ClinVar for Gene (Select 5858) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3150288	NM_002864.3(PZP):c.737A>G (p.Asn246Ser)	KLRG1, PZP (N246S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150286	NM_002864.3(PZP):c.722T>C (p.Met241Thr)	KLRG1, PZP (M241T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150285	NM_002864.3(PZP):c.658G>A (p.Val220Met)	KLRG1, PZP (V220M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150284	NM_002864.3(PZP):c.621G>C (p.Gln207His)	KLRG1, PZP (Q207H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150283	NM_002864.3(PZP):c.4170G>T (p.Lys1390Asn)	KLRG1, PZP (K1390N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150282	NM_002864.3(PZP):c.4097G>A (p.Ser1366Asn)	KLRG1, PZP (S1366N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150280	NM_002864.3(PZP):c.3881C>T (p.Thr1294Ile)	KLRG1, PZP (T1294I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150279	NM_002864.3(PZP):c.3559G>A (p.Val1187Ile)	KLRG1, PZP (V1187I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3150277	NM_002864.3(PZP):c.3196G>A (p.Glu1066Lys)	KLRG1, PZP (E1066K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150276	NM_002864.3(PZP):c.2903T>C (p.Ile968Thr)	KLRG1, PZP (I968T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150275	NM_002864.3(PZP):c.2902A>G (p.Ile968Val)	KLRG1, PZP (I968V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150274	NM_002864.3(PZP):c.2738C>T (p.Ala913Val)	KLRG1, PZP (A913V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150273	NM_002864.3(PZP):c.2320G>A (p.Gly774Arg)	KLRG1, PZP (G774R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150272	NM_002864.3(PZP):c.2249T>C (p.Val750Ala)	KLRG1, PZP (V750A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150271	NM_002864.3(PZP):c.212G>A (p.Ser71Asn)	KLRG1, PZP (S71N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150270	NM_002864.3(PZP):c.2060T>A (p.Val687Asp)	KLRG1, PZP (V687D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150269	NM_002864.3(PZP):c.1820C>T (p.Ala607Val)	KLRG1, PZP (A607V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150268	NM_002864.3(PZP):c.1750G>A (p.Ala584Thr)	KLRG1, PZP (A584T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3150267	NM_002864.3(PZP):c.1492A>C (p.Lys498Gln)	KLRG1, PZP (K498Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150266	NM_002864.3(PZP):c.1311C>A (p.His437Gln)	KLRG1, PZP (H437Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150265	NM_002864.3(PZP):c.128C>T (p.Pro43Leu)	KLRG1, PZP (P43L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150264	NM_002864.3(PZP):c.1216A>G (p.Asn406Asp)	KLRG1, PZP (N406D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3150263	NM_002864.3(PZP):c.1201G>C (p.Ala401Pro)	KLRG1, PZP (A401P)	Single nucleotide variant (missense variant)	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 2684667	GRCh37/hg19 12p13.31(chr12:9286190-9593714)x3	PZP	Copy number gain	not provided	GUncertain significance
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2642695	NM_002864.3(PZP):c.234G>A (p.Ala78=)	KLRG1, PZP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642694	NM_002864.3(PZP):c.342G>A (p.Arg114=)	KLRG1, PZP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642693	NM_002864.3(PZP):c.1503C>T (p.Ile501=)	KLRG1, PZP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642692	NM_002864.3(PZP):c.3435C>T (p.Thr1145=)	KLRG1, PZP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2619749	NM_002864.3(PZP):c.2602C>A (p.Pro868Thr)	KLRG1, PZP (P868T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610904	NM_002864.3(PZP):c.4249A>T (p.Ser1417Cys)	KLRG1, PZP (S1417C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610594	NM_002864.3(PZP):c.3646T>A (p.Ser1216Thr)	KLRG1, PZP (S1216T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605484	NM_002864.3(PZP):c.4301G>A (p.Ser1434Asn)	KLRG1, PZP (S1434N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595488	NM_002864.3(PZP):c.2429G>A (p.Arg810His)	KLRG1, PZP (R810H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568316	NM_002864.3(PZP):c.1871C>T (p.Thr624Ile)	KLRG1, PZP (T624I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2565704	NM_002864.3(PZP):c.1337G>A (p.Arg446His)	KLRG1, PZP (R446H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2560451	NM_002864.3(PZP):c.3517C>A (p.Leu1173Met)	KLRG1, PZP (L1173M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553050	NM_002864.3(PZP):c.2195C>T (p.Pro732Leu)	KLRG1, PZP (P732L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541447	NM_002864.3(PZP):c.1307A>G (p.Asp436Gly)	KLRG1, PZP (D436G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540438	NM_002864.3(PZP):c.2983T>A (p.Tyr995Asn)	KLRG1, PZP (Y995N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532973	NM_002864.3(PZP):c.70A>G (p.Asn24Asp)	KLRG1, PZP (N24D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2529826	NM_002864.3(PZP):c.3329A>G (p.Tyr1110Cys)	KLRG1, PZP (Y1110C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517424	NM_002864.3(PZP):c.1474C>T (p.His492Tyr)	KLRG1, PZP (H492Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2508644	NM_002864.3(PZP):c.2218T>G (p.Tyr740Asp)	KLRG1, PZP (Y740D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488278	NM_002864.3(PZP):c.1753G>C (p.Ala585Pro)	KLRG1, PZP (A585P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485953	NM_002864.3(PZP):c.2528C>T (p.Ser843Phe)	KLRG1, PZP (S843F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482020	NM_002864.3(PZP):c.1469G>T (p.Ser490Ile)	KLRG1, PZP (S490I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478090	NM_002864.3(PZP):c.2637T>A (p.Ser879Arg)	KLRG1, PZP (S879R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472723	NM_002864.3(PZP):c.3599G>C (p.Gly1200Ala)	KLRG1, PZP (G1200A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459167	NM_002864.3(PZP):c.3734T>C (p.Met1245Thr)	KLRG1, PZP (M1245T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	AKAP3, ETFRF1 +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2409106	NM_002864.3(PZP):c.3383G>A (p.Arg1128His)	KLRG1, PZP (R1128H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375344	NM_002864.3(PZP):c.1534G>C (p.Glu512Gln)	KLRG1, PZP (E512Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372561	NM_002864.3(PZP):c.437G>A (p.Arg146His)	KLRG1, PZP (R146H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358643	NM_002864.3(PZP):c.2333T>C (p.Leu778Pro)	KLRG1, PZP (L778P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326619	NM_002864.3(PZP):c.2083G>C (p.Ala695Pro)	KLRG1, PZP (A695P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322811	NM_002864.3(PZP):c.1768C>A (p.Leu590Ile)	KLRG1, PZP (L590I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320335	NM_002864.3(PZP):c.2493T>G (p.Ser831Arg)	KLRG1, PZP (S831R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314469	NM_002864.3(PZP):c.1196G>T (p.Gly399Val)	KLRG1, PZP (G399V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301804	NM_002864.3(PZP):c.724G>C (p.Asp242His)	KLRG1, PZP (D242H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293130	NM_002864.3(PZP):c.937G>C (p.Glu313Gln)	KLRG1, PZP (E313Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293129	NM_002864.3(PZP):c.903C>G (p.His301Gln)	KLRG1, PZP (H301Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289539	NM_002864.3(PZP):c.485C>A (p.Pro162Gln)	KLRG1, PZP (P162Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275494	NM_002864.3(PZP):c.2308G>A (p.Glu770Lys)	KLRG1, PZP (E770K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271145	NM_002864.3(PZP):c.1077C>G (p.Ile359Met)	KLRG1, PZP (I359M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240948	NM_002864.3(PZP):c.859A>T (p.Ser287Cys)	KLRG1, PZP (S287C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221623	NM_002864.3(PZP):c.1562C>T (p.Ala521Val)	KLRG1, PZP (A521V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209156	NM_002864.3(PZP):c.3915A>C (p.Leu1305Phe)	KLRG1, PZP (L1305F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206198	NM_002864.3(PZP):c.3254G>A (p.Cys1085Tyr)	KLRG1, PZP (C1085Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809413	GRCh37/hg19 12p13.31(chr12:9358484-9613948)x3	PZP	Copy number gain	not provided	GUncertain significance
Select item 1807971	GRCh37/hg19 12p13.31(chr12:8781515-9605163)x4	A2M, A2ML1 +6 more	Copy number gain	not provided	GUncertain significance
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 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 790412	NM_002864.3(PZP):c.2038C>T (p.Arg680Ter)	KLRG1, PZP (R680*)	Single nucleotide variant (nonsense)	not provided	GBenign
Select item 787921	NM_002864.3(PZP):c.765T>C (p.Tyr255=)	KLRG1, PZP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 787920	NM_002864.3(PZP):c.1361A>C (p.Tyr454Ser)	KLRG1, PZP (Y454S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 779517	NM_002864.3(PZP):c.3285T>C (p.Asn1095=)	KLRG1, PZP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778583	NM_002864.3(PZP):c.1665G>A (p.Glu555=)	KLRG1, PZP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769813	NM_002864.3(PZP):c.2337C>T (p.Ser779=)	KLRG1, PZP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 755661	NM_002864.3(PZP):c.4342T>C (p.Leu1448=)	KLRG1, PZP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 715780	NM_002864.3(PZP):c.867+10C>T	KLRG1, PZP	Single nucleotide variant (intron variant)	not provided	GBenign
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 625809	GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)	A2M, A2ML1 +193 more	Copy number gain	not provided	GPathogenic
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 563939	GRCh37/hg19 12p13.31(chr12:9032204-9420829)x3	A2M, KLRG1 +3 more	Copy number gain	not provided	GUncertain significance
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 442927	GRCh37/hg19 12p13.31(chr12:9294070-9569172)x1	PZP	Copy number loss	See cases	GUncertain significance
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)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 441823	GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3	A2M, A2ML1 +166 more	Copy number gain	See cases	GPathogenic
Select item 424731	NM_002864.2(PZP):c.[1504G>A];[3325G>A]			Long QT syndrome	GLikely benign
Select item 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic

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