ClinVar for Gene (Select 57186) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3312610	NM_020343.4(RALGAPA2):c.1340G>A (p.Arg447Lys)	RALGAPA2 (R447K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3312609	NM_020343.4(RALGAPA2):c.2227G>A (p.Glu743Lys)	RALGAPA2 (E743K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312608	NM_020343.4(RALGAPA2):c.1522G>A (p.Val508Ile)	RALGAPA2 (V508I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312607	NM_020343.4(RALGAPA2):c.5086G>A (p.Gly1696Ser)	RALGAPA2 (G1696S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312606	NM_020343.4(RALGAPA2):c.3742T>G (p.Ser1248Ala)	RALGAPA2 (S1248A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312605	NM_020343.4(RALGAPA2):c.496A>G (p.Arg166Gly)	RALGAPA2 (R166G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312604	NM_020343.4(RALGAPA2):c.2930A>C (p.Asp977Ala)	RALGAPA2 (D977A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312603	NM_020343.4(RALGAPA2):c.3085G>A (p.Val1029Ile)	RALGAPA2 (V1029I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312602	NM_020343.4(RALGAPA2):c.5104A>G (p.Ser1702Gly)	RALGAPA2 (S1702G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312601	NM_020343.4(RALGAPA2):c.3170C>T (p.Thr1057Met)	RALGAPA2 (T1057M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312598	NM_020343.4(RALGAPA2):c.4388T>C (p.Val1463Ala)	RALGAPA2 (V1463A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312597	NM_020343.4(RALGAPA2):c.5543G>A (p.Arg1848His)	RALGAPA2 (R1848H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312596	NM_020343.4(RALGAPA2):c.2798G>A (p.Arg933Gln)	RALGAPA2 (R933Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312595	NM_020343.4(RALGAPA2):c.4966G>A (p.Glu1656Lys)	RALGAPA2 (E1656K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312594	NM_020343.4(RALGAPA2):c.3128T>C (p.Met1043Thr)	RALGAPA2 (M1043T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312593	NM_020343.4(RALGAPA2):c.4634C>A (p.Pro1545His)	RALGAPA2 (P1545H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151289	NM_020343.4(RALGAPA2):c.992C>T (p.Pro331Leu)	RALGAPA2 (P331L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151288	NM_020343.4(RALGAPA2):c.944A>G (p.Lys315Arg)	RALGAPA2 (K315R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151287	NM_020343.4(RALGAPA2):c.898C>T (p.Arg300Cys)	RALGAPA2 (R300C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151286	NM_020343.4(RALGAPA2):c.860A>C (p.Glu287Ala)	RALGAPA2 (E287A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151285	NM_020343.4(RALGAPA2):c.748C>G (p.Leu250Val)	RALGAPA2 (L250V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151284	NM_020343.4(RALGAPA2):c.655A>T (p.Met219Leu)	RALGAPA2 (M219L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151282	NM_020343.4(RALGAPA2):c.5332C>G (p.His1778Asp)	RALGAPA2 (H1778D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151281	NM_020343.4(RALGAPA2):c.4948G>A (p.Ala1650Thr)	RALGAPA2 (A1650T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151280	NM_020343.4(RALGAPA2):c.4711G>A (p.Glu1571Lys)	RALGAPA2 (E1571K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151279	NM_020343.4(RALGAPA2):c.4697G>A (p.Arg1566His)	RALGAPA2 (R1566H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151278	NM_020343.4(RALGAPA2):c.4550A>G (p.Asp1517Gly)	RALGAPA2 (D1517G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151277	NM_020343.4(RALGAPA2):c.4364C>G (p.Ser1455Cys)	RALGAPA2 (S1455C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3151276	NM_020343.4(RALGAPA2):c.4325C>T (p.Thr1442Ile)	RALGAPA2 (T1442I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151275	NM_020343.4(RALGAPA2):c.4037A>G (p.Gln1346Arg)	RALGAPA2 (Q1346R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151274	NM_020343.4(RALGAPA2):c.3899G>A (p.Arg1300Lys)	RALGAPA2 (R1300K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151273	NM_020343.4(RALGAPA2):c.3874G>T (p.Ala1292Ser)	RALGAPA2 (A1292S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151272	NM_020343.4(RALGAPA2):c.3856G>A (p.Glu1286Lys)	RALGAPA2 (E1286K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151271	NM_020343.4(RALGAPA2):c.3694A>G (p.Ile1232Val)	RALGAPA2 (I1232V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151270	NM_020343.4(RALGAPA2):c.3470C>A (p.Ala1157Glu)	RALGAPA2 (A1157E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151269	NM_020343.4(RALGAPA2):c.3193C>T (p.Arg1065Cys)	RALGAPA2 (R1065C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151268	NM_020343.4(RALGAPA2):c.3002C>T (p.Ala1001Val)	RALGAPA2 (A1001V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151267	NM_020343.4(RALGAPA2):c.2905C>T (p.Arg969Trp)	RALGAPA2 (R969W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151266	NM_020343.4(RALGAPA2):c.2737A>G (p.Ser913Gly)	RALGAPA2 (S913G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151265	NM_020343.4(RALGAPA2):c.2698A>G (p.Asn900Asp)	RALGAPA2 (N900D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151264	NM_020343.4(RALGAPA2):c.2369C>T (p.Ser790Leu)	RALGAPA2 (S790L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3151263	NM_020343.4(RALGAPA2):c.2246G>A (p.Gly749Glu)	RALGAPA2 (G749E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3151262	NM_020343.4(RALGAPA2):c.2230A>C (p.Asn744His)	RALGAPA2 (N744H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151261	NM_020343.4(RALGAPA2):c.1846T>A (p.Ser616Thr)	RALGAPA2 (S616T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151260	NM_020343.4(RALGAPA2):c.1250C>T (p.Ser417Phe)	RALGAPA2 (S417F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151259	NM_020343.4(RALGAPA2):c.121A>G (p.Asn41Asp)	RALGAPA2 (N41D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151258	NM_020343.4(RALGAPA2):c.1177C>G (p.Arg393Gly)	RALGAPA2 (R393G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148932	GRCh37/hg19 20p11.23(chr20:19135948-20372082)x3	CFAP61, CRNKL1 +5 more	Copy number gain	See cases	GUncertain significance
Select item 3068499	Single allele	CFAP61, CRNKL1 +10 more	Complex	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
Select item 3068498	NC_000020.10:g.16400000_24400000del	BANF2, BFSP1 +49 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3068497	NC_000020.10:g.18200000_22600000del	CFAP61, CRNKL1 +19 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3068496	NC_000020.10:g.19434987_22528253del	CFAP61, CRNKL1 +10 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3068495	NC_000020.10:g.20158646_24080787del	CD93, CFAP61 +24 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	THBD, TMC2 +164 more	Copy number gain	not provided	GPathogenic
Select item 2652234	NM_020343.4(RALGAPA2):c.3336A>G (p.Pro1112=)	RALGAPA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652233	NM_020343.4(RALGAPA2):c.4365T>G (p.Ser1455=)	RALGAPA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652232	NM_020343.4(RALGAPA2):c.5506C>T (p.Arg1836Ter)	RALGAPA2 (R1836*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2622887	NM_020343.4(RALGAPA2):c.2794T>C (p.Trp932Arg)	RALGAPA2 (W932R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620385	NM_020343.4(RALGAPA2):c.1705A>G (p.Ile569Val)	RALGAPA2 (I569V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618578	NM_020343.4(RALGAPA2):c.4139C>T (p.Ala1380Val)	RALGAPA2 (A1380V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609504	NM_020343.4(RALGAPA2):c.3205C>G (p.Leu1069Val)	RALGAPA2 (L1069V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606962	NM_020343.4(RALGAPA2):c.4616A>G (p.Gln1539Arg)	RALGAPA2 (Q1539R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594937	NM_020343.4(RALGAPA2):c.2159C>T (p.Pro720Leu)	RALGAPA2 (P720L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590348	NM_020343.4(RALGAPA2):c.628T>G (p.Phe210Val)	RALGAPA2 (F210V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 2568937	NM_020343.4(RALGAPA2):c.325A>G (p.Ile109Val)	RALGAPA2 (I109V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568857	NM_020343.4(RALGAPA2):c.2540C>A (p.Thr847Asn)	RALGAPA2 (T847N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550204	NM_020343.4(RALGAPA2):c.5171G>A (p.Arg1724Gln)	RALGAPA2 (R1724Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540382	NM_020343.4(RALGAPA2):c.1213G>A (p.Val405Met)	RALGAPA2 (V405M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535583	NM_020343.4(RALGAPA2):c.5150T>C (p.Val1717Ala)	RALGAPA2 (V1717A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535176	NM_020343.4(RALGAPA2):c.4839G>T (p.Met1613Ile)	RALGAPA2 (M1613I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515505	NM_020343.4(RALGAPA2):c.5062T>C (p.Ser1688Pro)	RALGAPA2 (S1688P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514549	NM_020343.4(RALGAPA2):c.1651C>T (p.Arg551Cys)	RALGAPA2 (R551C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514203	NM_020343.4(RALGAPA2):c.2906G>A (p.Arg969Gln)	RALGAPA2 (R969Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509493	NM_020343.4(RALGAPA2):c.2288G>A (p.Arg763Gln)	RALGAPA2 (R763Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486872	NM_020343.4(RALGAPA2):c.244C>G (p.Leu82Val)	RALGAPA2 (L82V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484433	NM_020343.4(RALGAPA2):c.1850G>A (p.Arg617Gln)	RALGAPA2 (R617Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475980	NM_020343.4(RALGAPA2):c.1683G>T (p.Lys561Asn)	RALGAPA2 (K561N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473853	NM_020343.4(RALGAPA2):c.3808T>G (p.Leu1270Val)	RALGAPA2 (L1270V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472701	NM_020343.4(RALGAPA2):c.2072T>G (p.Val691Gly)	RALGAPA2 (V691G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470371	NM_020343.4(RALGAPA2):c.5461G>T (p.Ala1821Ser)	RALGAPA2 (A1821S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470225	NM_020343.4(RALGAPA2):c.2629A>G (p.Thr877Ala)	RALGAPA2 (T877A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455430	NM_020343.4(RALGAPA2):c.1915G>A (p.Glu639Lys)	RALGAPA2 (E639K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2429053	NM_020343.4(RALGAPA2):c.1288T>C (p.Tyr430His)	RALGAPA2 (Y430H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2411807	NM_020343.4(RALGAPA2):c.2305G>T (p.Asp769Tyr)	RALGAPA2 (D769Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409700	NM_020343.4(RALGAPA2):c.3835G>A (p.Val1279Met)	RALGAPA2 (V1279M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408157	NM_020343.4(RALGAPA2):c.3452A>G (p.Glu1151Gly)	RALGAPA2 (E1151G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407623	NM_020343.4(RALGAPA2):c.3535C>G (p.His1179Asp)	RALGAPA2 (H1179D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407297	NM_020343.4(RALGAPA2):c.3284C>T (p.Thr1095Met)	RALGAPA2 (T1095M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394708	NM_020343.4(RALGAPA2):c.3226A>G (p.Met1076Val)	RALGAPA2 (M1076V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392026	NM_020343.4(RALGAPA2):c.3113A>T (p.His1038Leu)	RALGAPA2 (H1038L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389698	NM_020343.4(RALGAPA2):c.2305G>A (p.Asp769Asn)	RALGAPA2 (D769N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387960	NM_020343.4(RALGAPA2):c.2641G>C (p.Val881Leu)	RALGAPA2 (V881L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386436	NM_020343.4(RALGAPA2):c.2614G>A (p.Asp872Asn)	RALGAPA2 (D872N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382636	NM_020343.4(RALGAPA2):c.1791A>C (p.Leu597Phe)	RALGAPA2 (L597F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377813	NM_020343.4(RALGAPA2):c.4406A>G (p.Lys1469Arg)	RALGAPA2 (K1469R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373579	NM_020343.4(RALGAPA2):c.4243G>A (p.Glu1415Lys)	RALGAPA2 (E1415K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370672	NM_020343.4(RALGAPA2):c.3261G>T (p.Arg1087Ser)	RALGAPA2 (R1087S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368197	NM_020343.4(RALGAPA2):c.5379T>G (p.Phe1793Leu)	RALGAPA2 (F1793L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362631	NM_020343.4(RALGAPA2):c.3814G>A (p.Val1272Met)	RALGAPA2 (V1272M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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