8312[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59410	GRCh38/hg38 16p13.3(chr16:23141-1712523)x1	ANTKMT, ARHGDIG +194 more	Copy number loss	See cases	GPathogenic
Select item 59409	GRCh38/hg38 16p13.3(chr16:23141-1773349)x1	ANTKMT, ARHGDIG +210 more	Copy number loss	See cases	GPathogenic
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 155642	GRCh38/hg38 16p13.3(chr16:35880-605262)x1	ARHGDIG, AXIN1 +59 more	Copy number loss	See cases	GUncertain significance
Select item 152889	GRCh38/hg38 16p13.3(chr16:43722-308914)x3	ARHGDIG, AXIN1 +26 more	Copy number gain	See cases	GUncertain significance
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 148760	GRCh38/hg38 16p13.3(chr16:46722-1867327)x1	ANTKMT, ARHGDIG +224 more	Copy number loss	See cases	GPathogenic
Select item 148917	GRCh38/hg38 16p13.3(chr16:46766-882211)x1	NHLRC4, NME4 +119 more	Copy number loss	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 145576	GRCh38/hg38 16p13.3(chr16:46766-1544014)x1	ANTKMT, ARHGDIG +179 more	Copy number loss	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 59411	GRCh38/hg38 16p13.3(chr16:46766-1997582)x1	ANTKMT, ARHGDIG +253 more	Copy number loss	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 152879	GRCh38/hg38 16p13.3(chr16:59980-1221651)x1	ANTKMT, ARHGDIG +130 more	Copy number loss	See cases	GPathogenic
Select item 59425	GRCh38/hg38 16p13.3(chr16:105429-1499893)x1	ANTKMT, ARHGDIG +164 more	Copy number loss	See cases	GPathogenic
Select item 58598	GRCh38/hg38 16p13.3(chr16:239680-589745)x3	ARHGDIG, AXIN1 +34 more	Copy number gain	See cases	GPathogenic
Select item 3352842	NM_003502.4(AXIN1):c.*37C>A	AXIN1	Single nucleotide variant (3 prime UTR variant +1 more)	AXIN1-related disorder	GBenign
Select item 3357664	NM_003502.4(AXIN1):c.*8G>A	AXIN1	Single nucleotide variant (3 prime UTR variant +1 more)	AXIN1-related disorder	GBenign
Select item 749307	NM_003502.4(AXIN1):c.2583G>A (p.Val861=)	AXIN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 721381	NM_003502.4(AXIN1):c.2565C>T (p.Ile855=)	AXIN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2242866	NM_003502.4(AXIN1):c.2560A>C (p.Ile854Leu)	AXIN1 (I854L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132481	NM_003502.4(AXIN1):c.2537T>C (p.Val846Ala)	AXIN1 (V810A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374936	NM_003502.4(AXIN1):c.2530G>A (p.Glu844Lys)	AXIN1 (E844K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132480	NM_003502.4(AXIN1):c.2529C>G (p.Asp843Glu)	AXIN1 (D807E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 774502	NM_003502.4(AXIN1):c.2522G>A (p.Arg841Gln)	AXIN1 (R805Q +1 more)	Single nucleotide variant (missense variant +1 more)	Caudal duplication +2 more	GBenign/Likely benign
Select item 2627027	NM_003502.4(AXIN1):c.2521C>T (p.Arg841Ter)	AXIN1 (R841*)	Single nucleotide variant (nonsense +1 more)	Craniometadiaphyseal osteosclerosis with hip dysplasia	GPathogenic
Select item 2627025	NM_003502.4(AXIN1):c.2503dup (p.Val835fs)	AXIN1 (V799fs +1 more)	Duplication (frameshift variant +1 more)	Craniometadiaphyseal osteosclerosis with hip dysplasia	GPathogenic
Select item 3132479	NM_003502.4(AXIN1):c.2485G>T (p.Asp829Tyr)	AXIN1 (D829Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3058269	NM_003502.4(AXIN1):c.2484C>T (p.Ser828=)	AXIN1	Single nucleotide variant (synonymous variant +1 more)	AXIN1-related disorder	GLikely benign
Select item 2476692	NM_003502.4(AXIN1):c.2479G>A (p.Val827Met)	AXIN1 (V827M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3039223	NM_003502.4(AXIN1):c.2463-9G>A	AXIN1	Single nucleotide variant (intron variant)	AXIN1-related disorder	GLikely benign
Select item 2603374	NM_003502.4(AXIN1):c.2457C>G (p.Ser819Arg)	AXIN1 (S819R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 787969	NM_003502.4(AXIN1):c.2409C>T (p.Arg803=)	AXIN1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 771011	NM_003502.4(AXIN1):c.2403G>A (p.Arg801=)	AXIN1	Single nucleotide variant (synonymous variant +1 more)	Hepatocellular carcinoma +2 more	GBenign/Likely benign
Select item 2312943	NM_003502.4(AXIN1):c.2395C>G (p.Leu799Val)	AXIN1 (L799V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2443081	NM_003502.4(AXIN1):c.2370C>T (p.Cys790=)	AXIN1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3132478	NM_003502.4(AXIN1):c.2351T>C (p.Val784Ala)	AXIN1 (V748A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3056732	NM_003502.4(AXIN1):c.2294+8C>T	AXIN1	Single nucleotide variant (intron variant)	AXIN1-related disorder	GBenign
Select item 3334273	NM_003502.4(AXIN1):c.2287G>A (p.Glu763Lys)	AXIN1 (E763K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291052	NM_003502.4(AXIN1):c.2266G>A (p.Val756Met)	AXIN1 (V756M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2681475	NM_003502.4(AXIN1):c.2226C>G (p.Val742=)	AXIN1	Single nucleotide variant (synonymous variant +1 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 752291	NM_003502.4(AXIN1):c.2223C>T (p.Cys741=)	AXIN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 734785	NM_003502.4(AXIN1):c.2186+8C>T	AXIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 446041	NM_003502.4(AXIN1):c.2186+7C>T	AXIN1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1206002	NM_003502.4(AXIN1):c.2186+4C>T	AXIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2538841	NM_003502.4(AXIN1):c.2168G>A (p.Arg723Gln)	AXIN1 (R723Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2627026	NM_003502.4(AXIN1):c.2167C>T (p.Arg723Ter)	AXIN1 (R723*)	Single nucleotide variant (nonsense +1 more)	Hepatocellular carcinoma	GUncertain significance
Select item 3058336	NM_003502.4(AXIN1):c.2130G>A (p.Ala710=)	AXIN1	Single nucleotide variant (synonymous variant +1 more)	AXIN1-related disorder	GLikely benign
Select item 3334294	NM_003502.4(AXIN1):c.2008C>T (p.Leu670Phe)	AXIN1 (L670F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 780011	NM_003502.4(AXIN1):c.1983C>T (p.Pro661=)	AXIN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2598125	NM_003502.4(AXIN1):c.1967C>T (p.Thr656Met)	AXIN1 (T656M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2645784	NM_003502.4(AXIN1):c.1948G>A (p.Gly650Ser)	AXIN1 (G650S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3132477	NM_003502.4(AXIN1):c.1892A>T (p.Lys631Ile)	AXIN1 (K631I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3048903	NM_003502.4(AXIN1):c.1842C>T (p.Ser614=)	AXIN1	Single nucleotide variant (synonymous variant +1 more)	AXIN1-related disorder	GLikely benign
Select item 2464046	NM_003502.4(AXIN1):c.1813A>G (p.Asn605Asp)	AXIN1 (N605D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132476	NM_003502.4(AXIN1):c.1735T>C (p.Ser579Pro)	AXIN1 (S579P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334305	NM_003502.4(AXIN1):c.1718C>G (p.Ala573Gly)	AXIN1 (A573G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 776950	NM_003502.4(AXIN1):c.1677G>A (p.Gln559=)	AXIN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2387735	NM_003502.4(AXIN1):c.1672G>A (p.Ala558Thr)	AXIN1 (A558T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 712176	NM_003502.4(AXIN1):c.1656C>T (p.Ala552=)	AXIN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3053183	NM_003502.4(AXIN1):c.1614C>T (p.His538=)	AXIN1	Single nucleotide variant (synonymous variant +1 more)	AXIN1-related disorder	GLikely benign
Select item 3044771	NM_003502.4(AXIN1):c.1602C>T (p.His534=)	AXIN1	Single nucleotide variant (synonymous variant +1 more)	AXIN1-related disorder	GLikely benign
Select item 768731	NM_003502.4(AXIN1):c.1578G>A (p.Ala526=)	AXIN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 790157	NM_003502.4(AXIN1):c.1577C>T (p.Ala526Val)	AXIN1 (A526V)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 3033815	NM_003502.4(AXIN1):c.1575C>T (p.Asp525=)	AXIN1	Single nucleotide variant (synonymous variant +1 more)	AXIN1-related disorder	GBenign
Select item 2645785	NM_003502.4(AXIN1):c.1549G>A (p.Val517Ile)	AXIN1 (V517I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 768732	NM_003502.4(AXIN1):c.1533G>A (p.Ser511=)	AXIN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 715635	NM_003502.4(AXIN1):c.1485C>G (p.Asp495Glu)	AXIN1 (D495E)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 3132475	NM_003502.4(AXIN1):c.1451G>A (p.Arg484His)	AXIN1 (R484H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364376	NM_003502.4(AXIN1):c.1430G>A (p.Arg477His)	AXIN1 (R477H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132474	NM_003502.4(AXIN1):c.1379G>A (p.Arg460Gln)	AXIN1 (R460Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374254	NM_003502.4(AXIN1):c.1360A>G (p.Met454Val)	AXIN1 (M454V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3132473	NM_003502.4(AXIN1):c.1352G>A (p.Cys451Tyr)	AXIN1 (C451Y)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3334263	NM_003502.4(AXIN1):c.1348C>T (p.Arg450Cys)	AXIN1 (R450C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3049424	NM_003502.4(AXIN1):c.1314G>T (p.Leu438=)	AXIN1	Single nucleotide variant (synonymous variant +1 more)	AXIN1-related disorder	GLikely benign
Select item 2319657	NM_003502.4(AXIN1):c.1301C>T (p.Pro434Leu)	AXIN1 (P434L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334335	NM_003502.4(AXIN1):c.1276G>A (p.Asp426Asn)	AXIN1 (D426N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3053344	NM_003502.4(AXIN1):c.1275C>T (p.Gly425=)	AXIN1	Single nucleotide variant (synonymous variant +1 more)	AXIN1-related disorder	GLikely benign
Select item 3055366	NM_003502.4(AXIN1):c.1273G>A (p.Gly425Ser)	AXIN1 (G425S)	Single nucleotide variant (missense variant +1 more)	AXIN1-related disorder	GBenign
Select item 2264291	NM_003502.4(AXIN1):c.1264G>A (p.Gly422Ser)	AXIN1 (G422S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236849	NM_003502.4(AXIN1):c.1246G>A (p.Val416Met)	AXIN1 (V416M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466007	NM_003502.4(AXIN1):c.1244G>A (p.Arg415His)	AXIN1 (R415H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2645786	NM_003502.4(AXIN1):c.1167G>A (p.Ala389=)	AXIN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3036669	NM_003502.4(AXIN1):c.1145G>A (p.Arg382His)	AXIN1 (R382H)	Single nucleotide variant (missense variant +1 more)	AXIN1-related disorder	GLikely benign
Select item 2242363	NM_003502.4(AXIN1):c.1144C>T (p.Arg382Cys)	AXIN1 (R382C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334315	NM_003502.4(AXIN1):c.1126C>T (p.Arg376Trp)	AXIN1 (R376W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206929	NM_003502.4(AXIN1):c.1118G>A (p.Arg373His)	AXIN1 (R373H)	Single nucleotide variant (missense variant +1 more)	Hepatocellular carcinoma +1 more	GUncertain significance
Select item 3057946	NM_003502.4(AXIN1):c.1116+10G>A	AXIN1	Single nucleotide variant (intron variant)	AXIN1-related disorder	GLikely benign
Select item 6037	NM_003502.4(AXIN1):c.1085_1116del (p.Val362fs)	AXIN1 (V362fs)	Deletion (frameshift variant)	Hepatocellular carcinoma	GPathogenic
Select item 2354565	NM_003502.4(AXIN1):c.1054C>A (p.His352Asn)	AXIN1 (H352N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402702	NM_003502.4(AXIN1):c.1039A>G (p.Arg347Gly)	AXIN1 (R347G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3337843	NM_003502.4(AXIN1):c.892C>T (p.Arg298Trp)	AXIN1 (R298W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2531434	NM_003502.4(AXIN1):c.859A>G (p.Ser287Gly)	AXIN1 (S287G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3067213	NM_003502.4(AXIN1):c.833C>T (p.Pro278Leu)	AXIN1 (P278L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3132484	NM_003502.4(AXIN1):c.824C>T (p.Thr275Ile)	AXIN1 (T275I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 594441	NM_003502.4(AXIN1):c.787C>A (p.Pro263Thr)	AXIN1 (P263T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 402405	NM_003502.4(AXIN1):c.762T>C (p.Asp254=)	AXIN1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 2296960	NM_003502.4(AXIN1):c.685G>C (p.Gly229Arg)	AXIN1 (G229R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494837	NM_003502.4(AXIN1):c.595C>A (p.Pro199Thr)	AXIN1 (P199T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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