ClinVar for Gene (Select 51364) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 222

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3383004	NM_015896.4(ZMYND10):c.31del (p.Glu11fs)	ZMYND10 (E11fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 22	GPathogenic
Select item 3379471	NM_015896.4(ZMYND10):c.427C>A (p.Arg143Ser)	ZMYND10 (R143S)	Single nucleotide variant (missense variant)	not provided	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 3334830	NM_015896.4(ZMYND10):c.110A>C (p.Glu37Ala)	ZMYND10 (E37A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3334829	NM_015896.4(ZMYND10):c.592G>A (p.Val198Met)	ZMYND10 (V198M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3235828	NM_015896.4(ZMYND10):c.92+32G>T	ZMYND10	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 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 3193830	NM_015896.4(ZMYND10):c.495C>A (p.Asp165Glu)	ZMYND10 (D165E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064060	NM_015896.4(ZMYND10):c.292C>A (p.Gln98Lys)	ZMYND10 (Q98K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 22	Gnot provided
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
Select item 3023491	NM_015896.4(ZMYND10):c.43C>T (p.Leu15=)	ZMYND10	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3004361	NM_015896.4(ZMYND10):c.93-11C>T	ZMYND10	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2990294	NM_015896.4(ZMYND10):c.152C>T (p.Thr51Ile)	ZMYND10 (T51I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2968199	NM_015896.4(ZMYND10):c.477G>A (p.Glu159=)	ZMYND10	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2920049	NM_015896.4(ZMYND10):c.297C>T (p.Asn99=)	ZMYND10	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely 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 2910885	NM_015896.4(ZMYND10):c.700+15C>G	ZMYND10	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2896583	NM_015896.4(ZMYND10):c.240G>A (p.Met80Ile)	ZMYND10 (M80I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2889701	NM_015896.4(ZMYND10):c.92+15T>A	ZMYND10	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2889619	NM_015896.4(ZMYND10):c.495C>T (p.Asp165=)	ZMYND10	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2884851	NM_015896.4(ZMYND10):c.599+19C>T	ZMYND10	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
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 2875948	NM_015896.4(ZMYND10):c.600-15C>T	ZMYND10	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
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 2863503	NM_015896.4(ZMYND10):c.1247+18C>A	ZMYND10	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
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 2825291	NM_015896.4(ZMYND10):c.92+11C>T	ZMYND10	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2819500	NM_015896.4(ZMYND10):c.312C>T (p.Tyr104=)	ZMYND10	Single nucleotide variant (synonymous 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 2796752	NM_015896.4(ZMYND10):c.873+20A>C	ZMYND10	Single nucleotide variant (intron 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 2776452	NM_015896.4(ZMYND10):c.372+20C>T	ZMYND10	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2772131	NM_015896.4(ZMYND10):c.201+9A>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 2742750	NM_015896.4(ZMYND10):c.88G>T (p.Glu30Ter)	ZMYND10 (E30*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
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 2734537	NM_015896.4(ZMYND10):c.1096C>T (p.Gln366Ter)	ZMYND10 (Q361* +1 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
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 2724580	NM_015896.4(ZMYND10):c.246G>A (p.Lys82=)	ZMYND10	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
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 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 2707760	NM_015896.4(ZMYND10):c.700+14C>G	ZMYND10	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
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 2700007	NM_015896.4(ZMYND10):c.1122-16C>T	ZMYND10	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2694149	NM_015896.4(ZMYND10):c.76G>T (p.Glu26Ter)	ZMYND10 (E26*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 2631568	NM_015896.4(ZMYND10):c.668dup (p.Glu224fs)	ZMYND10 (E224fs)	Duplication (frameshift variant +1 more)	ZMYND10-related disorder	GLikely pathogenic
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 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 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 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 2480884	NM_015896.4(ZMYND10):c.590G>A (p.Cys197Tyr)	ZMYND10 (C197Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2431468	NM_015896.4(ZMYND10):c.510+1del	ZMYND10	Deletion (splice donor variant)	Primary ciliary dyskinesia 22	GLikely pathogenic
Select item 2426218	NC_000003.11:g.(?_49866536)_(50540854_?)dup	CACNA2D2, CAMKV +23 more	Duplication	Primary ciliary dyskinesia	GUncertain significance
Select item 2425465	NC_000003.11:g.(?_50378802)_(50471880_?)del	CACNA2D2, CYB561D2 +3 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2413424	NM_015896.4(ZMYND10):c.92+14G>A	ZMYND10	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GBenign
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 2328347	NM_015896.4(ZMYND10):c.584C>T (p.Thr195Ile)	ZMYND10 (T195I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2197376	NM_015896.4(ZMYND10):c.20T>C (p.Leu7Pro)	ZMYND10 (L7P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
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 2195423	NM_015896.4(ZMYND10):c.1121+10G>A	ZMYND10	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely 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 2188303	NM_015896.4(ZMYND10):c.356C>T (p.Thr119Ile)	ZMYND10 (T119I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2187554	NM_015896.4(ZMYND10):c.600-15C>A	ZMYND10	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2185947	NM_015896.4(ZMYND10):c.373-14C>T	ZMYND10	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
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 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 2167324	NM_015896.4(ZMYND10):c.1089C>G (p.Pro363=)	ZMYND10	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
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 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 2151516	NM_015896.4(ZMYND10):c.202-11A>G	ZMYND10	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2149054	NM_015896.4(ZMYND10):c.873+14C>T	ZMYND10	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2143528	NM_015896.4(ZMYND10):c.372+9C>T	ZMYND10	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2142179	NM_015896.4(ZMYND10):c.691C>T (p.Arg231Trp)	ZMYND10 (R231W)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
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 2113621	NM_015896.4(ZMYND10):c.633C>T (p.Ser211=)	ZMYND10	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2100629	NM_015896.4(ZMYND10):c.367C>T (p.His123Tyr)	ZMYND10 (H123Y)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2097320	NM_015896.4(ZMYND10):c.578A>G (p.Tyr193Cys)	ZMYND10 (Y193C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
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 2067168	NM_015896.4(ZMYND10):c.373-17CCT[2]	ZMYND10	Microsatellite (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2066979	NM_015896.4(ZMYND10):c.299C>T (p.Thr100Ile)	ZMYND10 (T100I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2065435	NM_015896.4(ZMYND10):c.461G>A (p.Cys154Tyr)	ZMYND10 (C154Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 2042630	NM_015896.4(ZMYND10):c.599+11C>T	ZMYND10	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2040816	NM_015896.4(ZMYND10):c.1A>G (p.Met1Val)	ZMYND10 (M1V)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2040520	NM_015896.4(ZMYND10):c.183_187del (p.Leu62fs)	ZMYND10 (L62fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 2019297	NM_015896.4(ZMYND10):c.1122-6C>T	ZMYND10	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2015009	NM_015896.4(ZMYND10):c.202-11A>C	ZMYND10	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2014317	NM_015896.4(ZMYND10):c.294G>A (p.Gln98=)	ZMYND10	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2009556	NM_015896.4(ZMYND10):c.562C>G (p.Leu188Val)	ZMYND10 (L188V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2001147	NM_015896.4(ZMYND10):c.600-22_600-12del	ZMYND10	Deletion (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2001137	NM_015896.4(ZMYND10):c.600-9_600-8insA	ZMYND10	Insertion (intron variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1987728	NM_015896.4(ZMYND10):c.168G>A (p.Glu56=)	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 1944999	NM_015896.4(ZMYND10):c.1155G>A (p.Glu385=)	ZMYND10	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
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 1808347	GRCh37/hg19 3p21.31(chr3:50364292-50492932)x1	CACNA2D2, CYB561D2 +5 more	Copy number loss	not provided	GUncertain significance
Select item 1806284	NM_015896.4(ZMYND10):c.373-1G>A	ZMYND10	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia 22	GUncertain significance
Select item 1705506	NM_015896.4(ZMYND10):c.490C>T (p.Gln164Ter)	ZMYND10 (Q164*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +1 more	GPathogenic

<< First< Prev

Page of 3