RAP1GAP[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 59918	GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1	EMC1-AS1, FAM43B +221 more	Copy number loss	See cases	GPathogenic
Select item 149011	GRCh38/hg38 1p36.12(chr1:21399130-22696747)x1	ALPL, C1QA +60 more	Copy number loss	See cases	GUncertain significance
Select item 148288	GRCh38/hg38 1p36.12(chr1:21495674-22049209)x3	ALPL, CELA3A +31 more	Copy number gain	See cases	GUncertain significance
Select item 2355280	NM_002885.4(RAP1GAP):c.1928C>T (p.Ala643Val)	RAP1GAP (A597V +33 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3151487	NM_002885.4(RAP1GAP):c.1909G>A (p.Gly637Ser)	RAP1GAP (G612S +33 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2286842	NM_002885.4(RAP1GAP):c.1805A>G (p.His602Arg)	RAP1GAP (H536R +25 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2638449	NM_002885.4(RAP1GAP):c.1803C>T (p.Pro601=)	RAP1GAP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2356369	NM_002885.4(RAP1GAP):c.1801C>A (p.Pro601Thr)	RAP1GAP (P589T +25 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328587	NM_002885.4(RAP1GAP):c.1784T>C (p.Val595Ala)	RAP1GAP (V487A +25 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536555	NM_002885.4(RAP1GAP):c.1765G>C (p.Asp589His)	RAP1GAP (D434H +25 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551503	NM_002885.4(RAP1GAP):c.1754T>G (p.Val585Gly)	RAP1GAP (V515G +25 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151486	NM_002885.4(RAP1GAP):c.1732G>A (p.Val578Met)	RAP1GAP (V423M +25 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463205	NM_002885.4(RAP1GAP):c.1682C>T (p.Ala561Val)	RAP1GAP (A549V +25 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3312723	NM_002885.4(RAP1GAP):c.1675G>C (p.Ala559Pro)	RAP1GAP (A404P +25 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236428	NM_002885.4(RAP1GAP):c.1601C>T (p.Ser534Leu)	RAP1GAP (S547L +20 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2295909	NM_002885.4(RAP1GAP):c.1516A>G (p.Ile506Val)	RAP1GAP (I478V +20 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228718	NM_002885.4(RAP1GAP):c.1187C>T (p.Thr396Met)	RAP1GAP (T241M +10 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2294376	NM_002885.4(RAP1GAP):c.1112A>G (p.Asn371Ser)	RAP1GAP (N343S +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151484	NM_002885.4(RAP1GAP):c.1099A>G (p.Thr367Ala)	RAP1GAP (T328A +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216807	NM_002885.4(RAP1GAP):c.1052A>C (p.Asp351Ala)	RAP1GAP (D338A +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3151483	NM_002885.4(RAP1GAP):c.1001T>C (p.Val334Ala)	RAP1GAP (V325A +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2307902	NM_002885.4(RAP1GAP):c.652C>A (p.Pro218Thr)	RAP1GAP (P218T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312724	NM_002885.4(RAP1GAP):c.641A>T (p.Asn214Ile)	RAP1GAP (N175I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244305	NM_002885.4(RAP1GAP):c.596A>G (p.Tyr199Cys)	RAP1GAP (Y186C +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3151493	NM_002885.4(RAP1GAP):c.569G>C (p.Ser190Thr)	RAP1GAP (S151T +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2242020	NM_002885.4(RAP1GAP):c.514G>A (p.Val172Met)	RAP1GAP (V17M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312726	NM_002885.4(RAP1GAP):c.383G>A (p.Arg128Gln)	RAP1GAP (R115Q +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2406754	NM_002885.4(RAP1GAP):c.355G>A (p.Asp119Asn)	RAP1GAP (D106N +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2524702	NM_002885.4(RAP1GAP):c.322G>T (p.Ala108Ser)	RAP1GAP (A99S +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2270591	NM_002885.4(RAP1GAP):c.316G>T (p.Asp106Tyr)	RAP1GAP (D93Y +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3151491	NM_002885.4(RAP1GAP):c.279C>G (p.His93Gln)	RAP1GAP (H157Q +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2264273	NM_002885.4(RAP1GAP):c.269A>G (p.Tyr90Cys)	RAP1GAP (Y154C +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3151489	NM_002885.4(RAP1GAP):c.103G>A (p.Glu35Lys)	RAP1GAP (E26K +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3151488	NM_002885.4(RAP1GAP):c.40C>A (p.Arg14Ser)	RAP1GAP (R14S +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2334950	NM_002885.4(RAP1GAP):c.31G>C (p.Asp11His)	RAP1GAP (D11H +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3151485	NM_002885.4(RAP1GAP):c.-62G>A	RAP1GAP (R44Q)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2408051	NM_002885.4(RAP1GAP):c.-74T>C	RAP1GAP (L40P)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3151492	NM_002885.4(RAP1GAP):c.-138T>C	RAP1GAP (S19P)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3151490	NM_002885.4(RAP1GAP):c.-148-1997C>A	RAP1GAP (F10L)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2487769	NM_002885.4(RAP1GAP):c.-148-2005T>C	RAP1GAP (F8L)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3063455	GRCh37/hg19 1p36.12(chr1:21722949-22021145)x3	ALPL, NBPF3 +2 more	Copy number gain	not specified	GUncertain significance
Select item 2685031	GRCh37/hg19 1p36.13-36.12(chr1:17291707-23016395)x4	ACTL8, AKR7A2 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 2424757	NC_000001.10:g.(?_19199339)_(22987879_?)dup	AKR7A2, AKR7A3 +49 more	Duplication	Congenital disorder of glycosylation type Ir +2 more	GUncertain significance
Select item 2422561	NC_000001.10:g.(?_19199339)_(24690861_?)dup	AKR7A2, AKR7A3 +77 more	Duplication	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 1228381	GRCh37/hg19 1p36.13-36.12(chr1:16785250-23491592)x1	FAM43B, HP1BP3 +77 more	Copy number loss	1p36.1 deletion syndrome	GPathogenic
Select item 687574	GRCh37/hg19 1p36.12(chr1:21879314-21953304)x3	ALPL, RAP1GAP	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	NKAIN1, PLA2G2E +783 more	Copy number gain	Global developmental delay +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 221359	chr1:17555508-24706269 complex variant	ACTL8, AKR7A2 +88 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 53