ClinVar for Gene (Select 5991) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3153478	NM_001282116.2(RFX3):c.252G>A (p.Met84Ile)	RFX3 (M84I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148906	GRCh37/hg19 9p24.2(chr9:2527902-4077112)x3	GLIS3, KCNV2 +3 more	Copy number gain	See cases	GUncertain significance
Select item 3063123	GRCh37/hg19 9p24.3-24.1(chr9:203862-8548307)x1	AK3, BRD10 +37 more	Copy number loss	not specified	GPathogenic
Select item 3063089	GRCh37/hg19 9p24.3-23(chr9:203861-9128400)x1	AK3, BRD10 +37 more	Copy number loss	not specified	GPathogenic
Select item 3063083	GRCh37/hg19 9p24.2(chr9:3139287-3274741)x3	RFX3	Copy number gain	not specified	GUncertain significance
Select item 3063080	GRCh37/hg19 9p24.3-22.3(chr9:203861-15508556)x1	AK3, BRD10 +47 more	Copy number loss	not specified	GPathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 3063070	GRCh37/hg19 9p24.3-22.1(chr9:203861-19302836)x1	ADAMTSL1, AK3 +57 more	Copy number loss	not specified	GPathogenic
Select item 3061459	NM_001282116.2(RFX3):c.218G>T (p.Arg73Leu)	RFX3 (R73L)	Single nucleotide variant (missense variant)	RFX3-related disorder	GUncertain significance
Select item 3056824	NM_001282116.2(RFX3):c.1968+81G>A	RFX3	Single nucleotide variant (synonymous variant +1 more)	RFX3-related disorder	GBenign
Select item 3050275	NM_001282116.2(RFX3):c.1008T>A (p.Val336=)	RFX3	Single nucleotide variant (synonymous variant)	RFX3-related disorder	GBenign
Select item 3049238	NM_001282116.2(RFX3):c.1881T>C (p.Arg627=)	RFX3	Single nucleotide variant (synonymous variant)	RFX3-related disorder	GLikely benign
Select item 3048670	NM_001282116.2(RFX3):c.216-9C>A	RFX3	Single nucleotide variant (intron variant)	RFX3-related disorder	GLikely benign
Select item 3047278	NM_001282116.2(RFX3):c.215+9A>G	RFX3	Single nucleotide variant (intron variant)	RFX3-related disorder	GLikely benign
Select item 3046229	NM_001282116.2(RFX3):c.1455+9T>C	RFX3	Single nucleotide variant (intron variant)	RFX3-related disorder	GLikely benign
Select item 3042204	NM_001282116.2(RFX3):c.2188G>A (p.Val730Ile)	RFX3 (V730I +1 more)	Single nucleotide variant (missense variant)	RFX3-related disorder	GLikely benign
Select item 3039089	NM_001282116.2(RFX3):c.1779C>T (p.Ala593=)	RFX3	Single nucleotide variant (synonymous variant)	RFX3-related disorder	GLikely benign
Select item 3035443	NM_001282116.2(RFX3):c.345T>C (p.Thr115=)	RFX3	Single nucleotide variant (synonymous variant)	RFX3-related disorder	GLikely benign
Select item 2684570	GRCh37/hg19 9p24.2(chr9:3399058-3729674)x3	RFX3	Copy number gain	not provided	GUncertain significance
Select item 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	ACER2, ACO1 +188 more	Copy number gain	not provided	GPathogenic
Select item 2671611	Single allele	AK3, BNC2 +49 more	Deletion	not provided	GPathogenic
Select item 2659039	NM_001282116.2(RFX3):c.556T>G (p.Trp186Gly)	RFX3 (W186G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2659038	NM_001282116.2(RFX3):c.1609C>T (p.Gln537Ter)	RFX3 (Q537*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2636911	NM_001282116.2(RFX3):c.1298A>G (p.His433Arg)	RFX3 (H433R)	Single nucleotide variant (missense variant)	RFX3-related disorder	GUncertain significance
Select item 2630540	NM_001282116.2(RFX3):c.855C>G (p.Tyr285Ter)	RFX3 (Y285*)	Single nucleotide variant (nonsense)	RFX3-related disorder	GLikely pathogenic
Select item 2629286	NM_001282116.2(RFX3):c.1772C>G (p.Pro591Arg)	RFX3 (P591R)	Single nucleotide variant (missense variant)	RFX3-related disorder	GUncertain significance
Select item 2629212	NM_001282116.2(RFX3):c.1672A>G (p.Met558Val)	RFX3 (M558V)	Single nucleotide variant (missense variant)	RFX3-related disorder	GUncertain significance
Select item 2618298	NM_001282116.2(RFX3):c.2092G>C (p.Glu698Gln)	RFX3 (E719Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544227	NM_001282116.2(RFX3):c.2204C>G (p.Thr735Ser)	RFX3 (T756S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540440	NM_001282116.2(RFX3):c.139C>G (p.Gln47Glu)	RFX3 (Q47E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507117	NM_001282116.2(RFX3):c.1819A>G (p.Met607Val)	RFX3 (M607V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505190	NM_001282116.2(RFX3):c.997T>A (p.Phe333Ile)	RFX3 (F333I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503190	NM_001282116.2(RFX3):c.1675A>T (p.Thr559Ser)	RFX3 (T559S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499498	NM_001282116.2(RFX3):c.1486_1487del (p.Leu496fs)	RFX3 (L496fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2499497	NM_001282116.2(RFX3):c.584_586del (p.Glu195del)	RFX3 (E195del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2492618	NM_001282116.2(RFX3):c.926T>C (p.Val309Ala)	RFX3 (V309A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466543	NM_001282116.2(RFX3):c.2159T>G (p.Leu720Arg)	RFX3 (L720R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2430035	NM_001282116.2(RFX3):c.1801T>C (p.Trp601Arg)	RFX3 (W601R)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GUncertain significance
Select item 2429854	NM_001282116.2(RFX3):c.1473del (p.Phe492fs)	RFX3 (F492fs)	Deletion (frameshift variant)	Developmental disorder	GLikely pathogenic
Select item 2399035	NM_001282116.2(RFX3):c.455C>T (p.Thr152Ile)	RFX3 (T152I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342040	NM_001282116.2(RFX3):c.505T>A (p.Ser169Thr)	RFX3 (S169T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310354	NM_001282116.2(RFX3):c.1215A>C (p.Glu405Asp)	RFX3 (E405D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307904	NM_001282116.2(RFX3):c.244A>G (p.Thr82Ala)	RFX3 (T82A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255097	NM_001282116.2(RFX3):c.665C>A (p.Ala222Asp)	RFX3 (A222D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218277	NM_001282116.2(RFX3):c.433G>C (p.Gly145Arg)	RFX3 (G145R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209094	NM_001282116.2(RFX3):c.904G>A (p.Gly302Ser)	RFX3 (G302S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1808100	GRCh37/hg19 9p24.2(chr9:2325086-3426358)x3	KCNV2, PUM3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1807859	GRCh37/hg19 9p24.3-24.1(chr9:203862-5958840)x4	AK3, CD274 +29 more	Copy number gain	not provided	GLikely pathogenic
Select item 1712774	NM_001282116.2(RFX3):c.1646T>A (p.Val549Asp)	RFX3 (V549D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712325	NM_001282116.2(RFX3):c.115C>T (p.Gln39Ter)	RFX3 (Q39*)	Single nucleotide variant (nonsense)	RFX3-associated neurodevelopmental disorder	GLikely pathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1710415	NM_001282116.2(RFX3):c.973+3A>G	RFX3	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 1708182	GRCh37/hg19 9p24.3-22.3(chr9:203861-15048247)x1	DMRT3, DOCK8 +44 more	Copy number loss	See cases	GPathogenic
Select item 1707628	GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3	FOXD4, PLGRKT +199 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1706515	GRCh37/hg19 9p24.3-23(chr9:203861-10283912)x1	KIAA2026, RLN2 +37 more	Copy number loss	See cases	GPathogenic
Select item 1706380	NM_001282116.2(RFX3):c.-9+35393A>G	RFX3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1706285	NM_001282116.2(RFX3):c.1546A>G (p.Thr516Ala)	RFX3 (T516A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704647	GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3	ACER2, ACO1 +169 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1703682	GRCh37/hg19 9p24.3-24.1(chr9:203861-7959823)	AK3, CD274 +36 more	Copy number loss	Chromosome 9p deletion syndrome	GPathogenic
Select item 1703680	GRCh37/hg19 9p24.3-23(chr9:203861-12570076)	AK3, CD274 +37 more	Copy number loss	Chromosome 9p deletion syndrome	GPathogenic
Select item 1703678	GRCh37/hg19 9p24.3-23(chr9:203861-12127088)	AK3, CD274 +37 more	Copy number loss	Chromosome 9p deletion syndrome	GPathogenic
Select item 1703576	GRCh37/hg19 9p24.3-q13(chr9:203861-68342786)	ACER2, ACO1 +204 more	Copy number gain	Bradycardia	GPathogenic
Select item 1703570	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)	ACER2, ACO1 +204 more	Copy number gain	Tetrasomy 9p	GPathogenic
Select item 1701884	NM_001282116.2(RFX3):c.763C>T (p.Arg255Cys)	RFX3 (R255C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 1699538	NM_001282116.2(RFX3):c.1502C>T (p.Ser501Leu)	RFX3 (S501L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1684649	Single allele	LOC130001549, LOC130001550 +233 more	Deletion	Chromosome 9p deletion syndrome	GPathogenic
Select item 1679623	NM_001282116.2(RFX3):c.2179G>C (p.Glu727Gln)	RFX3 (E727Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676453	NM_134428.3(RFX3):c.223A>G (p.Thr75Ala)	RFX3 (T75A)	Single nucleotide variant	not provided	GUncertain significance
Select item 1527496	GRCh37/hg19 9p24.3-24.2(chr9:1196289-4322298)	GLIS3, KCNV2 +4 more	Copy number gain	not specified	GUncertain significance
Select item 1527495	GRCh37/hg19 9p24.3-13.3(chr9:676264-33743670)	RIGI, RLN1 +114 more	Copy number gain	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1527488	GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	CDKN2B-AS1, ABHD17B +257 more	Copy number gain	not specified	GPathogenic
Select item 1527487	GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)	ACO1, IFNA8 +205 more	Copy number gain	not specified	GPathogenic
Select item 1527485	GRCh37/hg19 9p24.3-22.2(chr9:203861-16856907)	AK3, BNC2 +49 more	Copy number loss	not specified	GPathogenic
Select item 1527484	GRCh37/hg19 9p24.3-22.3(chr9:203861-15211277)	AK3, CD274 +45 more	Copy number loss	not specified	GPathogenic
Select item 1527483	GRCh37/hg19 9p24.3-22.3(chr9:203861-14694074)	AK3, CD274 +42 more	Copy number loss	not specified	GPathogenic
Select item 1527482	GRCh37/hg19 9p24.3-22.3(chr9:203861-14322268)	AK3, CD274 +41 more	Copy number loss	not specified	GPathogenic
Select item 1527480	GRCh37/hg19 9p24.3-23(chr9:203861-11414732)	AK3, CD274 +37 more	Copy number loss	not specified	GPathogenic
Select item 1527479	GRCh37/hg19 9p24.3-23(chr9:203861-9631665)	AK3, CD274 +37 more	Copy number loss	not specified	GPathogenic
Select item 1527478	GRCh37/hg19 9p24.3-24.1(chr9:203861-8735462)	AK3, CD274 +37 more	Copy number loss	not specified	GPathogenic
Select item 1527477	GRCh37/hg19 9p24.3-24.1(chr9:203861-7759331)	AK3, CD274 +35 more	Copy number loss	not specified	GPathogenic
Select item 1527476	GRCh37/hg19 9p24.3-24.1(chr9:203861-5909152)	AK3, CD274 +28 more	Copy number loss	not specified	GPathogenic
Select item 1527475	GRCh37/hg19 9p24.3-24.2(chr9:203861-4342995)	DMRT1, DMRT2 +10 more	Copy number gain	not specified	GUncertain significance
Select item 1527474	GRCh37/hg19 9p24.3-24.2(chr9:203861-3226591)	DMRT1, DMRT2 +9 more	Copy number loss	not specified	GPathogenic
Select item 1341043	GRCh37/hg19 9p24.2(chr9:3253160-3530900)x3	RFX3	Copy number gain	not provided	GUncertain significance
Select item 1311522	NM_001282116.2(RFX3):c.937_938del (p.Val313fs)	RFX3 (V313fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1310956	NM_001282116.2(RFX3):c.1086+1G>A	RFX3	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1065847	NM_001282116.2(RFX3):c.475-3C>G	RFX3	Single nucleotide variant (intron variant)	Attention deficit hyperactivity disorder	GUncertain significance
Select item 1064862	NM_001282116.2(RFX3):c.1708dup (p.Ala570fs)	RFX3 (A570fs)	Duplication (frameshift variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1047891	GRCh37/hg19 9p24.3-22.1(chr9:204193-18654812)	ADAMTSL1, AK3 +52 more	Copy number loss	Trigonocephaly	GPathogenic
Select item 1047875	GRCh37/hg19 9p24.2-24.1(chr9:2854435-6937677)	AK3, CD274 +25 more	Copy number gain	Global developmental delay	GPathogenic
Select item 1042801	NC_000009.11:g.(?_2029023)_(5300444_?)dup	AK3, CDC37L1 +15 more	Duplication	not provided	GUncertain significance
Select item 981212	GRCh37/hg19 9p24.3-22.2(chr9:204193-18073357)x1	AK3, BNC2 +51 more	Copy number loss	Chromosome 9p deletion syndrome	GPathogenic
Select item 980910	GRCh37/hg19 9p24.2(chr9:3321631-3691150)x3	RFX3	Copy number gain	not provided	GUncertain significance
Select item 815190	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3	JAK2, KANK1 +213 more	Copy number gain	not provided	GPathogenic
Select item 815189	GRCh37/hg19 9p24.3-23(chr9:203861-14080419)x1	DOCK8, SPATA6L +40 more	Copy number loss	not provided	GPathogenic
Select item 815188	GRCh37/hg19 9p24.3-23(chr9:203861-14103730)x1	RLN1, RLN2 +41 more	Copy number loss	not provided	GPathogenic
Select item 815187	GRCh37/hg19 9p24.3-23(chr9:203861-10666419)x1	INSL6, PLGRKT +37 more	Copy number loss	not provided	GPathogenic
Select item 815186	GRCh37/hg19 9p24.3-22.2(chr9:203861-17789410)x1	TPD52L3, IL33 +51 more	Copy number loss	not provided	GPathogenic
Select item 788672	NM_001282116.2(RFX3):c.1187C>T (p.Thr396Ile)	RFX3 (T396I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign

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