19412[HGNC] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 220

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 1221244	NM_015896.4(ZMYND10):c.*213T>C	ZMYND10	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1193297	NM_015896.4(ZMYND10):c.*134G>T	ZMYND10	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 454841	NM_015896.4(ZMYND10):c.1317C>T (p.Ala439=)	ZMYND10	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 961694	NM_015896.4(ZMYND10):c.1291G>A (p.Val431Ile)	ZMYND10 (V431I +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 763714	NM_015896.4(ZMYND10):c.1281A>G (p.Gly427=)	ZMYND10	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 658865	NM_015896.4(ZMYND10):c.1270G>A (p.Glu424Lys)	ZMYND10 (E419K +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2514283	NM_015896.4(ZMYND10):c.1259T>C (p.Val420Ala)	ZMYND10 (V420A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 454840	NM_015896.4(ZMYND10):c.1252_1253insA (p.Cys418Ter)	ZMYND10 (C418* +1 more)	Insertion (nonsense)	Primary ciliary dyskinesia	GUncertain significance
Select item 2626965	NM_015896.4(ZMYND10):c.1248-1G>T	ZMYND10	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia 22	GLikely pathogenic
Select item 1231903	NM_015896.4(ZMYND10):c.1248-30T>C	ZMYND10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2863503	NM_015896.4(ZMYND10):c.1247+18C>A	ZMYND10	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 959521	NM_015896.4(ZMYND10):c.1238A>G (p.Tyr413Cys)	ZMYND10 (Y408C +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1395746	NM_015896.4(ZMYND10):c.1220G>C (p.Arg407Pro)	ZMYND10 (R407P +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 644750	NM_015896.4(ZMYND10):c.1211G>A (p.Arg404His)	ZMYND10 (R399H +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1137743	NM_015896.4(ZMYND10):c.1197A>G (p.Ala399=)	ZMYND10	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2137024	NM_015896.4(ZMYND10):c.1178G>A (p.Arg393His)	ZMYND10 (R388H +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2161703	NM_015896.4(ZMYND10):c.1177C>G (p.Arg393Gly)	ZMYND10 (R393G +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1408322	NM_015896.4(ZMYND10):c.1177C>T (p.Arg393Cys)	ZMYND10 (R388C +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2173898	NM_015896.4(ZMYND10):c.1172G>A (p.Arg391Gln)	ZMYND10 (R386Q +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 574473	NM_015896.4(ZMYND10):c.1171C>T (p.Arg391Trp)	ZMYND10 (R391W +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 1034469	NM_015896.4(ZMYND10):c.1168G>A (p.Glu390Lys)	ZMYND10 (E385K +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 410631	NM_015896.4(ZMYND10):c.1163C>T (p.Ala388Val)	ZMYND10 (A388V +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1944999	NM_015896.4(ZMYND10):c.1155G>A (p.Glu385=)	ZMYND10	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1091666	NM_015896.4(ZMYND10):c.1140G>A (p.Arg380=)	ZMYND10	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2739861	NM_015896.4(ZMYND10):c.1137C>T (p.Tyr379=)	ZMYND10	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2019297	NM_015896.4(ZMYND10):c.1122-6C>T	ZMYND10	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2700007	NM_015896.4(ZMYND10):c.1122-16C>T	ZMYND10	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2744145	NM_015896.4(ZMYND10):c.1122-18T>C	ZMYND10	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2195423	NM_015896.4(ZMYND10):c.1121+10G>A	ZMYND10	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 577056	NM_015896.4(ZMYND10):c.1118G>A (p.Arg373Gln)	ZMYND10 (R373Q +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 2097186	NM_015896.4(ZMYND10):c.1117C>G (p.Arg373Gly)	ZMYND10 (R368G +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1122885	NM_015896.4(ZMYND10):c.1116G>A (p.Ala372=)	ZMYND10	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 792543	NM_015896.4(ZMYND10):c.1116G>T (p.Ala372=)	ZMYND10	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2195466	NM_015896.4(ZMYND10):c.1115C>T (p.Ala372Val)	ZMYND10 (A372V +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1624595	NM_015896.4(ZMYND10):c.1107G>T (p.Arg369=)	ZMYND10	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 241067	NM_015896.4(ZMYND10):c.1105C>T (p.Arg369Trp)	ZMYND10 (R369W +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GBenign/Likely benign
Select item 2917019	NM_015896.4(ZMYND10):c.1104G>A (p.Leu368=)	ZMYND10	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2734537	NM_015896.4(ZMYND10):c.1096C>T (p.Gln366Ter)	ZMYND10 (Q361* +1 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 2167324	NM_015896.4(ZMYND10):c.1089C>G (p.Pro363=)	ZMYND10	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1126392	NM_015896.4(ZMYND10):c.1086C>T (p.Ser362=)	ZMYND10	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 700107	NM_015896.4(ZMYND10):c.1080G>A (p.Val360=)	ZMYND10	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 241066	NM_015896.4(ZMYND10):c.1073A>G (p.Gln358Arg)	ZMYND10 (Q358R +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 22 +2 more	GBenign/Likely benign
Select item 2367763	NM_015896.4(ZMYND10):c.1061A>T (p.Lys354Met)	ZMYND10 (K349M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2728175	NM_015896.4(ZMYND10):c.1053A>G (p.Ala351=)	ZMYND10	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2722461	NM_015896.4(ZMYND10):c.1028G>A (p.Arg343Gln)	ZMYND10 (R343Q +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3370459	NM_015896.4(ZMYND10):c.1024G>T (p.Glu342Ter)	RASSF1, RASSF1-AS1 +2 more (E337* +1 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 22	GLikely pathogenic
Select item 241065	NM_015896.4(ZMYND10):c.1019G>A (p.Arg340Gln)	ZMYND10 (R340Q +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GBenign/Likely benign
Select item 2192015	NM_015896.4(ZMYND10):c.1018C>T (p.Arg340Trp)	ZMYND10 (R335W +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1595277	NM_015896.4(ZMYND10):c.1000-20T>C	ZMYND10	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 525561	NM_015896.4(ZMYND10):c.999+7A>T	ZMYND10	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1508614	NM_015896.4(ZMYND10):c.999+4G>A	ZMYND10	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 754519	NM_015896.4(ZMYND10):c.993G>A (p.Leu331=)	ZMYND10	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2777105	NM_015896.4(ZMYND10):c.984C>T (p.Asp328=)	ZMYND10	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 241073	NM_015896.4(ZMYND10):c.970C>A (p.Pro324Thr)	ZMYND10 (P324T +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GBenign/Likely benign
Select item 3255381	NM_015896.4(ZMYND10):c.967del (p.Gln323fs)	ZMYND10 (Q318fs +1 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia 22	GLikely pathogenic
Select item 66024	NM_015896.4(ZMYND10):c.967C>T (p.Gln323Ter)	ZMYND10 (Q323* +1 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 22	GPathogenic
Select item 2842611	NM_015896.4(ZMYND10):c.954C>A (p.Thr318=)	ZMYND10	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3193833	NM_015896.4(ZMYND10):c.952A>G (p.Thr318Ala)	ZMYND10 (T313A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 847084	NM_015896.4(ZMYND10):c.944C>A (p.Ala315Asp)	ZMYND10 (A310D +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2705424	NM_015896.4(ZMYND10):c.942G>C (p.Leu314=)	ZMYND10	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 658148	NM_015896.4(ZMYND10):c.922G>A (p.Ala308Thr)	ZMYND10 (A303T +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GUncertain significance
Select item 2606976	NM_015896.4(ZMYND10):c.880G>A (p.Ala294Thr)	ZMYND10 (A289T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 966024	NM_015896.4(ZMYND10):c.878G>A (p.Arg293Gln)	ZMYND10 (R293Q +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 2062467	NM_015896.4(ZMYND10):c.877C>T (p.Arg293Trp)	ZMYND10 (R288W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2796752	NM_015896.4(ZMYND10):c.873+20A>C	ZMYND10	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2817747	NM_015896.4(ZMYND10):c.873+18C>G	ZMYND10	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1645040	NM_015896.4(ZMYND10):c.873+15G>A	ZMYND10	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2149054	NM_015896.4(ZMYND10):c.873+14C>T	ZMYND10	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 454844	NM_015896.4(ZMYND10):c.873+4A>T	ZMYND10	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1490887	NM_015896.4(ZMYND10):c.863G>A (p.Arg288Gln)	ZMYND10 (R288Q +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1058661	NM_015896.4(ZMYND10):c.862C>T (p.Arg288Trp)	ZMYND10 (R283W +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 658049	NM_015896.4(ZMYND10):c.852T>A (p.Phe284Leu)	ZMYND10 (F279L +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 454843	NM_015896.4(ZMYND10):c.848G>A (p.Ser283Asn)	ZMYND10 (S283N +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1920922	NM_015896.4(ZMYND10):c.833G>A (p.Arg278His)	ZMYND10 (R273H +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 977535	NM_015896.4(ZMYND10):c.832C>T (p.Arg278Cys)	ZMYND10 (R273C +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1547065	NM_015896.4(ZMYND10):c.831G>A (p.Ala277=)	ZMYND10	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 565371	NM_015896.4(ZMYND10):c.830C>T (p.Ala277Val)	ZMYND10 (A277V +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1052577	NM_015896.4(ZMYND10):c.817C>T (p.Pro273Ser)	ZMYND10 (P268S +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 661352	NM_015896.4(ZMYND10):c.815G>A (p.Ser272Asn)	ZMYND10 (S272N +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2723078	NM_015896.4(ZMYND10):c.813A>G (p.Leu271=)	ZMYND10	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3193831	NM_015896.4(ZMYND10):c.809T>G (p.Leu270Arg)	ZMYND10 (L270R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 66026	NM_015896.4(ZMYND10):c.797T>C (p.Leu266Pro)	ZMYND10 (L266P +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GPathogenic
Select item 241072	NM_015896.4(ZMYND10):c.794C>T (p.Ala265Val)	ZMYND10 (A265V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1438577	NM_015896.4(ZMYND10):c.778G>A (p.Gly260Arg)	ZMYND10 (G255R +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 2867243	NM_015896.4(ZMYND10):c.777C>T (p.Asp259=)	ZMYND10	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1946792	NM_015896.4(ZMYND10):c.775G>T (p.Asp259Tyr)	ZMYND10 (D254Y +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 659127	NM_015896.4(ZMYND10):c.775G>A (p.Asp259Asn)	ZMYND10 (D259N +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1332867	NM_015896.4(ZMYND10):c.747del (p.Ser250fs)	ZMYND10 (S245fs +1 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia 22	GPathogenic
Select item 2876009	NM_015896.4(ZMYND10):c.732G>A (p.Trp244Ter)	ZMYND10 (W244* +1 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 2568534	NM_015896.4(ZMYND10):c.728G>A (p.Arg243His)	ZMYND10 (R243H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 241071	NM_015896.4(ZMYND10):c.727C>T (p.Arg243Cys)	ZMYND10 (R243C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 582793	NM_015896.4(ZMYND10):c.724A>G (p.Ser242Gly)	ZMYND10 (S242G +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 859004	NM_015896.4(ZMYND10):c.722G>A (p.Gly241Asp)	ZMYND10 (G236D +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2182585	NM_015896.4(ZMYND10):c.721G>A (p.Gly241Ser)	ZMYND10 (G236S +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 1457875	NM_015896.4(ZMYND10):c.709C>T (p.Gln237Ter)	ZMYND10 (Q232* +1 more)	Single nucleotide variant (nonsense)	ZMYND10-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 763131	NM_015896.4(ZMYND10):c.708G>A (p.Leu236=)	ZMYND10	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2160390	NM_015896.4(ZMYND10):c.701-18G>A	ZMYND10 (C223Y)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 3043014	NM_015896.4(ZMYND10):c.701-33G>A	ZMYND10 (R218H)	Single nucleotide variant (missense variant +1 more)	ZMYND10-related disorder	GLikely benign

<< First< Prev

Page of 3