ClinVar for Gene (Select 161582) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3083356	NM_130810.4(DNAAF4):c.917A>G (p.Tyr306Cys)	DNAAF4, DNAAF4-CCPG1 (Y306C)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3083355	NM_130810.4(DNAAF4):c.86G>A (p.Arg29Lys)	DNAAF4, DNAAF4-CCPG1 (R29K)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3083354	NM_130810.4(DNAAF4):c.583A>G (p.Ile195Val)	DNAAF4, DNAAF4-CCPG1 (I195V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3083353	NM_130810.4(DNAAF4):c.455G>A (p.Arg152Gln)	DNAAF4, DNAAF4-CCPG1 (R152Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3083352	NM_130810.4(DNAAF4):c.349G>A (p.Ala117Thr)	DNAAF4, DNAAF4-CCPG1 (A117T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3083351	NM_130810.4(DNAAF4):c.311T>C (p.Ile104Thr)	DNAAF4, DNAAF4-CCPG1 (I104T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3083350	NM_130810.4(DNAAF4):c.299G>C (p.Arg100Thr)	DNAAF4, DNAAF4-CCPG1 (R100T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3083349	NM_130810.4(DNAAF4):c.237A>C (p.Glu79Asp)	DNAAF4, DNAAF4-CCPG1 (E79D)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3083348	NM_130810.4(DNAAF4):c.167C>T (p.Pro56Leu)	DNAAF4, DNAAF4-CCPG1 (P56L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3083347	NM_130810.4(DNAAF4):c.134C>G (p.Pro45Arg)	DNAAF4, DNAAF4-CCPG1 (P45R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3083346	NM_130810.4(DNAAF4):c.1213G>C (p.Asp405His)	DNAAF4, DNAAF4-CCPG1 (D405H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3083345	NM_130810.4(DNAAF4):c.118C>A (p.Leu40Met)	DNAAF4, DNAAF4-CCPG1 (L40M)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3083344	NM_130810.4(DNAAF4):c.1184T>G (p.Ile395Ser)	DNAAF4, DNAAF4-CCPG1 (I395S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3065308	NM_130810.4(DNAAF4):c.3G>A (p.Met1Ile)	DNAAF4, DNAAF4-CCPG1 (M1I)	Single nucleotide variant (non-coding transcript variant +2 more)	Dyslexia, susceptibility to, 1	GLikely pathogenic
Select item 3046881	NM_130810.4(DNAAF4):c.783+5A>G	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (intron variant)	DNAAF4-related disorder	GLikely benign
Select item 3023646	NM_130810.4(DNAAF4):c.103T>C (p.Cys35Arg)	DNAAF4, DNAAF4-CCPG1 (C35R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3020321	NM_130810.4(DNAAF4):c.169A>G (p.Ile57Val)	DNAAF4, DNAAF4-CCPG1 (I57V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3016601	NM_130810.4(DNAAF4):c.563_567del (p.Ile188fs)	DNAAF4, DNAAF4-CCPG1 (I188fs)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2988181	NM_130810.4(DNAAF4):c.893+14_893+20del	DNAAF4, DNAAF4-CCPG1	Deletion (intron variant)	not provided	GLikely benign
Select item 2974738	NM_130810.4(DNAAF4):c.405+17C>A	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2918175	NM_130810.4(DNAAF4):c.755G>C (p.Arg252Pro)	DNAAF4, DNAAF4-CCPG1 (R252P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2916383	NM_130810.4(DNAAF4):c.586_590del (p.Ile195_Lys196insTer)	DNAAF4, DNAAF4-CCPG1	Microsatellite (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2915812	NM_130810.4(DNAAF4):c.124-13C>A	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2912800	NM_130810.4(DNAAF4):c.51C>T (p.Val17=)	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2908602	NM_130810.4(DNAAF4):c.272-6T>A	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2894120	NM_130810.4(DNAAF4):c.638-1G>A	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2886575	NM_130810.4(DNAAF4):c.430dup (p.Ile144fs)	DNAAF4, DNAAF4-CCPG1 (I144fs)	Duplication (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2886209	NM_130810.4(DNAAF4):c.1176A>G (p.Ala392=)	DNAAF4, DNAAF4-CCPG1 (H357R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 2880864	NM_130810.4(DNAAF4):c.598C>G (p.Leu200Val)	DNAAF4, DNAAF4-CCPG1 (L200V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2858444	NM_130810.4(DNAAF4):c.1048-18T>C	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2844494	NM_130810.4(DNAAF4):c.894-12T>G	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2843142	NM_130810.4(DNAAF4):c.771A>G (p.Ala257=)	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2842215	NM_130810.4(DNAAF4):c.271+12A>G	DNAAF4-CCPG1, DNAAF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2817773	NM_130810.4(DNAAF4):c.547C>T (p.Gln183Ter)	DNAAF4, DNAAF4-CCPG1 (Q183*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2809092	NM_130810.4(DNAAF4):c.191_195del (p.Ala64fs)	DNAAF4, DNAAF4-CCPG1 (A64fs)	Microsatellite (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2803899	NM_130810.4(DNAAF4):c.1153+18A>G	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2781708	NM_130810.4(DNAAF4):c.390A>G (p.Leu130=)	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2763909	NM_130810.4(DNAAF4):c.406-1G>A	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2762509	NM_130810.4(DNAAF4):c.438T>C (p.Asp146=)	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2739229	NM_130810.4(DNAAF4):c.1048-14A>G	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2735503	NM_130810.4(DNAAF4):c.1083T>C (p.Asn361=)	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2733790	NM_130810.4(DNAAF4):c.496dup (p.Gln166fs)	DNAAF4, DNAAF4-CCPG1 (Q166fs)	Duplication (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2733012	NM_130810.4(DNAAF4):c.894-24TCT[3]	DNAAF4, DNAAF4-CCPG1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2731138	NM_130810.4(DNAAF4):c.216C>A (p.Val72=)	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2730928	NM_130810.4(DNAAF4):c.623A>T (p.Asn208Ile)	DNAAF4, DNAAF4-CCPG1 (N208I)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2728267	NM_130810.4(DNAAF4):c.638-19G>T	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2727337	NM_130810.4(DNAAF4):c.120G>C (p.Leu40=)	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2724744	NM_130810.4(DNAAF4):c.1204G>A (p.Val402Ile)	DNAAF4, DNAAF4-CCPG1 (V402I)	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2723307	NM_130810.4(DNAAF4):c.66C>T (p.Pro22=)	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2716824	NM_130810.4(DNAAF4):c.174C>T (p.Asp58=)	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2711869	NM_130810.4(DNAAF4):c.894-10G>A	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2703771	NM_130810.4(DNAAF4):c.387A>G (p.Ala129=)	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2685517	GRCh37/hg19 15q21.3-22.2(chr15:54020810-62086530)x1	WDR72, ZNF280D +35 more	Copy number loss	not provided	GPathogenic
Select item 2685513	GRCh37/hg19 15q21.1-21.3(chr15:49390592-56800964)x1	TMOD2, USP50 +43 more	Copy number loss	not provided	GPathogenic
Select item 2645368	NM_130810.4(DNAAF4):c.-255-19_-255-10dup	DNAAF4	Duplication (intron variant)	not provided	GLikely benign
Select item 2645367	NM_130810.4(DNAAF4):c.302A>G (p.Glu101Gly)	DNAAF4, DNAAF4-CCPG1 (E101G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2645366	NM_001198784.2(PIERCE2):c.19-132G>A	DNAAF4, DNAAF4-CCPG1 +1 more (P364S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2637240	NM_130810.4(DNAAF4):c.1221G>C (p.Glu407Asp)	DNAAF4, DNAAF4-CCPG1 (E407D +1 more)	Single nucleotide variant (missense variant +1 more)	DNAAF4-related disorder	GUncertain significance
Select item 2620288	NM_130810.4(DNAAF4):c.368G>A (p.Arg123Gln)	DNAAF4, DNAAF4-CCPG1 (R123Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2618249	NM_130810.4(DNAAF4):c.469A>G (p.Lys157Glu)	DNAAF4, DNAAF4-CCPG1 (K157E)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2612178	NM_130810.4(DNAAF4):c.11A>G (p.Gln4Arg)	DNAAF4, DNAAF4-CCPG1 (Q4R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2609594	NM_130810.4(DNAAF4):c.340G>A (p.Ala114Thr)	DNAAF4, DNAAF4-CCPG1 (A114T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2575241	NM_130810.4(DNAAF4):c.390_393del (p.Ser131_Val132insTer)	DNAAF4, DNAAF4-CCPG1	Deletion (non-coding transcript variant +1 more)	Primary ciliary dyskinesia 25	GPathogenic
Select item 2538320	NM_130810.4(DNAAF4):c.23A>G (p.Tyr8Cys)	DNAAF4, DNAAF4-CCPG1 (Y8C)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2532165	NM_130810.4(DNAAF4):c.388C>A (p.Leu130Ile)	DNAAF4, DNAAF4-CCPG1 (L130I)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2500780	NM_130810.4(DNAAF4):c.784_893del (p.Trp262fs)	DNAAF4, DNAAF4-CCPG1 (W262fs)	Deletion (non-coding transcript variant +1 more)	Primary ciliary dyskinesia 25	GPathogenic
Select item 2492491	NM_130810.4(DNAAF4):c.571G>C (p.Glu191Gln)	DNAAF4, DNAAF4-CCPG1 (E191Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2440895	NM_130810.4(DNAAF4):c.59C>G (p.Ser20Cys)	DNAAF4, DNAAF4-CCPG1 (S20C)	Single nucleotide variant (non-coding transcript variant +1 more)	Primary ciliary dyskinesia 25	GUncertain significance
Select item 2427201	NC_000015.9:g.(?_55631445)_(55742585_?)dup	CCPG1, DNAAF4 +2 more	Duplication	not provided	GUncertain significance
Select item 2427200	NC_000015.9:g.(?_55722868)_(55724820_?)del	DNAAF4	Deletion	not provided	GPathogenic
Select item 2427199	NC_000015.9:g.(?_55783301)_(55790527_?)del	DNAAF4	Deletion	not provided	GPathogenic
Select item 2427198	NC_000015.9:g.(?_55789890)_(55790527_?)del	DNAAF4	Deletion	not provided	GPathogenic
Select item 2425233	NC_000015.9:g.(?_55497705)_(55790527_?)del	CCPG1, DNAAF4 +3 more	Deletion	not provided	GPathogenic
Select item 2425177	NC_000015.9:g.(?_55497705)_(55727276_?)dup	CCPG1, DNAAF4 +3 more	Duplication	Griscelli syndrome type 2	GUncertain significance
Select item 2417953	NM_130810.4(DNAAF4):c.694C>T (p.Pro232Ser)	DNAAF4, DNAAF4-CCPG1 (P232S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2415740	NM_130810.4(DNAAF4):c.908C>T (p.Thr303Met)	DNAAF4, DNAAF4-CCPG1 (T303M)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2413888	NM_130810.4(DNAAF4):c.135T>G (p.Pro45=)	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2196712	NM_130810.4(DNAAF4):c.1047+13A>G	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2194193	NM_130810.4(DNAAF4):c.243C>T (p.Ala81=)	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2174366	NM_130810.4(DNAAF4):c.255C>A (p.Thr85=)	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2173505	NM_130810.4(DNAAF4):c.64C>T (p.Pro22Ser)	DNAAF4, DNAAF4-CCPG1 (P22S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2167706	NM_130810.4(DNAAF4):c.1172C>T (p.Ala391Val)	DNAAF4, DNAAF4-CCPG1 (A391V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2158060	NM_130810.4(DNAAF4):c.345A>G (p.Thr115=)	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2153940	NM_130810.4(DNAAF4):c.885T>G (p.Asp295Glu)	DNAAF4, DNAAF4-CCPG1 (D295E)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2151338	NM_130810.4(DNAAF4):c.271+5G>A	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2150123	NM_130810.4(DNAAF4):c.372A>T (p.Glu124Asp)	DNAAF4, DNAAF4-CCPG1 (E124D)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2148855	NM_130810.4(DNAAF4):c.405+8G>A	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2110289	NM_130810.4(DNAAF4):c.784-7A>G	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2106741	NM_130810.4(DNAAF4):c.406-1G>C	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2097706	NM_130810.4(DNAAF4):c.495T>C (p.Tyr165=)	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2073846	NM_130810.4(DNAAF4):c.123+15C>G	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2073716	NM_130810.4(DNAAF4):c.405+18A>G	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2068851	NM_130810.4(DNAAF4):c.1190C>T (p.Pro397Leu)	DNAAF4, DNAAF4-CCPG1 (H362Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2060485	NM_130810.4(DNAAF4):c.48G>T (p.Ala16=)	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2050155	NM_130810.4(DNAAF4):c.272-7A>G	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2044423	NM_130810.4(DNAAF4):c.638-16A>C	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2038095	NM_130810.4(DNAAF4):c.491A>G (p.Glu164Gly)	DNAAF4, DNAAF4-CCPG1 (E164G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1995797	NM_130810.4(DNAAF4):c.638-9T>C	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1988934	NM_130810.4(DNAAF4):c.784-4C>G	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1940242	NM_130810.4(DNAAF4):c.936A>C (p.Ala312=)	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign

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