ClinVar for Gene (Select 201625) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3272654	NM_001366028.2(DNAH12):c.4471C>T (p.His1491Tyr)	DNAH12 (H1491Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272653	NM_001366028.2(DNAH12):c.2254C>T (p.Arg752Trp)	DNAH12 (R752W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272652	NM_001366028.2(DNAH12):c.5054C>T (p.Ser1685Phe)	DNAH12 (S1685F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272651	NM_001366028.2(DNAH12):c.4451A>T (p.Asn1484Ile)	DNAH12 (N1484I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272650	NM_001366028.2(DNAH12):c.9850C>T (p.His3284Tyr)	DNAH12 (H3284Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272649	NM_001366028.2(DNAH12):c.6356G>A (p.Arg2119His)	DNAH12 (R2119H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272648	NM_001366028.2(DNAH12):c.4391A>G (p.Lys1464Arg)	DNAH12 (K1464R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272647	NM_001366028.2(DNAH12):c.1817T>C (p.Met606Thr)	DNAH12 (M606T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272646	NM_001366028.2(DNAH12):c.1321G>A (p.Asp441Asn)	DNAH12 (D441N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272645	NM_001366028.2(DNAH12):c.5428G>T (p.Gly1810Cys)	DNAH12 (G1810C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272644	NM_001366028.2(DNAH12):c.1723A>G (p.Thr575Ala)	DNAH12 (T575A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3272643	NM_001366028.2(DNAH12):c.1862G>A (p.Arg621His)	DNAH12 (R621H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272642	NM_001366028.2(DNAH12):c.4321T>A (p.Ser1441Thr)	DNAH12 (S1441T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272641	NM_001366028.2(DNAH12):c.9692A>G (p.Glu3231Gly)	DNAH12 (E3231G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272640	NM_001366028.2(DNAH12):c.3005T>C (p.Met1002Thr)	DNAH12 (M1002T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272639	NM_001366028.2(DNAH12):c.3313G>A (p.Asp1105Asn)	DNAH12 (D1105N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272638	NM_001366028.2(DNAH12):c.2558T>C (p.Met853Thr)	DNAH12 (M853T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272637	NM_001366028.2(DNAH12):c.6520C>A (p.His2174Asn)	DNAH12 (H2174N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272636	NM_001366028.2(DNAH12):c.3528G>T (p.Leu1176Phe)	DNAH12 (L1176F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272635	NM_001366028.2(DNAH12):c.4196T>C (p.Val1399Ala)	DNAH12 (V1399A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272634	NM_001366028.2(DNAH12):c.1298T>C (p.Phe433Ser)	DNAH12 (F433S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272633	NM_001366028.2(DNAH12):c.9614G>A (p.Arg3205Gln)	DNAH12 (R3205Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3257629	NM_001366028.2(DNAH12):c.5740G>A (p.Gly1914Ser)	DNAH12 (G1914S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3083600	NM_001366028.2(DNAH12):c.11845A>G (p.Lys3949Glu)	DNAH12 (K3949E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083599	NM_001366028.2(DNAH12):c.11830A>G (p.Thr3944Ala)	DNAH12 (T3944A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083598	NM_001366028.2(DNAH12):c.11705G>A (p.Arg3902Gln)	DNAH12 (R3902Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3083597	NM_001366028.2(DNAH12):c.11507T>C (p.Ile3836Thr)	DNAH12 (I3836T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083596	NM_001366028.2(DNAH12):c.11506A>G (p.Ile3836Val)	DNAH12 (I3836V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083595	NM_001366028.2(DNAH12):c.874G>A (p.Val292Ile)	DNAH12 (V292I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083594	NM_001366028.2(DNAH12):c.11248G>A (p.Val3750Ile)	DNAH12 (V3750I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083593	NM_001366028.2(DNAH12):c.11183T>C (p.Phe3728Ser)	DNAH12 (F3728S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083592	NM_001366028.2(DNAH12):c.11120G>A (p.Arg3707Gln)	DNAH12 (R3707Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3083591	NM_001366028.2(DNAH12):c.10762C>T (p.Arg3588Cys)	DNAH12 (R3588C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083590	NM_001366028.2(DNAH12):c.10481T>G (p.Val3494Gly)	DNAH12 (V3494G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083589	NM_001366028.2(DNAH12):c.10436C>T (p.Thr3479Met)	DNAH12 (T3479M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083588	NM_001366028.2(DNAH12):c.10409G>C (p.Gly3470Ala)	DNAH12 (G3470A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083587	NM_001366028.2(DNAH12):c.10372C>T (p.Pro3458Ser)	DNAH12 (P3458S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083586	NM_001366028.2(DNAH12):c.10254G>T (p.Trp3418Cys)	DNAH12 (W3418C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083585	NM_001366028.2(DNAH12):c.10247G>A (p.Gly3416Glu)	DNAH12 (G3416E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083584	NM_001366028.2(DNAH12):c.9988G>A (p.Ala3330Thr)	DNAH12 (A3330T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083583	NM_001366028.2(DNAH12):c.9857A>G (p.Tyr3286Cys)	DNAH12 (Y3286C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083582	NM_001366028.2(DNAH12):c.70G>T (p.Val24Phe)	DNAH12 (V24F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083581	NM_001366028.2(DNAH12):c.9679A>G (p.Arg3227Gly)	DNAH12 (R3227G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083580	NM_001366028.2(DNAH12):c.9642A>T (p.Leu3214Phe)	DNAH12 (L3214F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083579	NM_001366028.2(DNAH12):c.9626A>G (p.Glu3209Gly)	DNAH12 (E3209G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083578	NM_001366028.2(DNAH12):c.9598T>C (p.Tyr3200His)	DNAH12 (Y3200H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083577	NM_001366028.2(DNAH12):c.9568T>C (p.Tyr3190His)	DNAH12 (Y3190H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083576	NM_001366028.2(DNAH12):c.6911A>G (p.Lys2304Arg)	DNAH12 (K2304R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083575	NM_001366028.2(DNAH12):c.673A>G (p.Thr225Ala)	DNAH12 (T225A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083574	NM_001366028.2(DNAH12):c.646G>A (p.Asp216Asn)	DNAH12 (D216N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083573	NM_001366028.2(DNAH12):c.6523T>G (p.Phe2175Val)	DNAH12 (F2175V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083572	NM_001366028.2(DNAH12):c.6418C>T (p.Arg2140Cys)	DNAH12 (R2140C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083571	NM_001366028.2(DNAH12):c.6364C>T (p.Arg2122Trp)	DNAH12 (R2122W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083570	NM_001366028.2(DNAH12):c.6176T>C (p.Val2059Ala)	DNAH12 (V2059A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083569	NM_001366028.2(DNAH12):c.5839G>A (p.Ala1947Thr)	DNAH12 (A1947T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083568	NM_001366028.2(DNAH12):c.5585T>C (p.Val1862Ala)	DNAH12 (V1862A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083567	NM_001366028.2(DNAH12):c.5477A>T (p.Asp1826Val)	DNAH12 (D1826V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083566	NM_001366028.2(DNAH12):c.538C>T (p.Pro180Ser)	DNAH12 (P180S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083565	NM_001366028.2(DNAH12):c.5216T>C (p.Ile1739Thr)	DNAH12 (I1739T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083564	NM_001366028.2(DNAH12):c.5044A>G (p.Met1682Val)	DNAH12 (M1682V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083563	NM_001366028.2(DNAH12):c.5029C>T (p.Leu1677Phe)	DNAH12 (L1677F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083562	NM_001366028.2(DNAH12):c.4951A>G (p.Met1651Val)	DNAH12 (M1651V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083561	NM_001366028.2(DNAH12):c.4761G>T (p.Lys1587Asn)	DNAH12 (K1587N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083560	NM_001366028.2(DNAH12):c.4712C>T (p.Ala1571Val)	DNAH12 (A1571V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083559	NM_001366028.2(DNAH12):c.4433G>A (p.Arg1478Gln)	DNAH12 (R1478Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083558	NM_001366028.2(DNAH12):c.4339G>C (p.Asp1447His)	DNAH12 (D1447H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083556	NM_001366028.2(DNAH12):c.4109C>T (p.Pro1370Leu)	DNAH12 (P1370L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083555	NM_001366028.2(DNAH12):c.3955G>T (p.Ala1319Ser)	DNAH12 (A1319S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083554	NM_001366028.2(DNAH12):c.3946A>G (p.Lys1316Glu)	DNAH12 (K1316E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083553	NM_001366028.2(DNAH12):c.3910G>A (p.Asp1304Asn)	DNAH12 (D1304N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083552	NM_001366028.2(DNAH12):c.3688C>T (p.Arg1230Cys)	DNAH12 (R1230C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083551	NM_001366028.2(DNAH12):c.3370C>G (p.Arg1124Gly)	DNAH12 (R1124G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083550	NM_001366028.2(DNAH12):c.3301C>T (p.Arg1101Trp)	DNAH12 (R1101W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083549	NM_001366028.2(DNAH12):c.3254G>T (p.Arg1085Leu)	DNAH12 (R1085L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083548	NM_001366028.2(DNAH12):c.3037C>T (p.Arg1013Cys)	DNAH12 (R1013C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083547	NM_001366028.2(DNAH12):c.2932G>T (p.Val978Phe)	DNAH12 (V978F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083546	NM_001366028.2(DNAH12):c.2759G>A (p.Arg920Gln)	DNAH12 (R920Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083545	NM_001366028.2(DNAH12):c.2609A>G (p.Tyr870Cys)	DNAH12 (Y870C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083544	NM_001366028.2(DNAH12):c.2599A>G (p.Ile867Val)	DNAH12 (I867V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083543	NM_001366028.2(DNAH12):c.2524G>A (p.Gly842Ser)	DNAH12 (G842S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083542	NM_001366028.2(DNAH12):c.2518A>G (p.Ser840Gly)	DNAH12 (S840G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083541	NM_001366028.2(DNAH12):c.229C>T (p.Pro77Ser)	DNAH12 (P77S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083540	NM_001366028.2(DNAH12):c.2215A>C (p.Lys739Gln)	DNAH12 (K739Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083539	NM_001366028.2(DNAH12):c.2104C>T (p.Arg702Trp)	DNAH12 (R702W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083538	NM_001366028.2(DNAH12):c.2093G>A (p.Arg698Gln)	DNAH12 (R698Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083537	NM_001366028.2(DNAH12):c.1865G>A (p.Arg622His)	DNAH12 (R622H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083536	NM_001366028.2(DNAH12):c.181G>T (p.Ala61Ser)	DNAH12 (A61S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083535	NM_001366028.2(DNAH12):c.161A>C (p.Asn54Thr)	DNAH12 (N54T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083533	NM_001366028.2(DNAH12):c.1409G>A (p.Arg470His)	DNAH12 (R470H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083532	NM_001366028.2(DNAH12):c.1277C>T (p.Ala426Val)	DNAH12 (A426V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083531	NM_001366028.2(DNAH12):c.1246G>A (p.Glu416Lys)	DNAH12 (E416K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083530	NM_001366028.2(DNAH12):c.1016T>C (p.Phe339Ser)	DNAH12 (F339S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083529	NM_001366028.2(DNAH12):c.1003G>A (p.Asp335Asn)	DNAH12 (D335N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062735	GRCh37/hg19 3p14.3(chr3:57186580-57384870)x1	APPL1, ASB14 +3 more	Copy number loss	not specified	GUncertain significance
Select item 3062680	GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1	ABHD14A, ABHD14B +86 more	Copy number loss	not specified	GPathogenic
Select item 3024929	NM_001366028.2(DNAH12):c.10836C>T (p.Pro3612=)	DNAH12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685080	GRCh37/hg19 3p14.3(chr3:56258725-57386154)x1	APPL1, ARHGEF3 +8 more	Copy number loss	not provided	GUncertain significance
Select item 2653912	NM_001366028.2(DNAH12):c.2751C>G (p.Arg917=)	DNAH12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622103	NM_001366028.2(DNAH12):c.4732A>C (p.Asn1578His)	DNAH12 (N1578H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620496	NM_001366028.2(DNAH12):c.3514G>A (p.Val1172Ile)	DNAH12 (V1172I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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