ClinVar for Gene (Select 9332) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3264727	NM_203416.4(CD163):c.2354A>G (p.Glu785Gly)	CD163 (E785G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264726	NM_203416.4(CD163):c.2789G>T (p.Arg930Ile)	CD163 (R930I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264725	NM_203416.4(CD163):c.1660C>T (p.Leu554Phe)	CD163 (L554F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264724	NM_203416.4(CD163):c.1418C>T (p.Ser473Leu)	CD163 (S473L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264723	NM_203416.4(CD163):c.2465T>C (p.Met822Thr)	CD163 (M822T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264721	NM_203416.4(CD163):c.2369G>A (p.Gly790Glu)	CD163 (G790E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264720	NM_203416.4(CD163):c.2404G>A (p.Gly802Ser)	CD163 (G802S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3244256	NC_000012.11:g.(?_7053285)_(9027607_?)del	A2ML1, ACSM4 +35 more	Deletion	Peroxisome biogenesis disorder 2B +1 more	GPathogenic
Select item 3140311	NM_203416.4(CD163):c.612T>G (p.Ser204Arg)	CD163 (S204R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140310	NM_203416.4(CD163):c.433C>A (p.Gln145Lys)	CD163 (Q145K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140309	NM_203416.4(CD163):c.362G>A (p.Arg121His)	CD163 (R121H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140308	NM_203416.4(CD163):c.335G>A (p.Arg112His)	CD163 (R112H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140307	NM_203416.4(CD163):c.3207C>A (p.Phe1069Leu)	CD163 (F1069L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3140306	NM_203416.4(CD163):c.3178G>A (p.Val1060Ile)	CD163 (V1060I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3140305	NM_203416.4(CD163):c.311C>G (p.Ala104Gly)	CD163 (A104G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140304	NM_203416.4(CD163):c.2995A>C (p.Lys999Gln)	CD163 (K999Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140303	NM_203416.4(CD163):c.2981A>G (p.Asn994Ser)	CD163 (N994S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140302	NM_203416.4(CD163):c.244A>G (p.Met82Val)	CD163 (M82V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140301	NM_203416.4(CD163):c.215G>C (p.Trp72Ser)	CD163 (W72S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140300	NM_203416.4(CD163):c.1951C>T (p.His651Tyr)	CD163 (H651Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140299	NM_203416.4(CD163):c.1910G>A (p.Arg637His)	CD163 (R637H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3140298	NM_203416.4(CD163):c.1609A>G (p.Asn537Asp)	CD163 (N537D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140296	NM_203416.4(CD163):c.1156G>A (p.Val386Ile)	CD163 (V386I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2617594	NM_203416.4(CD163):c.352G>A (p.Val118Ile)	CD163 (V118I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604645	NM_203416.4(CD163):c.1878T>G (p.Cys626Trp)	CD163 (C626W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2561867	NM_203416.4(CD163):c.1540G>A (p.Val514Ile)	CD163 (V514I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545029	NM_203416.4(CD163):c.806T>A (p.Val269Glu)	CD163 (V269E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542654	NM_203416.4(CD163):c.2267T>C (p.Val756Ala)	CD163 (V756A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532234	NM_203416.4(CD163):c.3121A>C (p.Thr1041Pro)	CD163 (T1041P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530839	NM_203416.4(CD163):c.3157G>A (p.Ala1053Thr)	CD163 (A1053T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524967	NM_203416.4(CD163):c.1704C>A (p.Ser568Arg)	CD163 (S568R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472878	NM_203416.4(CD163):c.2699A>C (p.Asp900Ala)	CD163 (D900A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465381	NM_203416.4(CD163):c.1928G>T (p.Gly643Val)	CD163 (G643V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2431137	NM_203416.4(CD163):c.3344-144C>G	CD163	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431126	NM_203416.4(CD163):c.1100-317C>A	CD163	Single nucleotide variant (intron variant)	Squamous cell carcinoma	GUncertain significance
Select item 2431073	NM_203416.4(CD163):c.45T>A (p.Ala15=)	CD163	Single nucleotide variant (synonymous variant +1 more)	Lung adenocarcinoma	GUncertain significance
Select item 2423987	NC_000012.11:g.(?_4368352)_(9027607_?)dup	A2ML1, ACRBP +85 more	Duplication	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2410985	NM_203416.4(CD163):c.2753C>T (p.Ser918Leu)	CD163 (S918L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378513	NM_203416.4(CD163):c.386A>G (p.Asp129Gly)	CD163 (D129G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371765	NM_203416.4(CD163):c.125G>C (p.Ser42Thr)	CD163 (S42T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371122	NM_203416.4(CD163):c.1772C>T (p.Pro591Leu)	CD163 (P591L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364397	NM_203416.4(CD163):c.2240G>C (p.Ser747Thr)	CD163 (S747T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361333	NM_203416.4(CD163):c.3140G>A (p.Arg1047His)	CD163 (R1047H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360611	NM_203416.4(CD163):c.1751G>A (p.Arg584His)	CD163 (R584H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330754	NM_203416.4(CD163):c.809A>T (p.Asp270Val)	CD163 (D270V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328448	NM_203416.4(CD163):c.377C>A (p.Ala126Asp)	CD163 (A126D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309454	NM_203416.4(CD163):c.3134C>T (p.Ser1045Leu)	CD163 (S1045L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306492	NM_203416.4(CD163):c.1142G>A (p.Arg381His)	CD163 (R381H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306447	NM_203416.4(CD163):c.1543C>G (p.Leu515Val)	CD163 (L515V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298875	NM_203416.4(CD163):c.621T>A (p.Ser207Arg)	CD163 (S207R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295804	NM_203416.4(CD163):c.2569G>A (p.Glu857Lys)	CD163 (E857K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287103	NM_203416.4(CD163):c.907G>A (p.Ala303Thr)	CD163 (A303T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273275	NM_203416.4(CD163):c.1888C>T (p.Leu630Phe)	CD163 (L630F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247432	NM_203416.4(CD163):c.1471G>A (p.Val491Ile)	CD163 (V491I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245464	NM_203416.4(CD163):c.1996G>A (p.Ala666Thr)	CD163 (A666T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241391	NM_203416.4(CD163):c.54A>C (p.Arg18Ser)	CD163 (R18S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240491	NM_203416.4(CD163):c.2380C>G (p.Arg794Gly)	CD163 (R794G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214601	NM_203416.4(CD163):c.2140A>C (p.Ile714Leu)	CD163 (I714L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209495	NM_203416.4(CD163):c.2302G>T (p.Ala768Ser)	CD163 (A768S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1807708	GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 1473612	NC_000012.11:g.(?_6438478)_(8756953_?)dup	ACRBP, ACSM4 +64 more	Duplication	not provided	GUncertain significance
Select item 1409561	NC_000012.11:g.(?_6438478)_(8248686_?)dup	COPS7A, DPPA3 +57 more	Duplication	Temtamy syndrome	GUncertain significance
Select item 1373618	NC_000012.11:g.(?_6978008)_(9010204_?)dup	C12orf57, ATN1 +40 more	Duplication	Peroxisome biogenesis disorder 2B	GUncertain significance
Select item 1330180	GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3	CLEC4A, LRRC23 +106 more	Copy number gain	Single transverse palmar crease +6 more	GPathogenic
Select item 1321327	NM_203416.4(CD163):c.3223C>T (p.Arg1075Ter)	CD163 (R1075*)	Single nucleotide variant (nonsense +1 more)	Multisystem inflammatory syndrome in children	Grisk factor
Select item 1253566	NM_203416.4(CD163):c.1024A>G (p.Ile342Val)	CD163 (I342V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1180524	GRCh37/hg19 12p13.33-13.31(chr12:189145-7730395)x3	CRACR2A, ERC1 +93 more	Copy number gain	not provided	GPathogenic
Select item 1004385	NC_000012.11:g.(?_6945914)_(9027627_?)dup	C1RL, C1S +44 more	Duplication	Klippel-Feil syndrome 3, autosomal dominant	GUncertain significance
Select item 830465	NC_000012.11:g.(?_6945914)_(8248706_?)dup	ACSM4, APOBEC1 +34 more	Duplication	Temtamy syndrome	GUncertain significance
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 785393	NM_203416.4(CD163):c.1709G>A (p.Ser570Asn)	CD163 (S570N)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 785392	NM_203416.4(CD163):c.3344-24C>A	CD163 (L1103I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 784232	NM_203416.4(CD163):c.3024T>C (p.Cys1008=)	CD163	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 779946	NM_203416.4(CD163):c.2676T>C (p.Asn892=)	CD163	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 779388	NM_203416.4(CD163):c.222G>A (p.Thr74=)	CD163	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 776692	NM_203416.4(CD163):c.1926T>A (p.Asn642Lys)	CD163 (N642K)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 776691	NM_203416.4(CD163):c.2599C>T (p.Leu867=)	CD163	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 775305	NM_203416.4(CD163):c.457+9T>A	CD163	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 750324	NM_203416.4(CD163):c.1686C>G (p.Arg562=)	CD163	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 728962	NM_203416.4(CD163):c.2763C>T (p.Thr921=)	CD163	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 711920	NM_203416.4(CD163):c.3344-56G>A	CD163 (S1124N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 685635	GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3	ACRBP, ACSM4 +107 more	Copy number gain	not provided	GPathogenic
Select item 625811	GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497)	ACRBP, ACSM4 +102 more	Copy number gain	not provided	GPathogenic
Select item 625810	GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292)	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 625809	GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)	A2M, A2ML1 +193 more	Copy number gain	not provided	GPathogenic
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	GAPDH, GAU1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563988	GRCh37/hg19 12p13.33-13.31(chr12:191242-8122785)x3	ACRBP, ACSM4 +101 more	Copy number gain	not provided	GPathogenic
Select item 443532	GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	A2M, A2ML1 +256 more	Copy number gain	See cases	GPathogenic
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	KCNA6, KCNJ8 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic

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