ClinVar for Gene (Select 60529) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3114510	NM_021926.4(ALX4):c.373C>G (p.Gln125Glu)	ALX4 (Q125E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114476	NM_021926.4(ALX4):c.1070G>A (p.Ser357Asn)	ALX4 (S357N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114472	NM_021926.4(ALX4):c.1069A>G (p.Ser357Gly)	ALX4 (S357G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3043724	NM_021926.4(ALX4):c.771C>T (p.Arg257=)	ALX4	Single nucleotide variant (synonymous variant)	ALX4-related disorder	GLikely benign
Select item 3042240	NM_021926.4(ALX4):c.1140C>T (p.Tyr380=)	ALX4	Single nucleotide variant (synonymous variant)	ALX4-related disorder	GLikely benign
Select item 3035610	NM_021926.4(ALX4):c.963C>T (p.Cys321=)	ALX4	Single nucleotide variant (synonymous variant)	ALX4-related disorder	GLikely benign
Select item 3034821	NM_021926.4(ALX4):c.927C>T (p.Leu309=)	ALX4	Single nucleotide variant (synonymous variant)	ALX4-related disorder	GLikely benign
Select item 3032817	NM_021926.4(ALX4):c.17G>C (p.Cys6Ser)	ALX4 (C6S)	Single nucleotide variant (missense variant)	ALX4-related disorder	GUncertain significance
Select item 3027183	NM_021926.4(ALX4):c.497T>C (p.Leu166Ser)	ALX4 (L166S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3026651	NM_021926.4(ALX4):c.848C>T (p.Thr283Ile)	ALX4 (T283I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992820	NM_021926.4(ALX4):c.311A>C (p.Gln104Pro)	ALX4 (Q104P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2983173	NM_021926.4(ALX4):c.1181C>T (p.Ala394Val)	ALX4 (A394V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977219	NM_021926.4(ALX4):c.1086G>A (p.Thr362=)	ALX4	Single nucleotide variant (synonymous variant)	ALX4-related disorder +1 more	GLikely benign
Select item 2885796	NM_021926.4(ALX4):c.936C>T (p.Asn312=)	ALX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2740068	NM_021926.4(ALX4):c.770G>A (p.Arg257His)	ALX4 (R257H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2726379	NM_021926.4(ALX4):c.82C>G (p.Arg28Gly)	ALX4 (R28G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2710131	NM_021926.4(ALX4):c.1036G>A (p.Val346Ile)	ALX4 (V346I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682314	NM_021926.4(ALX4):c.154G>A (p.Ala52Thr)	ALX4 (A52T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2662696	NM_021926.4(ALX4):c.783G>T (p.Trp261Cys)	ALX4 (W261C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2641732	NM_021926.4(ALX4):c.330GCAGCC[3] (p.Pro116_Pro117insGlnPro)	ALX4	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2641731	NM_021926.4(ALX4):c.788A>G (p.Gln263Arg)	ALX4 (Q263R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2641730	NM_021926.4(ALX4):c.1173G>A (p.Ser391=)	ALX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2631424	NM_021926.4(ALX4):c.484G>A (p.Gly162Ser)	ALX4 (G162S)	Single nucleotide variant (missense variant)	ALX4-related disorder	GUncertain significance
Select item 2548685	NM_021926.4(ALX4):c.5A>G (p.Asn2Ser)	ALX4 (N2S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526334	NM_021926.4(ALX4):c.554C>T (p.Ala185Val)	ALX4 (A185V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507064	NM_021926.4(ALX4):c.901G>C (p.Ala301Pro)	ALX4 (A301P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505910	NM_021926.4(ALX4):c.994A>C (p.Met332Leu)	ALX4 (M332L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502576	NM_021926.4(ALX4):c.171C>A (p.Phe57Leu)	ALX4 (F57L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2472905	NM_021926.4(ALX4):c.1001C>T (p.Pro334Leu)	ALX4 (P334L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463413	NM_021926.4(ALX4):c.1180G>A (p.Ala394Thr)	ALX4 (A394T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2443152	NM_021926.4(ALX4):c.528C>G (p.Asp176Glu)	ALX4 (D176E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408400	NM_021926.4(ALX4):c.321_341del (p.Gln109_Gln115del)	ALX4	Deletion (inframe_deletion)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2406658	NM_021926.4(ALX4):c.391A>G (p.Thr131Ala)	ALX4 (T131A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399634	NM_021926.4(ALX4):c.1153G>C (p.Glu385Gln)	ALX4 (E385Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360534	NM_021926.4(ALX4):c.845G>A (p.Arg282Gln)	ALX4 (R282Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348417	NM_021926.4(ALX4):c.887G>A (p.Arg296Gln)	ALX4 (R296Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2342488	NM_021926.4(ALX4):c.928G>A (p.Gly310Ser)	ALX4 (G310S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334581	NM_021926.4(ALX4):c.527A>G (p.Asp176Gly)	ALX4 (D176G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2334124	NM_021926.4(ALX4):c.505G>A (p.Asp169Asn)	ALX4 (D169N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318157	NM_021926.4(ALX4):c.866A>G (p.Tyr289Cys)	ALX4 (Y289C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292137	NM_021926.4(ALX4):c.370T>G (p.Leu124Val)	ALX4 (L124V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245773	NM_021926.4(ALX4):c.361C>T (p.His121Tyr)	ALX4 (H121Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232224	NM_021926.4(ALX4):c.1142A>G (p.Glu381Gly)	ALX4 (E381G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209165	NM_021926.4(ALX4):c.569C>A (p.Pro190His)	ALX4 (P190H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209130	NM_021926.4(ALX4):c.1214C>G (p.Ala405Gly)	ALX4 (A405G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2137063	NM_021926.4(ALX4):c.730C>T (p.Arg244Trp)	ALX4 (R244W)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2032730	NM_021926.4(ALX4):c.331C>T (p.Gln111Ter)	ALX4 (Q111*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1904706	NM_021926.4(ALX4):c.253G>A (p.Gly85Ser)	ALX4 (G85S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1708712	NM_021926.4(ALX4):c.907-48C>T	ALX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1707462	Single allele	ACCS, ACCSL +63 more	Duplication	not specified	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACCS, ACCSL +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1703555	GRCh37/hg19 11p11.2(chr11:43769957-44952669)	ACCS, ACCSL +7 more	Copy number loss	Potocki-Shaffer syndrome	GPathogenic
Select item 1702688	NM_021926.4(ALX4):c.886C>T (p.Arg296Ter)	ALX4 (R296*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1696378	NM_021926.4(ALX4):c.16dup (p.Cys6fs)	ALX4 (C6fs)	Duplication (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 1695760	NM_021926.4(ALX4):c.772G>A (p.Val258Met)	ALX4 (V258M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1690439	NM_021926.4(ALX4):c.1017del (p.Gly340fs)	ALX4 (G340fs)	Deletion (frameshift variant)	See cases	GLikely pathogenic
Select item 1340048	GRCh37/hg19 11p12-11.2(chr11:40117145-46920718)x1	ACCS, ACCSL +33 more	Copy number loss	not provided	GPathogenic
Select item 1311619	NM_021926.4(ALX4):c.166G>A (p.Gly56Arg)	ALX4 (G56R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311027	NM_021926.4(ALX4):c.648G>A (p.Arg216=)	ALX4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1278277	NM_021926.4(ALX4):c.777+70G>A	ALX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270474	NM_021926.4(ALX4):c.907-186C>T	ALX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264586	NM_021926.4(ALX4):c.467-259C>T	ALX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259900	NM_021926.4(ALX4):c.467-135G>T	ALX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256897	NM_021926.4(ALX4):c.907-295A>G	ALX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235922	NM_021926.4(ALX4):c.467-270C>T	ALX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234252	NM_021926.4(ALX4):c.778-263C>G	ALX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230169	NM_021926.4(ALX4):c.907-72G>A	ALX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219947	NM_021926.4(ALX4):c.906+86C>T	ALX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218614	NM_021926.4(ALX4):c.777+95C>T	ALX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216677	NC_000011.10:g.44310153G>T	ALX4	Single nucleotide variant	not provided	GLikely benign
Select item 1210513	NM_021926.4(ALX4):c.777+54C>T	ALX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204171	NM_021926.4(ALX4):c.906+32C>T	ALX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191110	NM_021926.4(ALX4):c.467-276T>C	ALX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188925	NM_021926.4(ALX4):c.467-45T>C	ALX4	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1188924	NM_021926.4(ALX4):c.778-140G>C	ALX4	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1188923	NM_021926.4(ALX4):c.778-117T>C	ALX4	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1183608	NM_021926.4(ALX4):c.907-125A>G	ALX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1177757	NM_021926.4(ALX4):c.*190del	ALX4	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 1077147	NM_021926.4(ALX4):c.2T>C (p.Met1Thr)	ALX4 (M1T)	Single nucleotide variant (missense variant +1 more)	Optic nerve glioma	GUncertain significance
Select item 1048986	NM_021926.4(ALX4):c.627C>A (p.Ser209Arg)	ALX4 (S209R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 979916	GRCh37/hg19 11p11.2(chr11:44266593-46123796)x4	ALX4, PRDM11 +13 more	Copy number gain	not provided	GUncertain significance
Select item 880307	NM_021926.4(ALX4):c.-36G>C	ALX4	Single nucleotide variant (5 prime UTR variant)	Parietal foramina 2	GBenign
Select item 880253	NM_021926.4(ALX4):c.1218C>T (p.Ala406=)	ALX4	Single nucleotide variant (synonymous variant)	Parietal foramina 2	GLikely benign
Select item 880252	NM_021926.4(ALX4):c.*18G>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 880251	NM_021926.4(ALX4):c.*46G>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 880210	NM_021926.4(ALX4):c.*962C>T	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 880154	NM_021926.4(ALX4):c.*1629C>T	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 880110	NM_021926.4(ALX4):c.*2939C>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 880109	NM_021926.4(ALX4):c.*3033G>C	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 880045	NM_021926.4(ALX4):c.*4094T>C	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 879088	NM_021926.4(ALX4):c.275C>G (p.Pro92Arg)	ALX4 (P92R)	Single nucleotide variant (missense variant)	Parietal foramina 2	GUncertain significance
Select item 879087	NM_021926.4(ALX4):c.291G>A (p.Pro97=)	ALX4	Single nucleotide variant (synonymous variant)	Parietal foramina 2	GUncertain significance
Select item 879086	NM_021926.4(ALX4):c.347C>G (p.Pro116Arg)	ALX4 (P116R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 879085	NM_021926.4(ALX4):c.474G>C (p.Glu158Asp)	ALX4 (E158D)	Single nucleotide variant (missense variant)	Parietal foramina 2	GBenign
Select item 879038	NM_021926.4(ALX4):c.*196C>T	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GLikely benign
Select item 879037	NM_021926.4(ALX4):c.*229G>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 879036	NM_021926.4(ALX4):c.*407G>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GLikely benign
Select item 878985	NM_021926.4(ALX4):c.*1025C>T	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance

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