ClinVar for Gene (Select 144132) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366011	NM_144666.3(DNHD1):c.10050GCA[3] (p.Gln3352_Val3353insGln)	DNHD1	Microsatellite	not provided	GUncertain significance
Select item 3362192	NM_144666.3(DNHD1):c.13867dup (p.Gln4623fs)	DNHD1 (Q4623fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3353811	NM_144666.3(DNHD1):c.4603A>G (p.Met1535Val)	DNHD1 (M1535V)	Single nucleotide variant (missense variant)	DNHD1-related disorder	GUncertain significance
Select item 3350320	NM_144666.3(DNHD1):c.2758A>G (p.Ser920Gly)	DNHD1 (S920G)	Single nucleotide variant (missense variant)	DNHD1-related disorder	GUncertain significance
Select item 3343480	NM_144666.3(DNHD1):c.12393del (p.Trp4132fs)	DNHD1 (W4132fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3342969	NM_144666.3(DNHD1):c.1628_1631dup (p.Ala545fs)	DNHD1 (A545fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3342815	NM_144666.3(DNHD1):c.9802dup (p.Thr3268fs)	DNHD1 (T3268fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3342766	NM_144666.3(DNHD1):c.8643G>T (p.Arg2881Ser)	DNHD1 (R2881S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342731	NM_144666.3(DNHD1):c.3838C>G (p.Pro1280Ala)	DNHD1 (P1280A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342713	NM_144666.3(DNHD1):c.4744C>T (p.Arg1582Trp)	DNHD1 (R1582W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342712	NM_144666.3(DNHD1):c.13388_13404dup (p.Pro4469fs)	DNHD1 (P4469fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3342575	NM_144666.3(DNHD1):c.3661A>G (p.Ser1221Gly)	DNHD1 (S1221G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342549	NM_144666.3(DNHD1):c.13911+1G>T	DNHD1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3342539	NM_144666.3(DNHD1):c.11579T>A (p.Met3860Lys)	DNHD1 (M3860K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342538	NM_144666.3(DNHD1):c.8573T>A (p.Leu2858Ter)	DNHD1 (L2858*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3342468	NM_144666.3(DNHD1):c.10288C>A (p.Leu3430Met)	DNHD1 (L3430M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3273220	NM_144666.3(DNHD1):c.10373G>A (p.Arg3458Gln)	DNHD1 (R3458Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273219	NM_144666.3(DNHD1):c.8632G>T (p.Val2878Leu)	DNHD1 (V2878L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273218	NM_144666.3(DNHD1):c.3227G>A (p.Cys1076Tyr)	DNHD1 (C1076Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273217	NM_144666.3(DNHD1):c.6899C>T (p.Pro2300Leu)	DNHD1 (P2300L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273216	NM_144666.3(DNHD1):c.7233C>G (p.Ser2411Arg)	DNHD1 (S2411R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273215	NM_144666.3(DNHD1):c.3604G>C (p.Asp1202His)	DNHD1 (D1202H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273214	NM_144666.3(DNHD1):c.5798G>C (p.Cys1933Ser)	DNHD1 (C1933S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273212	NM_144666.3(DNHD1):c.438T>G (p.His146Gln)	DNHD1 (H146Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273211	NM_144666.3(DNHD1):c.11861G>T (p.Arg3954Ile)	DNHD1 (R3954I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273210	NM_144666.3(DNHD1):c.11122C>T (p.Arg3708Trp)	DNHD1 (R3708W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273209	NM_144666.3(DNHD1):c.1906G>A (p.Ala636Thr)	DNHD1 (A636T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273208	NM_144666.3(DNHD1):c.4876A>G (p.Ile1626Val)	DNHD1 (I1626V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273207	NM_144666.3(DNHD1):c.9452T>C (p.Ile3151Thr)	DNHD1 (I3151T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273206	NM_144666.3(DNHD1):c.8356T>C (p.Ser2786Pro)	DNHD1 (S2786P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273205	NM_144666.3(DNHD1):c.4412T>C (p.Leu1471Pro)	DNHD1 (L1471P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273204	NM_144666.3(DNHD1):c.9841G>A (p.Asp3281Asn)	DNHD1 (D3281N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273203	NM_144666.3(DNHD1):c.9044T>C (p.Leu3015Pro)	DNHD1 (L3015P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273201	NM_144666.3(DNHD1):c.6188G>T (p.Gly2063Val)	DNHD1 (G2063V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273200	NM_144666.3(DNHD1):c.9887A>C (p.Asp3296Ala)	DNHD1 (D3296A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273199	NM_144666.3(DNHD1):c.8259A>G (p.Ile2753Met)	DNHD1 (I2753M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273198	NM_144666.3(DNHD1):c.3949G>A (p.Glu1317Lys)	DNHD1 (E1317K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3273197	NM_144666.3(DNHD1):c.9608T>G (p.Ile3203Ser)	DNHD1 (I3203S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273196	NM_144666.3(DNHD1):c.13053G>C (p.Trp4351Cys)	DNHD1 (W4351C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273195	NM_144666.3(DNHD1):c.12145C>A (p.Pro4049Thr)	DNHD1 (P4049T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273194	NM_144666.3(DNHD1):c.497C>T (p.Pro166Leu)	DNHD1 (P166L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273193	NM_144666.3(DNHD1):c.7790T>A (p.Leu2597Gln)	DNHD1 (L2597Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273192	NM_144666.3(DNHD1):c.13325G>T (p.Arg4442Leu)	DNHD1 (R4442L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273190	NM_144666.3(DNHD1):c.5035G>C (p.Glu1679Gln)	DNHD1 (E1679Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273189	NM_144666.3(DNHD1):c.7682G>A (p.Arg2561Gln)	DNHD1 (R2561Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273188	NM_144666.3(DNHD1):c.11486T>C (p.Leu3829Pro)	DNHD1 (L3829P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273187	NM_144666.3(DNHD1):c.12518A>T (p.Glu4173Val)	DNHD1 (E4173V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273186	NM_144666.3(DNHD1):c.13478G>A (p.Ser4493Asn)	DNHD1 (S4493N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273185	NM_144666.3(DNHD1):c.5588G>A (p.Arg1863His)	DNHD1 (R1863H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273184	NM_144666.3(DNHD1):c.1398C>G (p.His466Gln)	DNHD1 (H466Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273183	NM_144666.3(DNHD1):c.5053G>A (p.Val1685Ile)	DNHD1 (V1685I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273182	NM_144666.3(DNHD1):c.11389C>T (p.Arg3797Trp)	DNHD1 (R3797W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273179	NM_144666.3(DNHD1):c.11549A>G (p.Tyr3850Cys)	DNHD1 (Y3850C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273178	NM_144666.3(DNHD1):c.4088G>T (p.Ser1363Ile)	DNHD1 (S1363I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273177	NM_144666.3(DNHD1):c.4049A>G (p.Tyr1350Cys)	DNHD1 (Y1350C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273176	NM_144666.3(DNHD1):c.11500G>C (p.Glu3834Gln)	DNHD1 (E3834Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273175	NM_144666.3(DNHD1):c.13241T>C (p.Leu4414Ser)	DNHD1 (L4414S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273174	NM_144666.3(DNHD1):c.10578C>A (p.Asn3526Lys)	DNHD1 (N3526K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273173	NM_144666.3(DNHD1):c.12196C>T (p.Arg4066Trp)	DNHD1 (R4066W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273172	NM_144666.3(DNHD1):c.5423G>A (p.Arg1808His)	DNHD1 (R1808H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273171	NM_144666.3(DNHD1):c.1166A>G (p.Gln389Arg)	DNHD1 (Q389R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3273170	NM_144666.3(DNHD1):c.11773G>T (p.Ala3925Ser)	DNHD1 (A3925S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273168	NM_144666.3(DNHD1):c.13217T>C (p.Leu4406Ser)	DNHD1 (L4406S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273167	NM_144666.3(DNHD1):c.13947A>T (p.Arg4649Ser)	DNHD1 (R4649S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273166	NM_144666.3(DNHD1):c.9590G>A (p.Arg3197Gln)	DNHD1 (R3197Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3273165	NM_144666.3(DNHD1):c.7592C>T (p.Thr2531Ile)	DNHD1 (T2531I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273164	NM_144666.3(DNHD1):c.13738G>A (p.Val4580Ile)	DNHD1 (V4580I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3273163	NM_144666.3(DNHD1):c.2002C>T (p.Arg668Trp)	DNHD1 (R668W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273162	NM_144666.3(DNHD1):c.3620T>C (p.Ile1207Thr)	DNHD1 (I1207T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273161	NM_144666.3(DNHD1):c.5839A>G (p.Met1947Val)	DNHD1 (M1947V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3253413	NM_144666.3(DNHD1):c.12832G>A (p.Gly4278Arg)	DNHD1 (G4278R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253298	NM_144666.3(DNHD1):c.13711_13716dup (p.Ala4572_Ser4573insAspAla)	DNHD1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 3253231	NM_144666.3(DNHD1):c.10934C>T (p.Thr3645Ile)	DNHD1 (T3645I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252457	NM_144666.3(DNHD1):c.9284C>T (p.Ser3095Leu)	DNHD1 (S3095L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252345	NM_144666.3(DNHD1):c.10320T>A (p.Asp3440Glu)	DNHD1 (D3440E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3239516	NM_144666.3(DNHD1):c.248A>G (p.Tyr83Cys)	DNHD1 (Y83C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3239025	NM_144666.3(DNHD1):c.5738G>A (p.Arg1913His)	DNHD1 (R1913H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234515	NM_144666.3(DNHD1):c.1041C>T (p.Thr347=)	DNHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234425	NM_144666.3(DNHD1):c.2897A>G (p.Asp966Gly)	DNHD1 (D966G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234280	NM_144666.3(DNHD1):c.6221C>G (p.Thr2074Arg)	DNHD1 (T2074R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3084762	NM_144666.3(DNHD1):c.9797A>G (p.His3266Arg)	DNHD1 (H3266R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3084761	NM_144666.3(DNHD1):c.9740G>C (p.Arg3247Pro)	DNHD1 (R3247P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084760	NM_144666.3(DNHD1):c.9650G>A (p.Arg3217Gln)	DNHD1 (R3217Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3084759	NM_144666.3(DNHD1):c.9629G>A (p.Arg3210Gln)	DNHD1 (R3210Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084758	NM_144666.3(DNHD1):c.9608T>A (p.Ile3203Asn)	DNHD1 (I3203N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084757	NM_144666.3(DNHD1):c.95A>G (p.Lys32Arg)	DNHD1 (K32R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084756	NM_144666.3(DNHD1):c.9553A>G (p.Ser3185Gly)	DNHD1 (S3185G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084755	NM_144666.3(DNHD1):c.9299A>G (p.His3100Arg)	DNHD1 (H3100R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084754	NM_144666.3(DNHD1):c.9106C>G (p.Leu3036Val)	DNHD1 (L3036V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084753	NM_144666.3(DNHD1):c.8932A>G (p.Ile2978Val)	DNHD1 (I2978V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084751	NM_144666.3(DNHD1):c.8686G>A (p.Gly2896Arg)	DNHD1 (G2896R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084750	NM_144666.3(DNHD1):c.8678T>C (p.Leu2893Pro)	DNHD1 (L2893P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084749	NM_144666.3(DNHD1):c.8648G>A (p.Arg2883Gln)	DNHD1 (R2883Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084748	NM_144666.3(DNHD1):c.8509T>C (p.Tyr2837His)	DNHD1 (Y2837H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084747	NM_144666.3(DNHD1):c.8279T>C (p.Met2760Thr)	DNHD1 (M2760T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3084746	NM_144666.3(DNHD1):c.8156A>T (p.Asp2719Val)	DNHD1 (D2719V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084745	NM_144666.3(DNHD1):c.8101G>C (p.Glu2701Gln)	DNHD1 (E2701Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084744	NM_144666.3(DNHD1):c.80G>A (p.Cys27Tyr)	DNHD1 (C27Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084743	NM_144666.3(DNHD1):c.7980C>G (p.Asp2660Glu)	DNHD1 (D2660E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084742	NM_144666.3(DNHD1):c.7941G>T (p.Trp2647Cys)	DNHD1 (W2647C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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