DNAAF4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	ADAM10, ALDH1A2 +287 more	Copy number loss	See cases	GPathogenic
Select item 147481	GRCh38/hg38 15q21.2-21.3(chr15:51276690-57088386)x1	ARPP19, ATOSA +176 more	Copy number loss	See cases	GPathogenic
Select item 17824	NC_000015.10:g.(51338597_?)_(?_57376504)inv	LOC105370829, LOC108281154 +179 more	Inversion	Aromatase excess syndrome	GPathogenic
Select item 151013	GRCh38/hg38 15q21.3(chr15:54998301-55749136)x3	CCPG1, DNAAF4 +28 more	Copy number gain	See cases	GUncertain significance
Select item 58571	GRCh38/hg38 15q21.3(chr15:55279032-55622007)x3	CCPG1, DNAAF4 +23 more	Copy number gain	See cases	GPathogenic
Select item 2645366	NM_001033560.2(DNAAF4):c.1090C>T (p.Pro364Ser)	DNAAF4, DNAAF4-CCPG1 +1 more (P364S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 916127	NM_130810.3(DNAAF4):c.1048-149_*1048del	DNAAF4, DNAAF4-CCPG1	Deletion (intron variant)	Primary ciliary dyskinesia	GPathogenic
Select item 525588	NC_000015.10:g.(?_55430650)_(55432622_?)del	DNAAF4, DNAAF4-CCPG1	Deletion	Primary ciliary dyskinesia	GPathogenic
Select item 646956	NC_000015.10:g.(?_55430664)_(55432608_?)del	DNAAF4, DNAAF4-CCPG1	Deletion	not provided	GPathogenic
Select item 262314	NM_130810.4(DNAAF4):c.1259C>G (p.Ser420Cys)	DNAAF4, DNAAF4-CCPG1 (S420C)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GBenign
Select item 2136	NM_130810.4(DNAAF4):c.1249G>T (p.Glu417Ter)	DNAAF4, DNAAF4-CCPG1 (E417*)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GBenign
Select item 1082173	NM_130810.4(DNAAF4):c.1248A>G (p.Thr416=)	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 410958	NM_130810.4(DNAAF4):c.1241A>C (p.Gln414Pro)	DNAAF4, DNAAF4-CCPG1 (Q414P)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +3 more	GUncertain significance
Select item 1044412	NM_130810.4(DNAAF4):c.1229G>T (p.Arg410Leu)	DNAAF4, DNAAF4-CCPG1 (G375* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
Select item 1912622	NM_130810.4(DNAAF4):c.1227T>A (p.Ile409=)	DNAAF4, DNAAF4-CCPG1 (F374Y)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 410962	NM_130810.4(DNAAF4):c.1225A>T (p.Ile409Phe)	DNAAF4, DNAAF4-CCPG1 (I409F +1 more)	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 454959	NM_130810.4(DNAAF4):c.1216G>C (p.Ala406Pro)	DNAAF4, DNAAF4-CCPG1 (A406P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 3272526	NM_130810.4(DNAAF4):c.1205T>C (p.Val402Ala)	DNAAF4, DNAAF4-CCPG1 (Y367H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 1018752	NM_130810.4(DNAAF4):c.1200A>T (p.Lys400Asn)	DNAAF4, DNAAF4-CCPG1 (K365I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1395039	NM_130810.4(DNAAF4):c.1199A>G (p.Lys400Arg)	DNAAF4, DNAAF4-CCPG1 (K365E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 858060	NM_130810.4(DNAAF4):c.1196A>G (p.Asn399Ser)	DNAAF4, DNAAF4-CCPG1 (N399S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1540572	NM_130810.4(DNAAF4):c.1191A>G (p.Pro397=)	DNAAF4, DNAAF4-CCPG1 (H362R)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2068851	NM_130810.4(DNAAF4):c.1190C>T (p.Pro397Leu)	DNAAF4-CCPG1, DNAAF4 (H362Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 960625	NM_130810.4(DNAAF4):c.1177C>T (p.Leu393Phe)	DNAAF4, DNAAF4-CCPG1 (L393F)	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2886209	NM_130810.4(DNAAF4):c.1176A>G (p.Ala392=)	DNAAF4, DNAAF4-CCPG1 (H357R)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely benign
Select item 762730	NM_130810.4(DNAAF4):c.1173G>A (p.Ala391=)	DNAAF4, DNAAF4-CCPG1 (R356Q)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
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)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1695681	NM_130810.4(DNAAF4):c.1165T>C (p.Tyr389His)	DNAAF4, DNAAF4-CCPG1 (Y389H)	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 1528086	NM_130810.4(DNAAF4):c.1154-12A>G	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279671	NM_130810.4(DNAAF4):c.1154-174C>G	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216841	NM_130810.4(DNAAF4):c.1153+242A>G	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 3357933	NM_130810.4(DNAAF4):c.1153+2_1153+5del	DNAAF4, DNAAF4-CCPG1	Deletion (intron variant +1 more)	DNAAF4-related disorder	GUncertain significance
Select item 1342101	NM_130810.4(DNAAF4):c.1153+1G>A	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (intron variant +1 more)	not provided	GPathogenic
Select item 1907221	NM_130810.4(DNAAF4):c.1148T>C (p.Val383Ala)	DNAAF4, DNAAF4-CCPG1 (V383A)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1377582	NM_130810.4(DNAAF4):c.1143G>T (p.Leu381Phe)	DNAAF4, DNAAF4-CCPG1 (L381F)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1305804	NM_130810.4(DNAAF4):c.1121C>T (p.Thr374Ile)	DNAAF4, DNAAF4-CCPG1 (T374I)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 454958	NM_130810.4(DNAAF4):c.1118G>A (p.Gly373Glu)	DNAAF4, DNAAF4-CCPG1 (G373E)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1306326	NM_130810.4(DNAAF4):c.1115G>A (p.Arg372His)	DNAAF4, DNAAF4-CCPG1 (R372H)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 967529	NM_130810.4(DNAAF4):c.1111C>G (p.Arg371Gly)	DNAAF4, DNAAF4-CCPG1 (R371G)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 915323	NM_130810.4(DNAAF4):c.1111C>T (p.Arg371Ter)	DNAAF4, DNAAF4-CCPG1 (R371*)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GPathogenic
Select item 454957	NM_130810.4(DNAAF4):c.1096A>G (p.Met366Val)	DNAAF4, DNAAF4-CCPG1 (M366V)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1474343	NM_130810.4(DNAAF4):c.1094G>A (p.Arg365Lys)	DNAAF4, DNAAF4-CCPG1 (R365K)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
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 651131	NM_130810.4(DNAAF4):c.1073T>C (p.Val358Ala)	DNAAF4, DNAAF4-CCPG1 (V358A)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 703127	NM_130810.4(DNAAF4):c.1068A>C (p.Pro356=)	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 838109	NM_130810.4(DNAAF4):c.1048-9T>C	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 2858444	NM_130810.4(DNAAF4):c.1048-18T>C	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1277038	NM_130810.4(DNAAF4):c.1048-53G>A	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288343	NM_130810.4(DNAAF4):c.1048-190dup	DNAAF4, DNAAF4-CCPG1	Duplication (intron variant)	not provided	GBenign
Select item 1283075	NM_130810.4(DNAAF4):c.1048-297C>T	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203609	NM_130810.4(DNAAF4):c.1047+135dup	DNAAF4, DNAAF4-CCPG1	Duplication (intron variant)	not provided	GLikely benign
Select item 1246891	NM_130810.4(DNAAF4):c.1047+87A>C	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296777	NM_130810.4(DNAAF4):c.1047+30C>T	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (intron variant)	not provided	GBenign
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 280613	NM_130810.4(DNAAF4):c.1047+1G>A	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic/Likely pathogenic
Select item 1071102	NM_130810.4(DNAAF4):c.1042_1043insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACTGCAACCTCTGCCTCCCAGGTTGAAGCGATTTTCCTGCCTCAGCCTCAGCCTCCTGAGTAGCTGGGCTGAAGATTCTT (p.Ser348delinsPhePhePhePhePhePhePheXaaXaaXaaXaaCysAsnLeuCysLeuProGlyTer)	DNAAF4, DNAAF4-CCPG1	Insertion (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 1646392	NM_130810.4(DNAAF4):c.1026G>A (p.Lys342=)	DNAAF4-CCPG1, DNAAF4	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1083630	NM_130810.4(DNAAF4):c.1011A>G (p.Leu337=)	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 763717	NM_130810.4(DNAAF4):c.990G>A (p.Arg330=)	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1378331	NM_130810.4(DNAAF4):c.989G>A (p.Arg330Gln)	DNAAF4, DNAAF4-CCPG1 (R330Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 956594	NM_130810.4(DNAAF4):c.988C>T (p.Arg330Trp)	DNAAF4, DNAAF4-CCPG1 (R330W)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
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
Select item 643553	NM_130810.4(DNAAF4):c.934del (p.Ala312fs)	DNAAF4, DNAAF4-CCPG1 (A312fs)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 727650	NM_130810.4(DNAAF4):c.930C>A (p.Ile310=)	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 1009482	NM_130810.4(DNAAF4):c.909G>A (p.Thr303=)	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2415740	NM_130810.4(DNAAF4):c.908C>T (p.Thr303Met)	DNAAF4, DNAAF4-CCPG1 (T303M)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 410965	NM_130810.4(DNAAF4):c.896A>G (p.Lys299Arg)	DNAAF4, DNAAF4-CCPG1 (K299R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 660419	NM_130810.4(DNAAF4):c.894-3T>G	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 2844494	NM_130810.4(DNAAF4):c.894-12T>G	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2733012	NM_130810.4(DNAAF4):c.894-24TCT[3]	DNAAF4, DNAAF4-CCPG1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1274460	NM_130810.4(DNAAF4):c.894-231del	DNAAF4, DNAAF4-CCPG1	Deletion (intron variant)	not provided	GBenign
Select item 916125	NM_130810.4(DNAAF4):c.784-1037_894-2012del	DNAAF4, DNAAF4-CCPG1	Deletion (splice acceptor variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 1198536	NM_130810.4(DNAAF4):c.893+278C>T	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1226025	NM_130810.4(DNAAF4):c.893+110C>T	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2988181	NM_130810.4(DNAAF4):c.893+14_893+20del	DNAAF4, DNAAF4-CCPG1	Deletion (intron variant)	not provided	GLikely benign
Select item 241834	NM_130810.4(DNAAF4):c.893+5G>A	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (intron variant)	not provided	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 254083	NM_130810.3(DNAAF4):c.784-?_893+?del	DNAAF4, DNAAF4-CCPG1	Deletion	Primary ciliary dyskinesia	GPathogenic
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 410960	NM_130810.4(DNAAF4):c.881A>T (p.Lys294Met)	DNAAF4, DNAAF4-CCPG1 (K294M)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 855808	NM_130810.4(DNAAF4):c.868C>T (p.Pro290Ser)	DNAAF4, DNAAF4-CCPG1 (P290S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 410959	NM_130810.4(DNAAF4):c.862A>G (p.Lys288Glu)	DNAAF4, DNAAF4-CCPG1 (K288E)	Single nucleotide variant (non-coding transcript variant +1 more)	DNAAF4-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1062748	NM_130810.4(DNAAF4):c.853GAA[2] (p.Glu287del)	DNAAF4, DNAAF4-CCPG1 (E287del)	Microsatellite (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 525280	NM_130810.4(DNAAF4):c.858A>T (p.Glu286Asp)	DNAAF4, DNAAF4-CCPG1 (E286D)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 916126	NM_130810.4(DNAAF4):c.856G>T (p.Glu286Ter)	DNAAF4, DNAAF4-CCPG1 (E286*)	Single nucleotide variant (non-coding transcript variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 964667	NM_130810.4(DNAAF4):c.829A>G (p.Ile277Val)	DNAAF4, DNAAF4-CCPG1 (I277V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 1139919	NM_130810.4(DNAAF4):c.825T>C (p.Thr275=)	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 581801	NM_130810.4(DNAAF4):c.814G>A (p.Ala272Thr)	DNAAF4, DNAAF4-CCPG1 (A272T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 68448	NM_130810.4(DNAAF4):c.808C>T (p.Arg270Ter)	DNAAF4, DNAAF4-CCPG1 (R270*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 410961	NM_130810.4(DNAAF4):c.791A>G (p.His264Arg)	DNAAF4, DNAAF4-CCPG1 (H264R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1372771	NM_130810.4(DNAAF4):c.784T>G (p.Trp262Gly)	DNAAF4, DNAAF4-CCPG1 (W262G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1988934	NM_130810.4(DNAAF4):c.784-4C>G	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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