8556[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LOC126805769, LOC126805770 +548 more	Copy number gain	See cases	GPathogenic
Select item 146007	GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1	AGL, AKNAD1 +194 more	Copy number loss	See cases	GPathogenic
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +332 more	Copy number loss	See cases	GPathogenic
Select item 2638939	NM_001319211.2(CDC14A):c.-125-1978A>G	CDC14A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186924	NM_001319211.2(CDC14A):c.-125-1565G>A	CDC14A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189779	NM_001319211.2(CDC14A):c.-125-1564C>G	CDC14A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197261	NM_003672.3(CDC14A):c.-470A>G	CDC14A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234793	NM_003672.4(CDC14A):c.-333G>C	CDC14A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1294730	NM_003672.4(CDC14A):c.-225A>T	CDC14A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1192711	NM_003672.4(CDC14A):c.-47T>C	CDC14A	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 32	GBenign
Select item 508149	NM_003672.4(CDC14A):c.-47=	CDC14A	Single nucleotide variant (no sequence alteration +1 more)	not specified	GLikely benign
Select item 513742	NM_003672.4(CDC14A):c.-14del	CDC14A	Deletion (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 666802	NM_003672.4(CDC14A):c.28G>C (p.Gly10Arg)	CDC14A (G10R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1120113	NM_003672.4(CDC14A):c.31G>A (p.Ala11Thr)	CDC14A (A11T)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2960110	NM_003672.4(CDC14A):c.35G>A (p.Cys12Tyr)	CDC14A (C12Y)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3052165	NM_003672.4(CDC14A):c.49+10A>T	CDC14A	Single nucleotide variant (intron variant)	CDC14A-related condition	GLikely benign
Select item 1202872	NM_003672.4(CDC14A):c.49+135A>G	CDC14A, LOC129931026	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1278440	NM_003672.4(CDC14A):c.49+169T>G	CDC14A, LOC129931026	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682965	NM_003672.4(CDC14A):c.50-45T>C	CDC14A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2958624	NM_003672.4(CDC14A):c.50-11T>G	CDC14A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1299312	NM_003672.4(CDC14A):c.50-1G>T	CDC14A	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 32	GLikely pathogenic
Select item 1531216	NM_003672.4(CDC14A):c.60T>C (p.Tyr20=)	CDC14A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1472498	NM_003672.4(CDC14A):c.98A>G (p.Asn33Ser)	CDC14A (N33S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1207068	NM_003672.4(CDC14A):c.140+281C>G	CDC14A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212556	NM_003672.4(CDC14A):c.141-293T>C	CDC14A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1242375	NM_003672.4(CDC14A):c.141-229G>T	CDC14A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 517571	NM_003672.4(CDC14A):c.192C>T (p.Cys64=)	CDC14A	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 2410994	NM_003672.4(CDC14A):c.203A>G (p.Asn68Ser)	CDC14A (N68S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1388281	NM_003672.4(CDC14A):c.214A>G (p.Lys72Glu)	CDC14A (K14E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1251278	NM_003672.4(CDC14A):c.217-263T>A	CDC14A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1917632	NM_003672.4(CDC14A):c.217-20T>A	CDC14A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2026471	NM_003672.4(CDC14A):c.217-7T>C	CDC14A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1697125	NM_003672.4(CDC14A):c.251A>G (p.Tyr84Cys)	CDC14A (Y26C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2300227	NM_003672.4(CDC14A):c.254C>G (p.Thr85Ser)	CDC14A (T27S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2602571	NM_003672.4(CDC14A):c.302C>T (p.Ala101Val)	CDC14A (A43V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2059929	NM_003672.4(CDC14A):c.302C>G (p.Ala101Gly)	CDC14A (A43G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 506035	NM_003672.4(CDC14A):c.309A>C (p.Ala103=)	CDC14A	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 3006749	NM_003672.4(CDC14A):c.309+9del	CDC14A	Deletion (intron variant)	not provided	GLikely benign
Select item 1181377	NM_003672.4(CDC14A):c.309+99C>T	CDC14A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258050	NM_003672.4(CDC14A):c.309+145A>G	CDC14A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260010	NM_003672.4(CDC14A):c.309+267A>T	CDC14A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1541212	NM_003672.4(CDC14A):c.310-9450A>T	CDC14A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252574	NM_003672.4(CDC14A):c.310-18A>G	CDC14A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2540396	NM_003672.4(CDC14A):c.340G>A (p.Ala114Thr)	CDC14A (A114T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1712116	NM_003672.4(CDC14A):c.349G>A (p.Ala117Thr)	CDC14A (A117T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2888825	NM_003672.4(CDC14A):c.357G>C (p.Leu119=)	CDC14A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2197194	NM_003672.4(CDC14A):c.375del (p.Tyr126fs)	CDC14A (Y68fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1708615	NM_003672.4(CDC14A):c.370C>G (p.Pro124Ala)	CDC14A (P124A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2571790	NM_003672.4(CDC14A):c.374C>T (p.Pro125Leu)	CDC14A (P125L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2373955	NM_003672.4(CDC14A):c.374C>A (p.Pro125His)	CDC14A (P125H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 666801	NM_003672.4(CDC14A):c.374C>G (p.Pro125Arg)	CDC14A (P67R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 559437	NM_003672.4(CDC14A):c.376del (p.Tyr126fs)	CDC14A (Y126fs +1 more)	Deletion (frameshift variant +1 more)	Autosomal recessive nonsyndromic hearing loss 32	GPathogenic
Select item 1217218	NM_003672.4(CDC14A):c.390-142G>A	CDC14A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196510	NM_003672.4(CDC14A):c.390-83C>T	CDC14A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 930064	NM_003672.4(CDC14A):c.394G>T (p.Ala132Ser)	CDC14A (A74S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 638290	NM_003672.4(CDC14A):c.417C>G (p.Tyr139Ter)	CDC14A (Y139* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 32	GPathogenic
Select item 1392967	NM_003672.4(CDC14A):c.456G>A (p.Lys152=)	CDC14A	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1234930	NM_003672.4(CDC14A):c.456+15C>G	CDC14A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181615	NM_003672.4(CDC14A):c.456+15C>T	CDC14A	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1211692	NM_003672.4(CDC14A):c.456+111A>G	CDC14A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217648	NM_003672.4(CDC14A):c.456+208G>A	CDC14A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1242966	NM_003672.4(CDC14A):c.457-166A>G	CDC14A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667084	NM_003672.4(CDC14A):c.457-6T>C	CDC14A	Single nucleotide variant (intron variant)	CDC14A-related condition +3 more	GLikely benign
Select item 1649383	NM_003672.4(CDC14A):c.471A>C (p.Gly157=)	CDC14A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1383312	NM_003672.4(CDC14A):c.476T>A (p.Phe159Tyr)	CDC14A (F101Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1405587	NM_003672.4(CDC14A):c.512A>T (p.His171Leu)	CDC14A (H113L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1260614	NM_003672.4(CDC14A):c.519+25A>T	CDC14A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273053	NM_003672.4(CDC14A):c.519+82T>C	CDC14A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280919	NM_003672.4(CDC14A):c.519+126G>T	CDC14A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285768	NM_003672.4(CDC14A):c.519+174A>G	CDC14A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201582	NM_003672.4(CDC14A):c.520-60C>T	CDC14A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196201	NM_003672.4(CDC14A):c.520-16T>C	CDC14A	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 667367	NM_003672.4(CDC14A):c.520C>T (p.Arg174Ter)	CDC14A (R116* +1 more)	Single nucleotide variant (nonsense +1 more)	Rare genetic deafness	GLikely pathogenic
Select item 2475620	NM_003672.4(CDC14A):c.523G>A (p.Val175Ile)	CDC14A (V117I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1352857	NM_003672.4(CDC14A):c.542A>G (p.Asn181Ser)	CDC14A (N181S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2791343	NM_003672.4(CDC14A):c.547_552del (p.Ile183_Val184del)	CDC14A	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1707252	NM_003672.4(CDC14A):c.581C>G (p.Pro194Arg)	CDC14A (P136R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1448360	NM_003672.4(CDC14A):c.586C>T (p.Pro196Ser)	CDC14A (P138S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1576302	NM_003672.4(CDC14A):c.607+14dup	CDC14A	Duplication (intron variant)	not provided	GBenign
Select item 684185	NM_003672.4(CDC14A):c.607+30C>A	CDC14A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265286	NM_003672.4(CDC14A):c.607+142A>G	CDC14A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203825	NM_003672.4(CDC14A):c.607+182A>T	CDC14A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1260334	NM_003672.4(CDC14A):c.608-152G>T	CDC14A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 506036	NM_003672.4(CDC14A):c.608-10G>A	CDC14A	Single nucleotide variant (intron variant)	CDC14A-related condition +2 more	GBenign
Select item 1711219	NM_003672.4(CDC14A):c.608-7C>A	CDC14A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2811591	NM_003672.4(CDC14A):c.612T>A (p.Tyr204Ter)	CDC14A (Y146* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1939595	NM_003672.4(CDC14A):c.613C>T (p.Pro205Ser)	CDC14A (P147S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2638940	NM_003672.4(CDC14A):c.632C>T (p.Ala211Val)	CDC14A (A153V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1352214	NM_003672.4(CDC14A):c.632C>G (p.Ala211Gly)	CDC14A (A153G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1451885	NM_003672.4(CDC14A):c.694del (p.Tyr232fs)	CDC14A (Y174fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1463754	NM_003672.4(CDC14A):c.706C>T (p.Arg236Cys)	CDC14A (R178C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1208285	NM_003672.4(CDC14A):c.717C>T (p.Asp239=)	CDC14A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1553583	NM_003672.4(CDC14A):c.748A>G (p.Ile250Val)	CDC14A (I192V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1220944	NM_003672.4(CDC14A):c.778G>A (p.Val260Met)	CDC14A (V202M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1214287	NM_003672.4(CDC14A):c.780G>A (p.Val260=)	CDC14A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2507228	NM_003672.4(CDC14A):c.781C>T (p.Arg261Ter)	CDC14A (R203* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2255882	NM_003672.4(CDC14A):c.782G>A (p.Arg261Gln)	CDC14A (R203Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2900286	NM_003672.4(CDC14A):c.792G>C (p.Leu264=)	CDC14A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2196007	NM_003672.4(CDC14A):c.798C>T (p.Ile266=)	CDC14A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2053474	NM_003672.4(CDC14A):c.810C>T (p.Thr270=)	CDC14A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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