ClinVar for MedGen (Select 355358) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3257723	NM_021926.4(ALX4):c.1016dup (p.Gly340fs)	ALX4 (G340fs)	Duplication (frameshift variant)	Parietal foramina 2	GLikely pathogenic
Select item 1696378	NM_021926.4(ALX4):c.16dup (p.Cys6fs)	ALX4 (C6fs)	Duplication (frameshift variant)	not provided +1 more	GLikely pathogenic
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 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)	not provided +1 more	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)	not provided +2 more	GUncertain significance
Select item 879085	NM_021926.4(ALX4):c.474G>C (p.Glu158Asp)	ALX4 (E158D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
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
Select item 878984	NM_021926.4(ALX4):c.*1076C>T	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 878983	NM_021926.4(ALX4):c.*1122G>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 878933	NM_021926.4(ALX4):c.*2181A>G	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 878932	NM_021926.4(ALX4):c.*2208C>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 878931	NM_021926.4(ALX4):c.*2349C>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GLikely benign
Select item 878886	NM_021926.4(ALX4):c.*3123G>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 878885	NM_021926.4(ALX4):c.*3134G>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 878884	NM_021926.4(ALX4):c.*3220G>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 878505	NM_021926.4(ALX4):c.620C>T (p.Ser207Leu)	ALX4 (S207L)	Single nucleotide variant (missense variant)	Parietal foramina 2	GUncertain significance
Select item 878443	NM_021926.4(ALX4):c.*437C>T	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 878442	NM_021926.4(ALX4):c.*562C>G	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 878341	NM_021926.4(ALX4):c.*2463T>C	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 878298	NM_021926.4(ALX4):c.*3259G>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 878297	NM_021926.4(ALX4):c.*3405G>T	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 878296	NM_021926.4(ALX4):c.*3553T>C	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 877476	NM_021926.4(ALX4):c.917C>T (p.Pro306Leu)	ALX4 (P306L)	Single nucleotide variant (missense variant)	Parietal foramina 2 +1 more	GConflicting classifications of pathogenicity
Select item 877475	NM_021926.4(ALX4):c.1149C>T (p.Asn383=)	ALX4	Single nucleotide variant (synonymous variant)	Parietal foramina 2	GLikely benign
Select item 877422	NM_021926.4(ALX4):c.*573C>T	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 877421	NM_021926.4(ALX4):c.*856G>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 877420	NM_021926.4(ALX4):c.*859C>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 877368	NM_021926.4(ALX4):c.*1590G>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 877367	NM_021926.4(ALX4):c.*1599C>T	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 877366	NM_021926.4(ALX4):c.*1627T>G	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 877314	NM_021926.4(ALX4):c.*2750G>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 877313	NM_021926.4(ALX4):c.*2845G>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 877312	NM_021926.4(ALX4):c.*2861C>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GLikely benign
Select item 877253	NM_021926.4(ALX4):c.*3626T>G	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 877252	NM_021926.4(ALX4):c.*3769T>C	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 877251	NM_021926.4(ALX4):c.*3773A>G	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 877250	NM_021926.4(ALX4):c.*3949C>G	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 778420	NM_021926.4(ALX4):c.1106G>A (p.Gly369Glu)	ALX4 (G369E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 732792	NM_021926.4(ALX4):c.226C>A (p.Pro76Thr)	ALX4 (P76T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 723770	NM_021926.4(ALX4):c.1035C>T (p.Ser345=)	ALX4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 721962	NM_021926.4(ALX4):c.1182G>A (p.Ala394=)	ALX4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 710007	NM_021926.4(ALX4):c.918G>A (p.Pro306=)	ALX4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 631658	NM_021926.4(ALX4):c.787C>T (p.Gln263Ter)	ALX4 (Q263*)	Single nucleotide variant (nonsense)	Parietal foramina 2	GUncertain significance
Select item 304717	NM_021926.4(ALX4):c.63C>T (p.Tyr21=)	ALX4	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 304716	NM_021926.4(ALX4):c.69G>C (p.Pro23=)	ALX4	Single nucleotide variant (synonymous variant)	Craniosynostosis 5, susceptibility to +3 more	GBenign
Select item 304715	NM_021926.4(ALX4):c.104G>C (p.Arg35Thr)	ALX4 (R35T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 304714	NM_021926.4(ALX4):c.188G>A (p.Arg63Gln)	ALX4 (R63Q)	Single nucleotide variant (missense variant)	Parietal foramina 2 +1 more	GConflicting classifications of pathogenicity
Select item 304712	NM_021926.4(ALX4):c.280C>T (p.Pro94Ser)	ALX4 (P94S)	Single nucleotide variant (missense variant)	Parietal foramina 2	GUncertain significance
Select item 304711	NM_021926.4(ALX4):c.304C>T (p.Pro102Ser)	ALX4 (P102S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 304710	NM_021926.4(ALX4):c.348G>T (p.Pro116=)	ALX4	Single nucleotide variant (synonymous variant)	Parietal foramina 2	GUncertain significance
Select item 304709	NM_021926.4(ALX4):c.561G>T (p.Val187=)	ALX4	Single nucleotide variant (synonymous variant)	Parietal foramina 2	GUncertain significance
Select item 304708	NM_021926.4(ALX4):c.569C>T (p.Pro190Leu)	ALX4 (P190L)	Single nucleotide variant (missense variant)	Parietal foramina 2 +1 more	GUncertain significance
Select item 304707	NM_021926.4(ALX4):c.594C>A (p.Leu198=)	ALX4	Single nucleotide variant (synonymous variant)	Parietal foramina 2 +1 more	GBenign
Select item 304706	NM_021926.4(ALX4):c.621A>G (p.Ser207=)	ALX4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 304705	NM_021926.4(ALX4):c.728C>T (p.Ala243Val)	ALX4 (A243V)	Single nucleotide variant (missense variant)	Parietal foramina 2	GLikely benign
Select item 304704	NM_021926.4(ALX4):c.729G>A (p.Ala243=)	ALX4	Single nucleotide variant (synonymous variant)	Parietal foramina 2 +1 more	GBenign
Select item 304703	NM_021926.4(ALX4):c.778-11G>A	ALX4	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 304702	NM_021926.4(ALX4):c.879C>T (p.Leu293=)	ALX4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 304701	NM_021926.4(ALX4):c.1074C>T (p.His358=)	ALX4	Single nucleotide variant (synonymous variant)	Frontonasal dysplasia with alopecia and genital anomaly +2 more	GBenign
Select item 304700	NM_021926.4(ALX4):c.1163G>A (p.Arg388His)	ALX4 (R388H)	Single nucleotide variant (missense variant)	Parietal foramina 2 +1 more	GUncertain significance
Select item 304699	NM_021926.4(ALX4):c.1185C>G (p.Ala395=)	ALX4	Single nucleotide variant (synonymous variant)	Parietal foramina 2	GUncertain significance
Select item 304698	NM_021926.4(ALX4):c.1206G>A (p.Glu402=)	ALX4	Single nucleotide variant (synonymous variant)	Parietal foramina 2	GUncertain significance
Select item 304697	NM_021926.4(ALX4):c.*25C>T	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GLikely benign
Select item 304696	NM_021926.4(ALX4):c.*79G>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 304695	NM_021926.4(ALX4):c.*156G>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2 +1 more	GBenign/Likely benign
Select item 304694	NM_021926.4(ALX4):c.*228C>T	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2 +1 more	GBenign
Select item 304693	NM_021926.4(ALX4):c.*262G>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 304692	NM_021926.4(ALX4):c.*266T>G	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2 +1 more	GBenign/Likely benign
Select item 304691	NM_021926.4(ALX4):c.*290T>C	ALX4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 304690	NM_021926.4(ALX4):c.*296C>T	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 304688	NM_021926.4(ALX4):c.*517C>T	ALX4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 304687	NM_021926.4(ALX4):c.*524C>T	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 304686	NM_021926.4(ALX4):c.*547A>G	ALX4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 304685	NM_021926.4(ALX4):c.*563C>T	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GLikely benign
Select item 304684	NM_021926.4(ALX4):c.*782A>G	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 304682	NM_021926.4(ALX4):c.*855C>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 304681	NM_021926.4(ALX4):c.*867C>T	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 304680	NM_021926.4(ALX4):c.*899C>T	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GLikely benign
Select item 304679	NM_021926.4(ALX4):c.*902G>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 304678	NM_021926.4(ALX4):c.*922T>G	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 304677	NM_021926.4(ALX4):c.*923C>T	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 304676	NM_021926.4(ALX4):c.*944G>T	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 304675	NM_021926.4(ALX4):c.*963G>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 304674	NM_021926.4(ALX4):c.*972C>T	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 304673	NM_021926.4(ALX4):c.*973G>A	ALX4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign

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