9750[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
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 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 more	Copy number gain	See cases	GPathogenic
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 2605484	NM_002864.3(PZP):c.4301G>A (p.Ser1434Asn)	KLRG1, PZP (S1434N)	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 3311918	NM_002864.3(PZP):c.4178C>A (p.Ser1393Tyr)	KLRG1, PZP (S1393Y)	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 2209156	NM_002864.3(PZP):c.3915A>C (p.Leu1305Phe)	KLRG1, PZP (L1305F)	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 2459167	NM_002864.3(PZP):c.3734T>C (p.Met1245Thr)	KLRG1, PZP (M1245T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2472723	NM_002864.3(PZP):c.3599G>C (p.Gly1200Ala)	KLRG1, PZP (G1200A)	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 2560451	NM_002864.3(PZP):c.3517C>A (p.Leu1173Met)	KLRG1, PZP (L1173M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311916	NM_002864.3(PZP):c.3476C>T (p.Ala1159Val)	KLRG1, PZP (A1159V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311915	NM_002864.3(PZP):c.3465G>T (p.Leu1155Phe)	KLRG1, PZP (L1155F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2409106	NM_002864.3(PZP):c.3383G>A (p.Arg1128His)	KLRG1, PZP (R1128H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 242568	NM_002864.2:c.3325G>A	KLRG1, PZP (A1109T)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 779517	NM_002864.3(PZP):c.3285T>C (p.Asn1095=)	KLRG1, PZP	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3150277	NM_002864.3(PZP):c.3196G>A (p.Glu1066Lys)	KLRG1, PZP (E1066K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311912	NM_002864.3(PZP):c.3167C>T (p.Ala1056Val)	KLRG1, PZP (A1056V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311917	NM_002864.3(PZP):c.3164T>A (p.Phe1055Tyr)	KLRG1, PZP (F1055Y)	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 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 2478090	NM_002864.3(PZP):c.2637T>A (p.Ser879Arg)	KLRG1, PZP (S879R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2485953	NM_002864.3(PZP):c.2528C>T (p.Ser843Phe)	KLRG1, PZP (S843F)	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 2595488	NM_002864.3(PZP):c.2429G>A (p.Arg810His)	PZP, KLRG1 (R810H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769813	NM_002864.3(PZP):c.2337C>T (p.Ser779=)	KLRG1, PZP	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3150273	NM_002864.3(PZP):c.2320G>A (p.Gly774Arg)	KLRG1, PZP (G774R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275494	NM_002864.3(PZP):c.2308G>A (p.Glu770Lys)	PZP, KLRG1 (E770K)	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 2508644	NM_002864.3(PZP):c.2218T>G (p.Tyr740Asp)	KLRG1, PZP (Y740D)	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 2326619	NM_002864.3(PZP):c.2083G>C (p.Ala695Pro)	KLRG1, PZP (A695P)	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 790412	NM_002864.3(PZP):c.2038C>T (p.Arg680Ter)	KLRG1, PZP (R680*)	Single nucleotide variant (nonsense)	not provided	GBenign
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 3150269	NM_002864.3(PZP):c.1820C>T (p.Ala607Val)	KLRG1, PZP (A607V)	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 2488278	NM_002864.3(PZP):c.1753G>C (p.Ala585Pro)	KLRG1, PZP (A585P)	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 778583	NM_002864.3(PZP):c.1665G>A (p.Glu555=)	KLRG1, PZP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3311913	NM_002864.3(PZP):c.1608G>A (p.Met536Ile)	KLRG1, PZP (M536I)	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 2375344	NM_002864.3(PZP):c.1534G>C (p.Glu512Gln)	KLRG1, PZP (E512Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 242567	NM_002864.2:c.1504G>A	KLRG1, PZP (V502I)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
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 3150267	NM_002864.3(PZP):c.1492A>C (p.Lys498Gln)	KLRG1, PZP (K498Q)	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 2482020	NM_002864.3(PZP):c.1469G>T (p.Ser490Ile)	KLRG1, PZP (S490I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2565704	NM_002864.3(PZP):c.1337G>A (p.Arg446His)	KLRG1, PZP (R446H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2541447	NM_002864.3(PZP):c.1307A>G (p.Asp436Gly)	KLRG1, PZP (D436G)	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 2314469	NM_002864.3(PZP):c.1196G>T (p.Gly399Val)	KLRG1, PZP (G399V)	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 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 3311909	NM_002864.3(PZP):c.886A>G (p.Ile296Val)	KLRG1, PZP (I296V)	Single nucleotide variant (missense variant)	not specified	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 2240948	NM_002864.3(PZP):c.859A>T (p.Ser287Cys)	KLRG1, PZP (S287C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311908	NM_002864.3(PZP):c.771G>T (p.Lys257Asn)	KLRG1, PZP (K257N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787921	NM_002864.3(PZP):c.765T>C (p.Tyr255=)	KLRG1, PZP	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2301804	NM_002864.3(PZP):c.724G>C (p.Asp242His)	KLRG1, PZP (D242H)	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 2289539	NM_002864.3(PZP):c.485C>A (p.Pro162Gln)	KLRG1, PZP (P162Q)	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 2642694	NM_002864.3(PZP):c.342G>A (p.Arg114=)	KLRG1, PZP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3311911	NM_002864.3(PZP):c.223G>C (p.Asp75His)	KLRG1, PZP (D75H)	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 3150265	NM_002864.3(PZP):c.128C>T (p.Pro43Leu)	KLRG1, PZP (P43L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311910	NM_002864.3(PZP):c.86A>C (p.Gln29Pro)	KLRG1, PZP (Q29P)	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 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 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic

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