RNF133[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129998995, LOC129998996 +2212 more	Copy number gain	See cases	GPathogenic
Select item 60286	GRCh38/hg38 7q31.1-31.33(chr7:113799835-124899218)x1	AASS, ANKRD7 +248 more	Copy number loss	See cases	GPathogenic
Select item 145985	GRCh38/hg38 7q31.1-31.33(chr7:114142477-125840381)x1	AASS, ANKRD7 +253 more	Copy number loss	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	LOC129999548, LOC129999549 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	AASS, AHCYL2 +492 more	Copy number loss	See cases	GPathogenic
Select item 148054	GRCh38/hg38 7q31.32(chr7:121461314-122882795)x1	AASS, CADPS2 +12 more	Copy number loss	See cases	GUncertain significance
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	CADPS2, CALD1 +1380 more	Copy number gain	See cases	GPathogenic
Select item 154454	GRCh38/hg38 7q31.32-32.1(chr7:122018122-128907727)x1	AASS, ARF5 +163 more	Copy number loss	See cases	GPathogenic
Select item 59652	GRCh38/hg38 7q31.32(chr7:122563002-123338792)x3	CADPS2, LOC129999213 +10 more	Copy number gain	See cases	GUncertain significance
Select item 59655	GRCh38/hg38 7q31.32(chr7:122651517-123044665)x3	CADPS2, LOC129999213 +8 more	Copy number gain	See cases	GUncertain significance
Select item 152753	GRCh38/hg38 7q31.32(chr7:122680365-122772439)x1	CADPS2, RNF133 +1 more	Copy number loss	See cases	GUncertain significance
Select item 148238	GRCh38/hg38 7q31.32(chr7:122685810-122731540)x1	CADPS2, RNF133 +1 more	Copy number loss	See cases	GLikely benign
Select item 2528702	NM_139175.2(RNF133):c.973C>G (p.Leu325Val)	CADPS2, RNF133 (L325V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2275660	NM_139175.2(RNF133):c.940A>G (p.Thr314Ala)	RNF133, CADPS2 (T314A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2516938	NM_139175.2(RNF133):c.802A>G (p.Ile268Val)	CADPS2, RNF133 (I268V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2591121	NM_139175.2(RNF133):c.685G>A (p.Asp229Asn)	CADPS2, RNF133 (D229N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2543433	NM_139175.2(RNF133):c.662G>A (p.Arg221Gln)	CADPS2, RNF133 (R221Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2228141	NM_139175.2(RNF133):c.386T>C (p.Ile129Thr)	CADPS2, RNF133 (I129T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2529813	NM_139175.2(RNF133):c.358A>G (p.Thr120Ala)	CADPS2, RNF133 (T120A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2364067	NM_139175.2(RNF133):c.334T>A (p.Phe112Ile)	RNF133, CADPS2 (F112I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2540235	NM_139175.2(RNF133):c.319C>T (p.Arg107Trp)	CADPS2, RNF133 (R107W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2247301	NM_139175.2(RNF133):c.286A>G (p.Lys96Glu)	CADPS2, RNF133 (K96E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2474578	NM_139175.2(RNF133):c.266A>G (p.Asn89Ser)	CADPS2, RNF133 (N89S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2485415	NM_139175.2(RNF133):c.134C>T (p.Ser45Leu)	CADPS2, RNF133 (S45L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2289636	NM_139175.2(RNF133):c.121T>C (p.Tyr41His)	RNF133, CADPS2 (Y41H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2277322	NM_139175.2(RNF133):c.64A>G (p.Ser22Gly)	RNF133, CADPS2 (S22G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2283876	NM_139175.2(RNF133):c.56T>G (p.Met19Arg)	RNF133, CADPS2 (M19R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3062992	GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1	AASS, AGBL3 +100 more	Copy number loss	not specified	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 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1687716	Single allele	FEZF1, GPR37 +38 more	Deletion	Delayed speech and language development	GLikely pathogenic
Select item 1527383	GRCh37/hg19 7q22.3-32.1(chr7:106984287-128949489)	PRRT4, PTPRZ1 +92 more	Copy number gain	not specified	GPathogenic
Select item 1047873	GRCh37/hg19 7q31.2-31.33(chr7:116297277-126370694)	POT1, PTPRZ1 +35 more	Copy number loss	Short stature +2 more	GPathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 815014	GRCh37/hg19 7q22.3-31.32(chr7:106617406-123217914)x1	TMEM168, LAMB4 +59 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 687212	GRCh37/hg19 7q31.32-32.2(chr7:121480906-129389003)x1	AASS, AHCYL2 +46 more	Copy number loss	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 253455	GRCh37/hg19 7q31.1-32.1(chr7:111613396-127897316)x1	AASS, RNU2-1 +57 more	Copy number loss	See cases	GPathogenic

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Items: 43