ClinVar for Gene (Select 84062) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369526	NM_032122.5(DTNBP1):c.811+34G>C	DTNBP1 (G282A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3348274	NM_032122.5(DTNBP1):c.489-4A>C	DTNBP1	Single nucleotide variant (intron variant)	DTNBP1-related disorder	GLikely benign
Select item 3347607	NM_032122.5(DTNBP1):c.390del (p.Asn130fs)	DTNBP1 (N113fs +3 more)	Deletion (frameshift variant +1 more)	DTNBP1-related disorder	GLikely pathogenic
Select item 3273956	NM_032122.5(DTNBP1):c.52T>C (p.Ser18Pro)	DTNBP1, LOC129995888 (S18P)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3273954	NM_032122.5(DTNBP1):c.623A>G (p.Glu208Gly)	DTNBP1 (E127G +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3086089	NM_032122.5(DTNBP1):c.347C>G (p.Ala116Gly)	DTNBP1 (A116G +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3062894	GRCh37/hg19 6p24.1-22.3(chr6:12872219-17276508)x1	ATXN1, CD83 +13 more	Copy number loss	not specified	GPathogenic
Select item 3012809	NM_032122.5(DTNBP1):c.519A>G (p.Leu173=)	DTNBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3007354	NM_032122.5(DTNBP1):c.356-8A>C	DTNBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001176	NM_032122.5(DTNBP1):c.56+13T>G	DTNBP1, LOC129995888	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000294	NM_032122.5(DTNBP1):c.1044C>T (p.Asp348=)	DTNBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999313	NM_032122.5(DTNBP1):c.543C>T (p.Val181=)	DTNBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2997088	NM_032122.5(DTNBP1):c.759C>T (p.Asp253=)	DTNBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2983805	NM_032122.5(DTNBP1):c.161+10T>C	DTNBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982129	NM_032122.5(DTNBP1):c.512-14T>C	DTNBP1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2977007	NM_032122.5(DTNBP1):c.161+7G>A	DTNBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964728	NM_032122.5(DTNBP1):c.1006C>T (p.His336Tyr)	DTNBP1 (H336Y +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956001	NM_032122.5(DTNBP1):c.223-19C>G	DTNBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2909388	NM_032122.5(DTNBP1):c.162-3dup	DTNBP1	Duplication (intron variant)	not provided	GBenign
Select item 2901718	NM_032122.5(DTNBP1):c.921C>G (p.Thr307=)	DTNBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894575	NM_032122.5(DTNBP1):c.546G>C (p.Leu182=)	DTNBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2879076	NM_032122.5(DTNBP1):c.583C>A (p.Arg195=)	DTNBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2878458	NM_032122.5(DTNBP1):c.963C>T (p.Ser321=)	DTNBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867698	NM_032122.5(DTNBP1):c.488+10A>G	DTNBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2850723	NM_032122.5(DTNBP1):c.627G>A (p.Gln209=)	DTNBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2824294	NM_032122.5(DTNBP1):c.1034G>A (p.Gly345Asp)	DTNBP1 (G264D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2812967	NM_032122.5(DTNBP1):c.19_20delinsTT (p.Glu7Leu)	DTNBP1, LOC129995888 (E7L)	Indel (missense variant +2 more)	not provided	GUncertain significance
Select item 2810088	NM_032122.5(DTNBP1):c.705G>A (p.Val235=)	DTNBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2806919	NM_032122.5(DTNBP1):c.488+7T>G	DTNBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2791836	NM_032122.5(DTNBP1):c.126G>A (p.Leu42=)	DTNBP1	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 2787178	NM_032122.5(DTNBP1):c.667+7G>C	DTNBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2779141	NM_032122.5(DTNBP1):c.512-12_512-11del	DTNBP1	Deletion (intron variant)	not provided	GLikely benign
Select item 2776531	NM_032122.5(DTNBP1):c.223-17CTT[3]	DTNBP1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2754258	NM_032122.5(DTNBP1):c.240G>A (p.Val80=)	DTNBP1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2708198	NM_032122.5(DTNBP1):c.667+11G>A	DTNBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2702268	NC_000006.12:g.15593076TCCT[1]	DTNBP1	Microsatellite	not provided	GPathogenic
Select item 2693256	NM_032122.5(DTNBP1):c.668-18G>C	DTNBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2691648	NM_032122.5(DTNBP1):c.811+70G>A	DTNBP1 (R294H)	Single nucleotide variant (intron variant +2 more)	not specified	GBenign
Select item 2634805	NM_032122.5(DTNBP1):c.1011_1014dup (p.Arg339Ter)	DTNBP1 (R258* +3 more)	Duplication (nonsense +1 more)	DTNBP1-related disorder	GLikely pathogenic
Select item 2629061	NM_032122.5(DTNBP1):c.664C>T (p.Arg222Ter)	DTNBP1 (R141* +3 more)	Single nucleotide variant (nonsense +1 more)	DTNBP1-related disorder	GLikely pathogenic
Select item 2622964	NM_032122.5(DTNBP1):c.329A>G (p.Asp110Gly)	DTNBP1 (D29G +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2574711	NM_032122.5(DTNBP1):c.920C>T (p.Thr307Ile)	DTNBP1 (T226I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2554052	NM_032122.5(DTNBP1):c.922C>G (p.Arg308Gly)	DTNBP1 (R227G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521260	NM_032122.5(DTNBP1):c.749A>G (p.Glu250Gly)	DTNBP1 (E169G +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2500235	NM_032122.5(DTNBP1):c.111-2A>G	DTNBP1	Single nucleotide variant (5 prime UTR variant +2 more)	Hermansky-Pudlak syndrome 7	GUncertain significance
Select item 2491187	NM_032122.5(DTNBP1):c.38A>G (p.Gln13Arg)	DTNBP1, LOC129995888 (Q13R)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2489701	NM_032122.5(DTNBP1):c.450G>C (p.Met150Ile)	DTNBP1 (M115I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2477407	NM_032122.5(DTNBP1):c.910G>A (p.Asp304Asn)	DTNBP1 (D223N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2427024	NC_000006.11:g.(?_15523206)_(15524920_?)del	DTNBP1	Deletion	not provided	GUncertain significance
Select item 2427023	NC_000006.11:g.(?_15637955)_(15638055_?)del	DTNBP1	Deletion	not provided	GPathogenic
Select item 2427022	NC_000006.11:g.(?_15523206)_(16146982_?)del	DTNBP1, MYLIP	Deletion	not provided	GPathogenic
Select item 2421243	NM_032122.5(DTNBP1):c.101G>A (p.Ser34Asn)	DTNBP1 (S34N)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2414184	NM_032122.5(DTNBP1):c.148G>C (p.Glu50Gln)	DTNBP1 (E50Q)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2398561	NM_032122.5(DTNBP1):c.358C>T (p.His120Tyr)	DTNBP1 (H103Y +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2306565	NM_032122.5(DTNBP1):c.446A>G (p.His149Arg)	DTNBP1 (H114R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2293225	NM_032122.5(DTNBP1):c.79T>G (p.Ser27Ala)	DTNBP1 (S27A)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2286868	NM_032122.5(DTNBP1):c.844A>G (p.Thr282Ala)	DTNBP1 (T201A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271581	NM_032122.5(DTNBP1):c.550A>G (p.Met184Val)	DTNBP1 (M167V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2219454	NM_032122.5(DTNBP1):c.368C>T (p.Ala123Val)	DTNBP1 (A106V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2193264	NM_032122.5(DTNBP1):c.804C>T (p.Pro268=)	DTNBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2186707	NM_032122.5(DTNBP1):c.255G>A (p.Ala85=)	DTNBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2181552	NM_032122.5(DTNBP1):c.286G>A (p.Glu96Lys)	DTNBP1 (E15K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2172986	NM_032122.5(DTNBP1):c.540G>A (p.Lys180=)	DTNBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2172803	NM_032122.5(DTNBP1):c.338C>A (p.Ser113Tyr)	DTNBP1 (S32Y +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2163904	NM_032122.5(DTNBP1):c.952G>A (p.Val318Ile)	DTNBP1 (V301I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2150421	NM_032122.5(DTNBP1):c.922C>A (p.Arg308=)	DTNBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2141648	NM_032122.5(DTNBP1):c.849C>T (p.Leu283=)	DTNBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2133834	NM_032122.5(DTNBP1):c.56+11G>A	DTNBP1, LOC129995888	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2122001	NM_032122.5(DTNBP1):c.936G>A (p.Glu312=)	DTNBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2111863	NM_032122.5(DTNBP1):c.82A>G (p.Arg28Gly)	DTNBP1 (R28G)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2110327	NM_032122.5(DTNBP1):c.377AGG[1] (p.Glu127del)	DTNBP1 (E127del +3 more)	Microsatellite (inframe_deletion +2 more)	not provided	GUncertain significance
Select item 2109850	NM_032122.5(DTNBP1):c.812-20T>C	DTNBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2103251	NM_032122.5(DTNBP1):c.465G>A (p.Leu155=)	DTNBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2102091	NM_032122.5(DTNBP1):c.937G>A (p.Gly313Ser)	DTNBP1 (G296S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2096949	NM_032122.5(DTNBP1):c.360T>C (p.His120=)	DTNBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2091758	NM_032122.5(DTNBP1):c.323T>C (p.Ile108Thr)	DTNBP1 (I91T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2086923	NM_032122.5(DTNBP1):c.57-16_57-10del	DTNBP1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2086870	NM_032122.5(DTNBP1):c.162-5T>C	DTNBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2077798	NM_032122.5(DTNBP1):c.964G>A (p.Asp322Asn)	DTNBP1 (D287N +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2074320	NM_032122.5(DTNBP1):c.923G>A (p.Arg308Gln)	DTNBP1 (R227Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2071475	NM_032122.5(DTNBP1):c.689C>T (p.Ser230Phe)	DTNBP1 (S195F +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2068358	NM_032122.5(DTNBP1):c.79_83del (p.Ser27fs)	DTNBP1 (S27fs)	Deletion (5 prime UTR variant +3 more)	not provided	GPathogenic
Select item 2063940	NM_032122.5(DTNBP1):c.688T>C (p.Ser230Pro)	DTNBP1 (S149P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2059938	NM_032122.5(DTNBP1):c.805G>A (p.Ala269Thr)	DTNBP1 (A252T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2050410	NM_032122.5(DTNBP1):c.840G>T (p.Glu280Asp)	DTNBP1 (E199D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2034062	NM_032122.5(DTNBP1):c.801C>G (p.Ser267=)	DTNBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2022927	NM_032122.5(DTNBP1):c.922C>T (p.Arg308Trp)	DTNBP1 (R291W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2021758	NM_032122.5(DTNBP1):c.511+9G>T	DTNBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2021184	NM_032122.5(DTNBP1):c.356-3C>A	DTNBP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2019703	NM_032122.5(DTNBP1):c.171T>C (p.Asp57=)	DTNBP1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2005301	NM_032122.5(DTNBP1):c.192A>G (p.Arg64=)	DTNBP1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1997120	NM_032122.5(DTNBP1):c.174A>G (p.Thr58=)	DTNBP1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1989993	NM_032122.5(DTNBP1):c.388A>G (p.Asn130Asp)	DTNBP1 (N49D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1971681	NM_032122.5(DTNBP1):c.478A>G (p.Lys160Glu)	DTNBP1 (K143E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1968264	NM_032122.5(DTNBP1):c.512-2A>C	DTNBP1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1951071	NM_032122.5(DTNBP1):c.889_904dup (p.Cys302fs)	DTNBP1 (C221fs +3 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1950792	NM_032122.5(DTNBP1):c.162-14T>C	DTNBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1950240	NM_032122.5(DTNBP1):c.457C>G (p.Gln153Glu)	DTNBP1 (Q136E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1949897	NM_032122.5(DTNBP1):c.689C>A (p.Ser230Tyr)	DTNBP1 (S195Y +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1942839	NM_032122.5(DTNBP1):c.161+5G>A	DTNBP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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