16207[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 146116	GRCh38/hg38 20p12.1-11.22(chr20:17772771-21426789)x1	CFAP61, CFAP61-AS1 +117 more	Copy number loss	See cases	GPathogenic
Select item 2335875	NM_020343.4(RALGAPA2):c.5600A>C (p.Tyr1867Ser)	RALGAPA2 (Y1867S)	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 2652232	NM_020343.4(RALGAPA2):c.5506C>T (p.Arg1836Ter)	RALGAPA2 (R1836*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2219871	NM_020343.4(RALGAPA2):c.5497T>C (p.Tyr1833His)	RALGAPA2 (Y1833H)	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 2346315	NM_020343.4(RALGAPA2):c.5426G>A (p.Ser1809Asn)	RALGAPA2 (S1809N)	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 3151282	NM_020343.4(RALGAPA2):c.5332C>G (p.His1778Asp)	RALGAPA2 (H1778D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789355	NM_020343.4(RALGAPA2):c.5319C>T (p.Tyr1773=)	RALGAPA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2283601	NM_020343.4(RALGAPA2):c.5176C>T (p.Pro1726Ser)	RALGAPA2 (P1726S)	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 2535583	NM_020343.4(RALGAPA2):c.5150T>C (p.Val1717Ala)	RALGAPA2 (V1717A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282047	NM_020343.4(RALGAPA2):c.5117C>T (p.Thr1706Met)	RALGAPA2 (T1706M)	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 3312607	NM_020343.4(RALGAPA2):c.5086G>A (p.Gly1696Ser)	RALGAPA2 (G1696S)	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 2344756	NM_020343.4(RALGAPA2):c.4993C>T (p.Leu1665Phe)	RALGAPA2 (L1665F)	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 3151281	NM_020343.4(RALGAPA2):c.4948G>A (p.Ala1650Thr)	RALGAPA2 (A1650T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288589	NM_020343.4(RALGAPA2):c.4934A>C (p.Glu1645Ala)	RALGAPA2 (E1645A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274891	NM_020343.4(RALGAPA2):c.4921C>A (p.Arg1641Ser)	RALGAPA2 (R1641S)	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 2268361	NM_020343.4(RALGAPA2):c.4760C>T (p.Thr1587Ile)	RALGAPA2 (T1587I)	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 3312593	NM_020343.4(RALGAPA2):c.4634C>A (p.Pro1545His)	RALGAPA2 (P1545H)	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 3151278	NM_020343.4(RALGAPA2):c.4550A>G (p.Asp1517Gly)	RALGAPA2 (D1517G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316109	NM_020343.4(RALGAPA2):c.4414T>A (p.Trp1472Arg)	RALGAPA2 (W1472R)	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 3312598	NM_020343.4(RALGAPA2):c.4388T>C (p.Val1463Ala)	RALGAPA2 (V1463A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253254	NM_020343.4(RALGAPA2):c.4372G>A (p.Asp1458Asn)	RALGAPA2 (D1458N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652233	NM_020343.4(RALGAPA2):c.4365T>G (p.Ser1455=)	RALGAPA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2214202	NM_020343.4(RALGAPA2):c.4304C>A (p.Thr1435Asn)	RALGAPA2 (T1435N)	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 2261882	NM_020343.4(RALGAPA2):c.4241C>T (p.Ser1414Phe)	RALGAPA2 (S1414F)	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 2324276	NM_020343.4(RALGAPA2):c.4112T>C (p.Ile1371Thr)	RALGAPA2 (I1371T)	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 2249411	NM_020343.4(RALGAPA2):c.3983C>T (p.Thr1328Met)	RALGAPA2 (T1328M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264272	NM_020343.4(RALGAPA2):c.3935A>G (p.Tyr1312Cys)	RALGAPA2 (Y1312C)	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 2409700	NM_020343.4(RALGAPA2):c.3835G>A (p.Val1279Met)	RALGAPA2 (V1279M)	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
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 872200	NM_020343.4(RALGAPA2):c.3762+2T>C	RALGAPA2	Single nucleotide variant (splice donor variant)	not provided	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 3151271	NM_020343.4(RALGAPA2):c.3694A>G (p.Ile1232Val)	RALGAPA2 (I1232V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231920	NM_020343.4(RALGAPA2):c.3679C>T (p.Arg1227Trp)	RALGAPA2 (R1227W)	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 3151270	NM_020343.4(RALGAPA2):c.3470C>A (p.Ala1157Glu)	RALGAPA2 (A1157E)	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 2652234	NM_020343.4(RALGAPA2):c.3336A>G (p.Pro1112=)	RALGAPA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2370672	NM_020343.4(RALGAPA2):c.3261G>T (p.Arg1087Ser)	RALGAPA2 (R1087S)	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 2609504	NM_020343.4(RALGAPA2):c.3205C>G (p.Leu1069Val)	RALGAPA2 (L1069V)	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 3312601	NM_020343.4(RALGAPA2):c.3170C>T (p.Thr1057Met)	RALGAPA2 (T1057M)	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 2392026	NM_020343.4(RALGAPA2):c.3113A>T (p.His1038Leu)	RALGAPA2 (H1038L)	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 2293667	NM_020343.4(RALGAPA2):c.3021A>T (p.Glu1007Asp)	RALGAPA2 (E1007D)	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 3312604	NM_020343.4(RALGAPA2):c.2930A>C (p.Asp977Ala)	RALGAPA2 (D977A)	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 3151267	NM_020343.4(RALGAPA2):c.2905C>T (p.Arg969Trp)	RALGAPA2 (R969W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357479	NM_020343.4(RALGAPA2):c.2866T>C (p.Cys956Arg)	RALGAPA2 (C956R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252587	NM_020343.4(RALGAPA2):c.2858G>A (p.Arg953Lys)	RALGAPA2 (R953K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2622887	NM_020343.4(RALGAPA2):c.2794T>C (p.Trp932Arg)	RALGAPA2 (W932R)	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 2210945	NM_020343.4(RALGAPA2):c.2662C>T (p.Arg888Cys)	RALGAPA2 (R888C)	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 2470225	NM_020343.4(RALGAPA2):c.2629A>G (p.Thr877Ala)	RALGAPA2 (T877A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241566	NM_020343.4(RALGAPA2):c.2627A>G (p.Asn876Ser)	RALGAPA2 (N876S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2568857	NM_020343.4(RALGAPA2):c.2540C>A (p.Thr847Asn)	RALGAPA2 (T847N)	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 2411807	NM_020343.4(RALGAPA2):c.2305G>T (p.Asp769Tyr)	RALGAPA2 (D769Y)	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 2509493	NM_020343.4(RALGAPA2):c.2288G>A (p.Arg763Gln)	RALGAPA2 (R763Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3312609	NM_020343.4(RALGAPA2):c.2227G>A (p.Glu743Lys)	RALGAPA2 (E743K)	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 2472701	NM_020343.4(RALGAPA2):c.2072T>G (p.Val691Gly)	RALGAPA2 (V691G)	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

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