RAPGEF3[gene] - ClinVar

Search results

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 2297744	NM_001098531.4(RAPGEF3):c.2766G>C (p.Glu922Asp)	RAPGEF3 (E922D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715031	NM_001098531.4(RAPGEF3):c.2655C>T (p.Cys885=)	RAPGEF3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3312758	NM_001098531.4(RAPGEF3):c.2633A>G (p.Gln878Arg)	RAPGEF3 (Q878R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342625	NM_001098531.4(RAPGEF3):c.2548C>T (p.Arg850Trp)	LOC126861517, RAPGEF3 (R850W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362830	NM_001098531.4(RAPGEF3):c.2530A>T (p.Met844Leu)	LOC126861517, RAPGEF3 (M844L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544887	NM_001098531.4(RAPGEF3):c.2509A>T (p.Ile837Phe)	LOC126861517, RAPGEF3 (I837F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470067	NM_001098531.4(RAPGEF3):c.2356G>A (p.Ala786Thr)	RAPGEF3 (A744T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151566	NM_001098531.4(RAPGEF3):c.2353T>C (p.Ser785Pro)	RAPGEF3 (S743P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312757	NM_001098531.4(RAPGEF3):c.2341C>T (p.Arg781Trp)	RAPGEF3 (R739W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312753	NM_001098531.4(RAPGEF3):c.2303G>A (p.Arg768His)	RAPGEF3 (R768H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350597	NM_001098531.4(RAPGEF3):c.2302C>T (p.Arg768Cys)	RAPGEF3 (R726C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606759	NM_001098531.4(RAPGEF3):c.2161G>A (p.Glu721Lys)	RAPGEF3 (E679K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312752	NM_001098531.4(RAPGEF3):c.2129G>A (p.Arg710His)	LOC130007763, RAPGEF3 (R668H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622774	NM_001098531.4(RAPGEF3):c.2095G>A (p.Val699Ile)	LOC130007763, RAPGEF3 (V699I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526746	NM_001098531.4(RAPGEF3):c.2089C>T (p.Arg697Trp)	LOC130007763, RAPGEF3 (R655W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785403	NM_001098531.4(RAPGEF3):c.1979T>A (p.Leu660Gln)	LOC130007763, RAPGEF3 (L618Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2296063	NM_001098531.4(RAPGEF3):c.1925T>C (p.Ile642Thr)	RAPGEF3 (I642T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 790861	NM_001098531.4(RAPGEF3):c.1924-3C>T	RAPGEF3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3151564	NM_001098531.4(RAPGEF3):c.1886G>A (p.Arg629His)	RAPGEF3 (R587H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312755	NM_001098531.4(RAPGEF3):c.1885C>T (p.Arg629Cys)	RAPGEF3 (R587C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312760	NM_001098531.4(RAPGEF3):c.1798G>A (p.Val600Met)	RAPGEF3 (V558M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326867	NM_001098531.4(RAPGEF3):c.1793G>C (p.Gly598Ala)	RAPGEF3 (G556A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642919	NM_001098531.4(RAPGEF3):c.1779T>C (p.Asp593=)	RAPGEF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3312756	NM_001098531.4(RAPGEF3):c.1763C>T (p.Ala588Val)	RAPGEF3 (A588V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399343	NM_001098531.4(RAPGEF3):c.1744G>A (p.Val582Met)	RAPGEF3 (V540M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466575	NM_001098531.4(RAPGEF3):c.1739C>A (p.Ala580Asp)	RAPGEF3 (A538D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151563	NM_001098531.4(RAPGEF3):c.1697G>A (p.Arg566Gln)	RAPGEF3 (R566Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517026	NM_001098531.4(RAPGEF3):c.1690A>G (p.Ile564Val)	RAPGEF3 (I522V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151562	NM_001098531.4(RAPGEF3):c.1601G>A (p.Arg534Gln)	RAPGEF3 (R492Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491572	NM_001098531.4(RAPGEF3):c.1577A>G (p.Asn526Ser)	RAPGEF3 (N484S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786228	NM_001098531.4(RAPGEF3):c.1550G>A (p.Cys517Tyr)	RAPGEF3 (C475Y +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2555406	NM_001098531.4(RAPGEF3):c.1547G>A (p.Arg516Gln)	RAPGEF3 (R474Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312763	NM_001098531.4(RAPGEF3):c.1544G>A (p.Arg515Gln)	RAPGEF3 (R473Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151560	NM_001098531.4(RAPGEF3):c.1543C>T (p.Arg515Trp)	RAPGEF3 (R473W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282640	NM_001098531.4(RAPGEF3):c.1524G>C (p.Arg508Ser)	RAPGEF3 (R466S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312762	NM_001098531.4(RAPGEF3):c.1497G>C (p.Arg499Ser)	RAPGEF3 (R499S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293754	NM_001098531.4(RAPGEF3):c.1448A>G (p.Asp483Gly)	RAPGEF3 (D441G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360586	NM_001098531.4(RAPGEF3):c.1345G>A (p.Gly449Ser)	RAPGEF3 (G407S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151559	NM_001098531.4(RAPGEF3):c.1294G>T (p.Ala432Ser)	RAPGEF3 (A390S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734096	NM_001098531.4(RAPGEF3):c.1293C>T (p.Ser431=)	RAPGEF3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2619943	NM_001098531.4(RAPGEF3):c.1258G>A (p.Asp420Asn)	RAPGEF3 (D378N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302957	NM_001098531.4(RAPGEF3):c.1256G>A (p.Ser419Asn)	RAPGEF3 (S419N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204339	NM_001098531.4(RAPGEF3):c.1255A>G (p.Ser419Gly)	RAPGEF3 (S377G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355338	NM_001098531.4(RAPGEF3):c.1235A>T (p.Asp412Val)	RAPGEF3 (D370V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469164	NM_001098531.4(RAPGEF3):c.1133C>T (p.Pro378Leu)	RAPGEF3 (P336L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362702	NM_001098531.4(RAPGEF3):c.1130G>A (p.Arg377Gln)	RAPGEF3 (R377Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458340	NM_001098531.4(RAPGEF3):c.1117G>A (p.Ala373Thr)	RAPGEF3 (A331T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151557	NM_001098531.4(RAPGEF3):c.1088T>C (p.Val363Ala)	RAPGEF3 (V363A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312761	NM_001098531.4(RAPGEF3):c.1082A>G (p.Lys361Arg)	RAPGEF3 (K361R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151556	NM_001098531.4(RAPGEF3):c.1079G>A (p.Gly360Asp)	RAPGEF3 (G360D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518541	NM_001098531.4(RAPGEF3):c.1007G>A (p.Arg336His)	RAPGEF3 (R294H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151555	NM_001098531.4(RAPGEF3):c.1006C>T (p.Arg336Cys)	RAPGEF3 (R294C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594965	NM_001098531.4(RAPGEF3):c.992A>G (p.Asn331Ser)	RAPGEF3 (N289S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301700	NM_001098531.4(RAPGEF3):c.941C>A (p.Ala314Asp)	RAPGEF3 (A272D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769388	NM_001098531.4(RAPGEF3):c.899T>C (p.Leu300Pro)	RAPGEF3 (L258P +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3151575	NM_001098531.4(RAPGEF3):c.811A>T (p.Thr271Ser)	RAPGEF3 (T229S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496096	NM_001098531.4(RAPGEF3):c.782T>C (p.Leu261Pro)	RAPGEF3 (L219P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370374	NM_001098531.4(RAPGEF3):c.773C>T (p.Ala258Val)	RAPGEF3 (A216V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151574	NM_001098531.4(RAPGEF3):c.724C>A (p.His242Asn)	RAPGEF3 (H200N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151573	NM_001098531.4(RAPGEF3):c.697C>G (p.Leu233Val)	RAPGEF3 (L191V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205827	NM_001098531.4(RAPGEF3):c.664C>G (p.Arg222Gly)	RAPGEF3 (R222G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714535	NM_001098531.4(RAPGEF3):c.652A>G (p.Thr218Ala)	RAPGEF3 (T218A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2491976	NM_001098531.4(RAPGEF3):c.611C>T (p.Ala204Val)	RAPGEF3 (A162V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642920	NM_001098531.4(RAPGEF3):c.573C>T (p.Pro191=)	RAPGEF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3151572	NM_001098531.4(RAPGEF3):c.568G>A (p.Glu190Lys)	RAPGEF3 (E148K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151571	NM_001098531.4(RAPGEF3):c.562G>A (p.Glu188Lys)	RAPGEF3 (E146K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151570	NM_001098531.4(RAPGEF3):c.483T>G (p.Asp161Glu)	RAPGEF3 (D161E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598867	NM_001098531.4(RAPGEF3):c.440A>C (p.His147Pro)	RAPGEF3 (H105P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512591	NM_001098531.4(RAPGEF3):c.434G>A (p.Gly145Glu)	RAPGEF3 (G145E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151569	NM_001098531.4(RAPGEF3):c.415A>G (p.Ile139Val)	RAPGEF3 (I97V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723845	NM_001098531.4(RAPGEF3):c.398G>A (p.Arg133Gln)	RAPGEF3 (R91Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3312759	NM_001098531.4(RAPGEF3):c.397C>T (p.Arg133Trp)	RAPGEF3 (R133W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463382	NM_001098531.4(RAPGEF3):c.392C>G (p.Ser131Cys)	RAPGEF3 (S89C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373241	NM_001098531.4(RAPGEF3):c.302G>A (p.Gly101Glu)	RAPGEF3 (G59E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151567	NM_001098531.4(RAPGEF3):c.259G>A (p.Glu87Lys)	RAPGEF3 (E87K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642921	NM_001098531.4(RAPGEF3):c.258C>T (p.Ser86=)	RAPGEF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3151565	NM_001098531.4(RAPGEF3):c.214C>T (p.Arg72Cys)	RAPGEF3, SLC48A1 (R30C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360683	NM_001098531.4(RAPGEF3):c.191G>A (p.Arg64His)	RAPGEF3, SLC48A1 (R22H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714536	NM_001098531.4(RAPGEF3):c.108G>A (p.Pro36=)	RAPGEF3, SLC48A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2323469	NM_001098531.4(RAPGEF3):c.100G>A (p.Val34Met)	RAPGEF3, SLC48A1 (V34M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237777	NM_001098531.4(RAPGEF3):c.80G>C (p.Arg27Pro)	RAPGEF3, SLC48A1 (R27P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2407725	NM_001098531.4(RAPGEF3):c.68T>C (p.Leu23Pro)	RAPGEF3, SLC48A1 (L23P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456617	NM_001098531.4(RAPGEF3):c.15G>T (p.Trp5Cys)	RAPGEF3, SLC48A1 (W5C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063272	GRCh37/hg19 12q12-13.11(chr12:38258635-48235837)x3	ABCD2, ADAMTS20 +34 more	Copy number gain	not specified	GPathogenic
Select item 1710515	GRCh37/hg19 12q12-13.11(chr12:44661149-48921204)x1	AMIGO2, ANO6 +27 more	Copy number loss	not provided	GPathogenic
Select item 1527702	GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)	ABCD2, ADAMTS20 +72 more	Copy number gain	not specified	GPathogenic
Select item 1048618	GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3	PPHLN1, PRICKLE1 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 221992	GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3	ABCD2, ADAMTS20 +92 more	Copy number gain	See cases	GPathogenic

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Items: 93