DNAH14[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 more	Copy number gain	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1325 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	ABCB10, ACBD3 +1167 more	Copy number gain	See cases	GPathogenic
Select item 147449	GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1	ACBD3, ACBD3-AS1 +287 more	Copy number loss	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	LOC129932646, LOC129932647 +967 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LOC129932948, LOC129932949 +954 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC129932666, LOC129932667 +954 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	LOC128772241, LOC128772242 +952 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	SCCPDH, SDCCAG8 +951 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932613, LOC129932614 +949 more	Copy number gain	See cases	GPathogenic
Select item 154238	GRCh38/hg38 1q42.12(chr1:224722478-225761035)x1	CNIH3, CNIH3-AS1 +31 more	Copy number loss	See cases	GUncertain significance
Select item 3033978	NM_001367479.1(DNAH14):c.55G>T (p.Glu19Ter)	DNAH14 (E19*)	Single nucleotide variant (nonsense)	DNAH14-related disorder	GLikely benign
Select item 2271261	NM_001367479.1(DNAH14):c.102A>T (p.Lys34Asn)	DNAH14 (K34N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1342594	NM_001367479.1(DNAH14):c.176_179del (p.Val59fs)	DNAH14 (V59fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2298394	NM_001367479.1(DNAH14):c.179G>C (p.Arg60Thr)	DNAH14 (R60T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392537	NM_001367479.1(DNAH14):c.197T>C (p.Leu66Ser)	DNAH14 (L66S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052480	NM_001367479.1(DNAH14):c.295A>G (p.Arg99Gly)	DNAH14 (R99G)	Single nucleotide variant (missense variant +1 more)	DNAH14-related disorder	GLikely benign
Select item 3083640	NM_001367479.1(DNAH14):c.341C>T (p.Ala114Val)	DNAH14 (A114V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349984	NM_001367479.1(DNAH14):c.356A>G (p.Tyr119Cys)	DNAH14 (Y119C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2497894	NM_001367479.1(DNAH14):c.368-1G>A	DNAH14	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2576886	NM_001367479.1(DNAH14):c.409C>T (p.Arg137Ter)	DNAH14 (R137* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2588656	NM_001367479.1(DNAH14):c.410G>A (p.Arg137Gln)	DNAH14 (R137Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639939	NM_001367479.1(DNAH14):c.440C>T (p.Pro147Leu)	DNAH14 (P147L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2454699	NM_001367479.1(DNAH14):c.460G>A (p.Gly154Arg)	DNAH14 (G154R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465411	NM_001367479.1(DNAH14):c.478A>G (p.Ile160Val)	DNAH14 (I160V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1174229	NM_001367479.1(DNAH14):c.499-19A>T	DNAH14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 402668	NM_001367479.1(DNAH14):c.502C>T (p.Pro168Ser)	DNAH14 (P168S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2577682	NM_001367479.1(DNAH14):c.610T>A (p.Cys204Ser)	DNAH14 (C154S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3083657	NM_001367479.1(DNAH14):c.649A>G (p.Lys217Glu)	DNAH14 (K167E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3056432	NM_001367479.1(DNAH14):c.651+1G>A	DNAH14	Single nucleotide variant (splice donor variant +1 more)	DNAH14-related disorder	GLikely benign
Select item 2311665	NM_001367479.1(DNAH14):c.658A>G (p.Asn220Asp)	DNAH14 (N197D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083658	NM_001367479.1(DNAH14):c.692T>C (p.Ile231Thr)	DNAH14 (I181T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639940	NM_001367479.1(DNAH14):c.749A>G (p.Lys250Arg)	DNAH14 (K200R +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2506624	NM_001367479.1(DNAH14):c.767G>A (p.Arg256Gln)	DNAH14 (R206Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2921250	NM_001367479.1(DNAH14):c.767+2T>C	DNAH14	Single nucleotide variant (stop lost +1 more)	not provided	GUncertain significance
Select item 2409758	NM_001367479.1(DNAH14):c.820G>A (p.Glu274Lys)	DNAH14 (E274K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2692532	NM_001367479.1(DNAH14):c.846_847delinsAT (p.His282_His283delinsGlnTyr)	DNAH14	Indel (missense variant)	not provided	GUncertain significance
Select item 2688956	NM_001367479.1(DNAH14):c.857T>A (p.Leu286Ter)	DNAH14 (L263* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2688954	NM_001367479.1(DNAH14):c.862dup (p.Asp288fs)	DNAH14 (D265fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2457823	NM_001367479.1(DNAH14):c.982A>G (p.Ser328Gly)	DNAH14 (S305G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639941	NM_001367479.1(DNAH14):c.1005T>C (p.Asp335=)	DNAH14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639942	NM_001367479.1(DNAH14):c.1258C>G (p.Arg420Gly)	DNAH14 (R397G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2360288	NM_001367479.1(DNAH14):c.1259G>A (p.Arg420His)	DNAH14 (R420H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266919	NM_001367479.1(DNAH14):c.1313C>A (p.Ala438Asp)	DNAH14 (A438D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489700	NM_001367479.1(DNAH14):c.1359A>T (p.Arg453Ser)	DNAH14 (R453S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229612	NM_001367479.1(DNAH14):c.1367A>G (p.Lys456Arg)	DNAH14 (K456R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083627	NM_001367479.1(DNAH14):c.1441A>C (p.Ile481Leu)	DNAH14 (I481L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402644	NM_001367479.1(DNAH14):c.1560C>T (p.Cys520=)	DNAH14	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 3083628	NM_001367479.1(DNAH14):c.1613A>C (p.His538Pro)	DNAH14 (H538P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459855	NM_001367479.1(DNAH14):c.1759A>G (p.Ile587Val)	DNAH14 (I587V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083629	NM_001367479.1(DNAH14):c.1760T>C (p.Ile587Thr)	DNAH14 (I587T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339305	NM_001367479.1(DNAH14):c.1844T>A (p.Ile615Lys)	DNAH14 (I615K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639943	NM_001367479.1(DNAH14):c.1867del (p.Ser623fs)	DNAH14 (S623fs)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 2345925	NM_001367479.1(DNAH14):c.1897A>G (p.Met633Val)	DNAH14 (M633V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083630	NM_001367479.1(DNAH14):c.1918A>G (p.Ile640Val)	DNAH14 (I640V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518577	NM_001367479.1(DNAH14):c.1925C>T (p.Pro642Leu)	DNAH14 (P642L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2663399	NM_001367479.1(DNAH14):c.1972A>T (p.Ile658Leu)	DNAH14 (I658L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2533969	NM_001367479.1(DNAH14):c.1972A>G (p.Ile658Val)	DNAH14 (I658V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396620	NM_001367479.1(DNAH14):c.2023A>C (p.Thr675Pro)	DNAH14 (T675P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3030715	NM_001367479.1(DNAH14):c.2028A>G (p.Arg676=)	DNAH14	Single nucleotide variant (synonymous variant)	DNAH14-related disorder	GLikely benign
Select item 2616278	NM_001367479.1(DNAH14):c.2095A>G (p.Thr699Ala)	DNAH14 (T699A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349654	NM_001367479.1(DNAH14):c.2098A>G (p.Ile700Val)	DNAH14 (I700V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049223	NM_001367479.1(DNAH14):c.2113A>G (p.Met705Val)	DNAH14 (M705V)	Single nucleotide variant (missense variant)	DNAH14-related disorder	GLikely benign
Select item 2514898	NM_001367479.1(DNAH14):c.2125A>C (p.Asn709His)	DNAH14 (N709H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1810689	NM_001367479.1(DNAH14):c.2200T>C (p.Ser734Pro)	DNAH14 (S734P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2399865	NM_001367479.1(DNAH14):c.2209G>A (p.Glu737Lys)	DNAH14 (E737K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210205	NM_001367479.1(DNAH14):c.2280G>A (p.Met760Ile)	DNAH14 (M760I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539707	NM_001367479.1(DNAH14):c.2347T>C (p.Tyr783His)	DNAH14 (Y783H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083631	NM_001367479.1(DNAH14):c.2348A>T (p.Tyr783Phe)	DNAH14 (Y783F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083632	NM_001367479.1(DNAH14):c.2354A>G (p.Asp785Gly)	DNAH14 (D785G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083633	NM_001367479.1(DNAH14):c.2357A>G (p.Asn786Ser)	DNAH14 (N786S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394359	NM_001367479.1(DNAH14):c.2459A>T (p.Asp820Val)	DNAH14 (D820V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402645	NM_001367479.1(DNAH14):c.2482C>G (p.Leu828Val)	DNAH14 (L828V)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2507595	NM_001367479.1(DNAH14):c.2527A>G (p.Lys843Glu)	DNAH14 (K843E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083634	NM_001367479.1(DNAH14):c.2627T>C (p.Leu876Pro)	DNAH14 (L876P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083635	NM_001367479.1(DNAH14):c.2652A>T (p.Lys884Asn)	DNAH14 (K884N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238102	NM_001367479.1(DNAH14):c.2660T>C (p.Met887Thr)	DNAH14 (M887T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550003	NM_001367479.1(DNAH14):c.2776C>T (p.Pro926Ser)	DNAH14 (P926S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243931	NM_001367479.1(DNAH14):c.2777C>T (p.Pro926Leu)	DNAH14 (P926L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402646	NM_001367479.1(DNAH14):c.2792C>A (p.Ala931Asp)	DNAH14 (A931D)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2208630	NM_001367479.1(DNAH14):c.2830A>T (p.Thr944Ser)	DNAH14 (T944S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1810643	NM_001367479.1(DNAH14):c.2836_2837del (p.Ser946fs)	DNAH14 (S946fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2662734	NM_001367479.1(DNAH14):c.2845G>A (p.Ala949Thr)	DNAH14 (A949T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2518944	NM_001367479.1(DNAH14):c.2869A>C (p.Lys957Gln)	DNAH14 (K957Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476364	NM_001367479.1(DNAH14):c.2870A>T (p.Lys957Ile)	DNAH14 (K957I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083636	NM_001367479.1(DNAH14):c.2975T>C (p.Ile992Thr)	DNAH14 (I992T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1338959	NM_001367479.1(DNAH14):c.2980G>A (p.Gly994Ser)	DNAH14 (G994S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3083637	NM_001367479.1(DNAH14):c.2990C>T (p.Thr997Ile)	DNAH14 (T997I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402647	NM_001367479.1(DNAH14):c.3029A>G (p.Lys1010Arg)	DNAH14 (K1010R)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 402648	NM_001367479.1(DNAH14):c.3032G>A (p.Arg1011Gln)	DNAH14 (R1011Q)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2253472	NM_001367479.1(DNAH14):c.3038C>G (p.Ser1013Cys)	DNAH14 (S1013C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369600	NM_001367479.1(DNAH14):c.3059C>A (p.Ser1020Tyr)	DNAH14 (S1020Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639944	NM_001367479.1(DNAH14):c.3113A>T (p.His1038Leu)	DNAH14 (H1038L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2492424	NM_001367479.1(DNAH14):c.3141A>C (p.Leu1047Phe)	DNAH14 (L1047F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305888	NM_001367479.1(DNAH14):c.3163C>T (p.His1055Tyr)	DNAH14 (H1055Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614459	NM_001367479.1(DNAH14):c.3184G>C (p.Glu1062Gln)	DNAH14 (E1062Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688955	NM_001367479.1(DNAH14):c.3248G>A (p.Trp1083Ter)	DNAH14 (W1083*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance

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