RAPGEFL1[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 2358750	NM_016339.6(RAPGEFL1):c.643C>T (p.Arg215Trp)	RAPGEFL1 (R58W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312791	NM_016339.6(RAPGEFL1):c.706G>C (p.Glu236Gln)	RAPGEFL1 (E79Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298302	NM_016339.6(RAPGEFL1):c.808C>A (p.Gln270Lys)	RAPGEFL1 (Q119K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 219336	NM_016339.6(RAPGEFL1):c.851A>G (p.Gln284Arg)	RAPGEFL1 (Q127R +2 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 3151622	NM_016339.6(RAPGEFL1):c.857C>T (p.Pro286Leu)	RAPGEFL1 (P129L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151623	NM_016339.6(RAPGEFL1):c.895C>T (p.Arg299Trp)	RAPGEFL1 (R148W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221165	NM_016339.6(RAPGEFL1):c.1057G>C (p.Glu353Gln)	RAPGEFL1 (E196Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383265	NM_016339.6(RAPGEFL1):c.1059G>T (p.Glu353Asp)	RAPGEFL1 (E196D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151624	NM_016339.6(RAPGEFL1):c.1066G>A (p.Ala356Thr)	RAPGEFL1 (A199T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151625	NM_016339.6(RAPGEFL1):c.1067C>T (p.Ala356Val)	RAPGEFL1 (A205V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404028	NM_016339.6(RAPGEFL1):c.1072C>T (p.Arg358Cys)	RAPGEFL1 (R201C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489599	NM_016339.6(RAPGEFL1):c.1142A>G (p.Asp381Gly)	RAPGEFL1 (D230G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498150	NM_016339.6(RAPGEFL1):c.1264C>T (p.Arg422Ter)	RAPGEFL1 (R265* +2 more)	Single nucleotide variant (nonsense)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2487620	NM_016339.6(RAPGEFL1):c.1277A>G (p.Glu426Gly)	RAPGEFL1 (E269G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253129	NM_016339.6(RAPGEFL1):c.1331A>C (p.His444Pro)	RAPGEFL1 (H293P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253130	NM_016339.6(RAPGEFL1):c.1332T>G (p.His444Gln)	RAPGEFL1 (H287Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304766	NM_016339.6(RAPGEFL1):c.1478C>T (p.Ala493Val)	RAPGEFL1 (A493V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298577	NM_016339.6(RAPGEFL1):c.1528C>G (p.Gln510Glu)	RAPGEFL1 (Q359E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322177	NM_016339.6(RAPGEFL1):c.1534C>G (p.Leu512Val)	RAPGEFL1 (L512V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469931	NM_016339.6(RAPGEFL1):c.1576G>A (p.Ala526Thr)	RAPGEFL1 (A369T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312792	NM_016339.6(RAPGEFL1):c.1791G>A (p.Leu597=)	RAPGEFL1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2307947	NM_016339.6(RAPGEFL1):c.1837A>G (p.Ile613Val)	RAPGEFL1 (I462V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2288235	NM_016339.6(RAPGEFL1):c.1862T>G (p.Leu621Arg)	RAPGEFL1 (L470R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364414	NM_016339.6(RAPGEFL1):c.1889A>G (p.Asn630Ser)	RAPGEFL1 (N479S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486342	NM_016339.6(RAPGEFL1):c.1934A>G (p.Asp645Gly)	RAPGEFL1 (D645G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2424720	NC_000017.10:g.(?_37821613)_(38458253_?)dup	CASC3, CDC6 +20 more	Duplication	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic

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Items: 33