 +25 more	Copy number loss	not provided	GPathogenic
Select item 1807742	GRCh37/hg19 7q11.23(chr7:72718278-74142256)x1	ABHD11-AS1, BAZ1B +25 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1706524	GRCh37/hg19 7q11.23(chr7:72718277-74142190)x1	BAZ1B, BUD23 +25 more	Copy number loss	See cases	GPathogenic
Select item 1703677	GRCh37/hg19 7q11.23(chr7:72686958-74155067)	ABHD11, ABHD11-AS1 +25 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 1703596	GRCh37/hg19 7q11.23(chr7:72700127-74142190)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703595	GRCh37/hg19 7q11.23(chr7:72701084-74142190)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703594	GRCh37/hg19 7q11.23(chr7:72700942-74142190)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703593	GRCh37/hg19 7q11.23(chr7:72700996-74142256)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703591	GRCh37/hg19 7q11.23(chr7:72718123-74141784)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703590	GRCh37/hg19 7q11.23(chr7:72645013-74142190)	BAZ1B, BCL7B +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703588	GRCh37/hg19 7q11.23(chr7:72589515-74629034)	ABHD11, ABHD11-AS1 +29 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703587	GRCh37/hg19 7q11.23(chr7:72589195-74225562)	ABHD11, ABHD11-AS1 +27 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703586	GRCh37/hg19 7q11.23(chr7:72718123-74142190)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1684035	NM_003602.5(FKBP6):c.469-2A>T	FKBP6	Single nucleotide variant (splice acceptor variant +1 more)	Male infertility	GLikely pathogenic
Select item 1684034	NM_003602.5(FKBP6):c.832C>T (p.Arg278Ter)	FKBP6 (R233* +3 more)	Single nucleotide variant (nonsense)	Male infertility	GLikely pathogenic
Select item 1684033	NM_003602.5(FKBP6):c.508_529dup (p.Phe177fs)	FKBP6 (F147fs +2 more)	Duplication (frameshift variant +1 more)	Male infertility	GPathogenic
Select item 1684032	NM_003602.5(FKBP6):c.589-2A>G	FKBP6	Single nucleotide variant (splice acceptor variant)	Male infertility	GPathogenic
Select item 1683495	NM_003602.5(FKBP6):c.610C>T (p.Arg204Ter)	FKBP6 (R159* +3 more)	Single nucleotide variant (nonsense)	Male infertility	GLikely pathogenic
Select item 1341969	GRCh37/hg19 7q11.23(chr7:72766313-74042787)x3	ABHD11, ABHD11-AS1 +22 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 1330192	GRCh37/hg19 7q11.23(chr7:72717345-74133310)x3	ABHD11, ABHD11-AS1 +25 more	Copy number gain	Distal 7q11.23 microdeletion syndrome	GPathogenic
Select item 1047864	GRCh37/hg19 7q11.22-11.23(chr7:71847968-73391310)	ABHD11, ABHD11-AS1 +20 more	Copy number loss	Williams syndrome	GLikely pathogenic
Select item 988936	GRCh37/hg19 7q11.23(chr7:72717369-74142224)x1	ABHD11, ABHD11-AS1 +25 more	Copy number loss	not provided	GPathogenic
Select item 980829	GRCh37/hg19 7q11.22-11.23(chr7:68977230-73939510)x1	ABHD11, ABHD11-AS1 +30 more	Copy number loss	not provided	GPathogenic
Select item 979622	GRCh37/hg19 7q11.23(chr7:72403117-76709600)x1	TBL2, TMEM120A +50 more	Copy number loss	not provided	GPathogenic
Select item 979621	GRCh37/hg19 7q11.23(chr7:72659674-74164894)x3	ABHD11, ABHD11-AS1 +25 more	Copy number gain	not provided	GPathogenic
Select item 929343	GRCh37/hg19 7q11.23(chr7:72722981-74141840)x3	ABHD11, ABHD11-AS1 +24 more	Copy number gain	See cases	GPathogenic
Select item 830314	Single allele	FKBP6, FZD9 +25 more	Deletion	Williams syndrome	GPathogenic
Select item 814990	GRCh37/hg19 7q11.23(chr7:72621722-76007380)x1	VPS37D, CLDN4 +44 more	Copy number loss	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 686640	GRCh37/hg19 7q11.23(chr7:72700510-72874856)x3	BAZ1B, FKBP6 +3 more	Copy number gain	not provided	GUncertain significance
Select item 638321	NM_003602.5(FKBP6):c.101G>A (p.Gly34Glu)	FKBP6 (G29E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 635960	Single allele	ABHD11, ABHD11-AS1 +24 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 635959	Single allele	ABHD11, ABHD11-AS1 +25 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 635951	Single allele	ABHD11, ABHD11-AS1 +25 more	Duplication	Neurodevelopmental disorder	GLikely pathogenic
Select item 626296	Single allele	ABHD11, ABHD11-AS1 +25 more	Deletion	not provided	GLikely pathogenic
Select item 625632	GRCh37/hg19 7q11.23(chr7:72772522-74133319)	ABHD11, ABHD11-AS1 +23 more	Copy number loss	Williams syndrome	GPathogenic
Select item 625631	GRCh37/hg19 7q11.23(chr7:72700996-74142190)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 625630	GRCh37/hg19 7q11.23(chr7:72744494-76038818)	ABHD11, ABHD11-AS1 +44 more	Copy number loss	Williams syndrome	GPathogenic
Select item 625629	GRCh37/hg19 7q11.23(chr7:72744494-74339044)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 625551	GRCh37/hg19 7q11.23(chr7:72721449-73959106)	ABHD11, ABHD11-AS1 +24 more	Copy number loss	Williams syndrome	GPathogenic
Select item 563409	GRCh37/hg19 7q11.23(chr7:72577021-74859638)x3	BAZ1B, ABHD11 +30 more	Copy number gain	not provided	GPathogenic
Select item 563406	GRCh37/hg19 7q11.23(chr7:72612042-74574641)x1	ABHD11-AS1, GTF2IRD1 +29 more	Copy number loss	not provided	GPathogenic
Select item 563405	GRCh37/hg19 7q11.23(chr7:72589515-74386749)x1	STX1A, EIF4H +27 more	Copy number loss	not provided	GPathogenic
Select item 563403	GRCh37/hg19 7q11.23(chr7:72608514-74386749)x1	ABHD11, ABHD11-AS1 +27 more	Copy number loss	not provided	GPathogenic
Select item 563399	GRCh37/hg19 7q11.23(chr7:72576872-74175429)x3	MIR590, EIF4H +25 more	Copy number gain	not provided	GPathogenic
Select item 563398	GRCh37/hg19 7q11.23(chr7:72577021-74147166)x3	MIR590, MLXIPL +25 more	Copy number gain	not provided	GPathogenic
Select item 563397	GRCh37/hg19 7q11.23(chr7:72701018-74143240)x3	CLDN3, CLDN4 +25 more	Copy number gain	not provided	GPathogenic
Select item 563396	GRCh37/hg19 7q11.23(chr7:72718123-74141784)x1	LIMK1, RFC2 +25 more	Copy number loss	not provided	GPathogenic
Select item 563394	GRCh37/hg19 7q11.23(chr7:72700524-74069858)x3	METTL27, ABHD11-AS1 +24 more	Copy number gain	not provided	GPathogenic
Select item 563354	GRCh37/hg19 7q11.23(chr7:72686958-73113924)x3	TRIM50, BUD23 +10 more	Copy number gain	not provided	GUncertain significance
Select item 559583	Single allele	BCL7B, MIR590 +25 more	Duplication	Intestinal malrotation	GLikely pathogenic
Select item 545350	Single allele	ABHD11, ABHD11-AS1 +128 more	Duplication	Autism	GPathogenic
Select item 545349	Single allele	ABHD11, ABHD11-AS1 +128 more	Duplication	Schizophrenia	GPathogenic
Select item 523284	GRCh37/hg19 7q11.23(chr7:72772522-74133319)	CLDN3, CLDN4 +23 more	Copy number loss	Decreased body weight +14 more	GPathogenic
Select item 523283	GRCh37/hg19 7q11.23(chr7:72766313-74133332)	ABHD11, ABHD11-AS1 +23 more	Copy number loss	Generalized hypotonia +2 more	GPathogenic
Select item 446341	GRCh37/hg19 7q11.23(chr7:72722981-73198616)x1	BUD23, ABHD11 +12 more	Copy number loss	See cases	GUncertain significance
Select item 443917	GRCh37/hg19 7q11.23(chr7:72677301-74143240)x3	ABHD11, ABHD11-AS1 +25 more	Copy number gain	See cases	GPathogenic
Select item 443819	GRCh37/hg19 7q11.23(chr7:72718277-74141494)x1	ABHD11, ABHD11-AS1 +25 more	Copy number loss	See cases	GPathogenic

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