5906[Gene ID] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LOC129388571, LOC129388572 +563 more	Copy number gain	See cases	GPathogenic
Select item 154693	GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1	ADORA3, AHCYL1 +274 more	Copy number loss	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 1222916	NM_002884.4(RAP1A):c.-27-215T>C	RAP1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248083	NM_002884.4(RAP1A):c.-27-158G>A	RAP1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3151482	NM_002884.4(RAP1A):c.5G>A (p.Arg2His)	RAP1A (R2H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1249165	NM_002884.4(RAP1A):c.57+29T>A	RAP1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230259	NM_002884.4(RAP1A):c.57+45G>T	RAP1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239631	NM_002884.4(RAP1A):c.57+176C>T	RAP1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240525	NM_002884.4(RAP1A):c.58-130_58-129insATATTA	RAP1A	Insertion (intron variant)	not provided	GBenign
Select item 1246461	NM_002884.4(RAP1A):c.58-48A>T	RAP1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3052287	NM_002884.4(RAP1A):c.58-8del	RAP1A	Deletion (intron variant)	RAP1A-related disorder	GLikely benign
Select item 715994	NM_002884.4(RAP1A):c.58-9T>C	RAP1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 758615	NM_002884.4(RAP1A):c.69T>C (p.Phe23=)	RAP1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1222741	NM_002884.4(RAP1A):c.126+185A>G	RAP1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222792	NM_002884.4(RAP1A):c.127-212C>T	RAP1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253450	NM_002884.4(RAP1A):c.127-11dup	RAP1A	Duplication (intron variant)	not provided	GBenign
Select item 769526	NM_002884.4(RAP1A):c.127-10G>T	RAP1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 723561	NM_002884.4(RAP1A):c.127-10del	RAP1A	Deletion (intron variant)	not provided	GLikely benign
Select item 748111	NM_002884.4(RAP1A):c.127-9C>G	RAP1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 761251	NM_002884.4(RAP1A):c.138C>T (p.Val46=)	RAP1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 718795	NM_002884.4(RAP1A):c.183+6G>A	RAP1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2319934	NM_002884.4(RAP1A):c.317C>T (p.Thr106Met)	RAP1A (T106M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1182895	NM_002884.4(RAP1A):c.325-179dup	RAP1A	Duplication (intron variant)	not provided	GBenign
Select item 1288197	NM_002884.4(RAP1A):c.325-179del	RAP1A	Deletion (intron variant)	not provided	GBenign
Select item 2372804	NM_002884.4(RAP1A):c.331A>G (p.Met111Val)	RAP1A (M111V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317844	NM_002884.4(RAP1A):c.416G>A (p.Cys139Tyr)	RAP1A (C139Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 748010	NM_002884.4(RAP1A):c.426C>A (p.Ala142=)	RAP1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 735795	NM_002884.4(RAP1A):c.552C>T (p.Leu184=)	RAP1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1240502	NM_002884.4(RAP1A):c.*29+16C>T	RAP1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259730	NM_002884.4(RAP1A):c.*29+97C>G	RAP1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271656	NM_002884.4(RAP1A):c.*29+226dup	RAP1A	Duplication (intron variant)	not provided	GBenign
Select item 3063454	GRCh37/hg19 1p13.3-13.2(chr1:109700156-112176616)x1	ADORA3, AHCYL1 +48 more	Copy number loss	not specified	GUncertain significance
Select item 2685577	GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1	ADORA3, AHCYL1 +77 more	Copy number loss	not provided	GPathogenic
Select item 2685555	GRCh37/hg19 1p13.3-13.2(chr1:109483388-112293512)x1	ADORA3, AHCYL1 +54 more	Copy number loss	not provided	GPathogenic
Select item 2424614	NC_000001.10:g.(?_111145905)_(114454813_?)del	ADORA3, AP4B1 +34 more	Deletion	not provided	GPathogenic
Select item 1527270	GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783)	NHLH2, NOTCH2 +78 more	Copy number gain	not specified	GPathogenic
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 688916	GRCh37/hg19 1p13.3-13.2(chr1:110994179-112360446)x1	ADORA3, ATP5PB +19 more	Copy number loss	not provided	GPathogenic
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic

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Items: 44