"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "DTNBP1" - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1368106	NM_032122.5(DTNBP1):c.1049A>G (p.Asp350Gly)	DTNBP1 (D269G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1369551	NM_032122.5(DTNBP1):c.1048G>A (p.Asp350Asn)	DTNBP1 (D315N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000294	NM_032122.5(DTNBP1):c.1044C>T (p.Asp348=)	DTNBP1	Single nucleotide variant (synonymous variant)	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 1635718	NM_032122.5(DTNBP1):c.1029G>A (p.Pro343=)	DTNBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1465462	NM_032122.5(DTNBP1):c.1028C>T (p.Pro343Leu)	DTNBP1 (P262L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1714630	NM_032122.5(DTNBP1):c.1024A>T (p.Thr342Ser)	DTNBP1 (T261S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1387615	NM_032122.5(DTNBP1):c.1019_1020delinsGC (p.Glu340Gly)	DTNBP1 (E259G +3 more)	Indel (missense variant)	not provided +1 more	GUncertain significance
Select item 626951	NM_032122.5(DTNBP1):c.1017_1020del (p.Glu340fs)	DTNBP1 (E259fs +3 more)	Microsatellite (frameshift variant)	Hermansky-Pudlak syndrome 7 +2 more	GConflicting classifications of pathogenicity
Select item 434965	NM_032122.5(DTNBP1):c.1019_1020del (p.Glu340fs)	DTNBP1 (E305fs +3 more)	Microsatellite (frameshift variant)	not provided +2 more	GUncertain significance
Select item 1491228	NM_032122.5(DTNBP1):c.1009A>G (p.Thr337Ala)	DTNBP1 (T302A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1477698	NM_032122.5(DTNBP1):c.997dup (p.Ala333fs)	DTNBP1 (A316fs +3 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1405435	NM_032122.5(DTNBP1):c.991G>A (p.Ala331Thr)	DTNBP1 (A331T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1347095	NM_032122.5(DTNBP1):c.969GGA[3] (p.Glu325dup)	DTNBP1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1515278	NM_032122.5(DTNBP1):c.969GGA[1] (p.Glu325del)	DTNBP1 (E244del +3 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1468295	NM_032122.5(DTNBP1):c.967G>A (p.Glu323Lys)	DTNBP1 (E242K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1445968	NM_032122.5(DTNBP1):c.966T>G (p.Asp322Glu)	DTNBP1 (D322E +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 2878458	NM_032122.5(DTNBP1):c.963C>T (p.Ser321=)	DTNBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1661502	NM_032122.5(DTNBP1):c.957T>C (p.Val319=)	DTNBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1628743	NM_032122.5(DTNBP1):c.951C>T (p.Pro317=)	DTNBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 98377	NM_032122.5(DTNBP1):c.950C>G (p.Pro317Arg)	DTNBP1 (P317R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1513123	NM_032122.5(DTNBP1):c.946T>C (p.Ser316Pro)	DTNBP1 (S281P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1942272	NM_032122.5(DTNBP1):c.942G>A (p.Gly314=)	DTNBP1	Single nucleotide variant (synonymous variant)	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 2122001	NM_032122.5(DTNBP1):c.936G>A (p.Glu312=)	DTNBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1444157	NM_032122.5(DTNBP1):c.928A>G (p.Ile310Val)	DTNBP1 (I293V +3 more)	Single nucleotide variant (missense variant)	not provided	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 2150421	NM_032122.5(DTNBP1):c.922C>A (p.Arg308=)	DTNBP1	Single nucleotide variant (synonymous variant)	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 2901718	NM_032122.5(DTNBP1):c.921C>G (p.Thr307=)	DTNBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1653497	NM_032122.5(DTNBP1):c.915G>A (p.Ser305=)	DTNBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1427330	NM_032122.5(DTNBP1):c.914C>T (p.Ser305Leu)	DTNBP1 (S270L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1135023	NM_032122.5(DTNBP1):c.909C>T (p.Thr303=)	DTNBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1610347	NM_032122.5(DTNBP1):c.900C>T (p.Ser300=)	DTNBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 262013	NM_032122.5(DTNBP1):c.886C>T (p.Pro296Ser)	DTNBP1 (P296S +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 226620	NM_032122.5(DTNBP1):c.874A>G (p.Arg292Gly)	DTNBP1 (R292G +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 2141648	NM_032122.5(DTNBP1):c.849C>T (p.Leu283=)	DTNBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1921153	NM_032122.5(DTNBP1):c.846C>T (p.Thr282=)	DTNBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1418593	NM_032122.5(DTNBP1):c.830dup (p.Cys277fs)	DTNBP1 (C242fs +3 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1137925	NM_032122.5(DTNBP1):c.831T>C (p.Cys277=)	DTNBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1493670	NM_032122.5(DTNBP1):c.818A>C (p.Glu273Ala)	DTNBP1 (E192A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 163299	NM_032122.5(DTNBP1):c.814C>T (p.Pro272Ser)	DTNBP1 (P272S +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 1923971	NM_032122.5(DTNBP1):c.812-12G>A	DTNBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1606616	NM_032122.5(DTNBP1):c.812-13C>T	DTNBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1137921	NM_032122.5(DTNBP1):c.812-17C>T	DTNBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2109850	NM_032122.5(DTNBP1):c.812-20T>C	DTNBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1326384	NM_032122.5(DTNBP1):c.811+15C>G	DTNBP1 (L276V)	Single nucleotide variant (missense variant +2 more)	not provided	GConflicting classifications of pathogenicity
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 2193264	NM_032122.5(DTNBP1):c.804C>T (p.Pro268=)	DTNBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 434962	NM_032122.5(DTNBP1):c.790A>G (p.Thr264Ala)	DTNBP1 (T264A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1587590	NM_032122.5(DTNBP1):c.777A>G (p.Gly259=)	DTNBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 724664	NM_032122.5(DTNBP1):c.768G>T (p.Leu256=)	DTNBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1153519	NM_032122.5(DTNBP1):c.765C>T (p.Phe255=)	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 1595906	NM_032122.5(DTNBP1):c.741G>A (p.Ser247=)	DTNBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1900689	NM_032122.5(DTNBP1):c.740C>T (p.Ser247Leu)	DTNBP1 (S166L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1442579	NM_032122.5(DTNBP1):c.738A>G (p.Ile246Met)	DTNBP1 (I229M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1483456	NM_032122.5(DTNBP1):c.736A>G (p.Ile246Val)	DTNBP1 (I246V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1509785	NM_032122.5(DTNBP1):c.733G>C (p.Asp245His)	DTNBP1 (D210H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1522320	NM_032122.5(DTNBP1):c.709A>G (p.Met237Val)	DTNBP1 (M156V +3 more)	Single nucleotide variant (missense variant +1 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 1412126	NM_032122.5(DTNBP1):c.703G>A (p.Val235Met)	DTNBP1 (V154M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 210858	NM_032122.5(DTNBP1):c.702C>T (p.Asn234=)	DTNBP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 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 1469227	NM_032122.5(DTNBP1):c.674T>C (p.Ile225Thr)	DTNBP1 (I144T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1497048	NM_032122.5(DTNBP1):c.671C>G (p.Pro224Arg)	DTNBP1 (P189R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1909531	NM_032122.5(DTNBP1):c.668-4G>A	DTNBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 740548	NM_032122.5(DTNBP1):c.668-5C>T	DTNBP1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 355965	NM_032122.5(DTNBP1):c.668-8A>G	DTNBP1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 355966	NM_032122.5(DTNBP1):c.668-14del	DTNBP1	Deletion (intron variant)	Hermansky-Pudlak syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1919474	NM_032122.5(DTNBP1):c.668-16G>T	DTNBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2693256	NM_032122.5(DTNBP1):c.668-18G>C	DTNBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1639380	NM_032122.5(DTNBP1):c.668-18G>A	DTNBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1639758	NM_032122.5(DTNBP1):c.668-19C>T	DTNBP1	Single nucleotide variant (intron variant)	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 1650544	NM_032122.5(DTNBP1):c.667+11G>C	DTNBP1	Single nucleotide variant (intron variant)	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 1640883	NM_032122.5(DTNBP1):c.667+7G>A	DTNBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1133040	NM_032122.5(DTNBP1):c.667+7G>T	DTNBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 226619	NM_032122.5(DTNBP1):c.667+2C>T	DTNBP1	Single nucleotide variant (splice donor variant)	not specified +1 more	GBenign
Select item 434963	NM_032122.5(DTNBP1):c.662G>A (p.Arg221Gln)	DTNBP1 (R221Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GLikely benign
Select item 1461913	NM_032122.5(DTNBP1):c.661C>G (p.Arg221Gly)	DTNBP1 (R204G +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 98378	NM_032122.5(DTNBP1):c.654T>G (p.Ile218Met)	DTNBP1 (I218M +3 more)	Single nucleotide variant (missense variant +1 more)	DTNBP1-related disorder +1 more	GUncertain significance
Select item 1524269	NM_032122.5(DTNBP1):c.652A>G (p.Ile218Val)	DTNBP1 (I201V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1117980	NM_032122.5(DTNBP1):c.645C>T (p.Tyr215=)	DTNBP1	Single nucleotide variant (synonymous variant +1 more)	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 1426009	NM_032122.5(DTNBP1):c.620T>C (p.Met207Thr)	DTNBP1 (M190T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1444559	NM_032122.5(DTNBP1):c.602A>T (p.Glu201Val)	DTNBP1 (E201V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1433536	NM_032122.5(DTNBP1):c.583C>T (p.Arg195Trp)	DTNBP1 (R195W +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 2999313	NM_032122.5(DTNBP1):c.543C>T (p.Val181=)	DTNBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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