RABGEF1[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59682	GRCh38/hg38 7p12.1-q11.22(chr7:53274059-68576213)x3	ASL, CCT6A +229 more	Copy number gain	See cases	GPathogenic
Select item 57078	GRCh38/hg38 7q11.21-11.22(chr7:62570287-67823956)x3	ASL, CICP24 +114 more	Copy number gain	See cases	GPathogenic
Select item 154461	GRCh38/hg38 7q11.21-11.23(chr7:62736364-75432710)x1	LOC129998564, LOC129998565 +351 more	Copy number loss	See cases	GPathogenic
Select item 155382	GRCh38/hg38 7q11.21(chr7:62977012-66848675)	ASL, CICP24 +91 more	Copy number gain	See cases	GLikely pathogenic
Select item 154104	GRCh38/hg38 7q11.21-11.23(chr7:62977085-75415352)x3	ABHD11, ABHD11-AS1 +350 more	Copy number gain	See cases	GPathogenic
Select item 57022	GRCh38/hg38 7q11.21-11.22(chr7:64657050-72243063)x1	ASL, GALNT17 +158 more	Copy number loss	See cases	GPathogenic
Select item 150828	GRCh38/hg38 7q11.21(chr7:65835271-66837033)x3	ASL, CRCP +35 more	Copy number gain	See cases	GLikely benign
Select item 151569	GRCh38/hg38 7q11.21(chr7:66678941-66728431)x3	RABGEF1	Copy number gain	See cases	GLikely benign
Select item 753145	NM_014504.3(RABGEF1):c.174G>A (p.Ala58=)	RABGEF1 (G37R)	Single nucleotide variant (5 prime UTR variant +4 more)	not provided	GLikely benign
Select item 3312230	NM_014504.3(RABGEF1):c.241C>T (p.Leu81Phe)	RABGEF1 (L105F +2 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2609259	NM_014504.3(RABGEF1):c.317G>T (p.Ser106Ile)	RABGEF1 (S130I +2 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2536527	NM_014504.3(RABGEF1):c.358G>A (p.Ala120Thr)	RABGEF1 (A120T +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2234161	NM_014504.3(RABGEF1):c.407A>T (p.Asp136Val)	RABGEF1 (D59V +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3150914	NM_014504.3(RABGEF1):c.503A>G (p.His168Arg)	RABGEF1 (H182R +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 1338843	GRCh38/hg38 7q11.21(chr7:66791158-67272772)	LINC02604, LOC121740683 +16 more	Copy number gain	Diaphragmatic hernia	GUncertain significance
Select item 2296799	NM_014504.3(RABGEF1):c.580C>G (p.Gln194Glu)	RABGEF1 (Q195E +6 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2382376	NM_014504.3(RABGEF1):c.746C>T (p.Thr249Met)	RABGEF1 (T166M +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221321	NM_014504.3(RABGEF1):c.772A>G (p.Asn258Asp)	RABGEF1 (N181D +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208672	NM_014504.3(RABGEF1):c.854G>A (p.Arg285Gln)	RABGEF1 (R208Q +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302170	NM_014504.3(RABGEF1):c.868T>G (p.Cys290Gly)	RABGEF1 (C207G +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 732649	NM_014504.3(RABGEF1):c.899A>G (p.Asn300Ser)	RABGEF1 (N217S +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3150916	NM_014504.3(RABGEF1):c.905T>A (p.Ile302Asn)	RABGEF1 (I110N +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150917	NM_014504.3(RABGEF1):c.964A>G (p.Ile322Val)	RABGEF1 (I115V +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 748400	NM_014504.3(RABGEF1):c.1017G>C (p.Thr339=)	RABGEF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3150911	NM_014504.3(RABGEF1):c.1018C>T (p.Arg340Cys)	RABGEF1 (R133C +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307863	NM_014504.3(RABGEF1):c.1147C>T (p.Arg383Cys)	RABGEF1 (R176C +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2606116	NM_014504.3(RABGEF1):c.1171C>T (p.Pro391Ser)	RABGEF1 (P199S +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2213092	NM_014504.3(RABGEF1):c.1197G>T (p.Trp399Cys)	RABGEF1 (W316C +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3150913	NM_014504.3(RABGEF1):c.1232A>G (p.Tyr411Cys)	RABGEF1 (Y219C +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3312233	NM_014504.3(RABGEF1):c.1289A>C (p.Glu430Ala)	RABGEF1 (E223A +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2369719	NM_014504.3(RABGEF1):c.1373T>C (p.Leu458Pro)	RABGEF1 (L381P +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3312232	NM_014504.3(RABGEF1):c.1408A>G (p.Ile470Val)	RABGEF1 (I263V +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2685243	GRCh37/hg19 7q11.21(chr7:66210558-66269051)x1	RABGEF1	Copy number loss	not provided	GUncertain significance
Select item 1809193	GRCh37/hg19 7q11.21(chr7:66085625-66210558)x1	KCTD7, RABGEF1	Copy number loss	not provided	GUncertain significance
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 1488532	NC_000007.13:g.(?_65556983)_(66460414_?)dup	SBDS, ASL +5 more	Duplication	Argininosuccinate lyase deficiency	GLikely pathogenic
Select item 980824	GRCh37/hg19 7q11.21(chr7:66029166-66419818)x3	KCTD7, RABGEF1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 814977	GRCh37/hg19 7q11.21(chr7:65920197-66535478)x3	RABGEF1, TMEM248 +3 more	Copy number gain	not provided	GUncertain significance
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 443613	GRCh37/hg19 7q11.21(chr7:65470729-66599216)x3	ASL, CRCP +6 more	Copy number gain	See cases	GUncertain significance
Select item 443521	GRCh37/hg19 7q11.21-11.22(chr7:63583563-71047246)x1	ASL, AUTS2 +20 more	Copy number loss	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 441950	GRCh37/hg19 7q11.21-11.22(chr7:66082383-67559054)x1	KCTD7, RABGEF1 +3 more	Copy number loss	See cases	GUncertain significance
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 48