"GeneDx"[submitter] AND "DTNBP1"[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1186934	NC_000006.12:g.15522688C>T	DTNBP1	Single nucleotide variant	not provided	GLikely benign
Select item 1253457	NM_032122.5(DTNBP1):c.*105A>G	DTNBP1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1706688	NM_032122.5(DTNBP1):c.*54G>A	DTNBP1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
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 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 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 1220915	NM_032122.5(DTNBP1):c.811+369C>A	DTNBP1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1257273	NM_032122.5(DTNBP1):c.811+277C>T	DTNBP1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1235374	NM_032122.5(DTNBP1):c.811+276A>G	DTNBP1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1270357	NM_032122.5(DTNBP1):c.811+259_811+262del	DTNBP1	Microsatellite (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1214828	NM_032122.5(DTNBP1):c.811+194A>G	DTNBP1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1267862	NM_032122.5(DTNBP1):c.811+158T>C	DTNBP1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 163301	NM_032122.5(DTNBP1):c.811+78C>T	DTNBP1 (H297Y)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GBenign/Likely benign
Select item 450308	NM_032122.5(DTNBP1):c.811+70G>T	DTNBP1 (R294L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1326385	NM_032122.5(DTNBP1):c.811+63G>A	DTNBP1 (V292M)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 178772	NM_032122.5(DTNBP1):c.811+59A>G	DTNBP1	Single nucleotide variant (non-coding transcript variant +2 more)	not specified +1 more	GBenign
Select item 1195511	NM_032122.5(DTNBP1):c.811+42C>T	DTNBP1 (R285*)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
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 1304036	NM_032122.5(DTNBP1):c.811+31C>T	DTNBP1 (P281L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 1314402	NM_032122.5(DTNBP1):c.673A>G (p.Ile225Val)	DTNBP1 (I144V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1230151	NM_032122.5(DTNBP1):c.668-211dup	DTNBP1	Duplication (intron variant)	not provided	GBenign
Select item 1270549	NM_032122.5(DTNBP1):c.668-257G>A	DTNBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216593	NM_032122.5(DTNBP1):c.668-276G>A	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 1243877	NM_032122.5(DTNBP1):c.512-107G>A	DTNBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192088	NM_032122.5(DTNBP1):c.512-214C>T	DTNBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215986	NM_032122.5(DTNBP1):c.512-233C>T	DTNBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225208	NM_032122.5(DTNBP1):c.512-325G>A	DTNBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236072	NM_032122.5(DTNBP1):c.511+64C>T	DTNBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 262012	NM_032122.5(DTNBP1):c.511+50A>G	DTNBP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 355969	NM_032122.5(DTNBP1):c.489-8dup	DTNBP1	Duplication (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1283856	NM_032122.5(DTNBP1):c.489-285_489-284del	DTNBP1	Microsatellite (intron variant)	not provided	GBenign
Select item 1706808	NM_032122.5(DTNBP1):c.488+197G>A	DTNBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231977	NM_032122.5(DTNBP1):c.488+139dup	DTNBP1	Duplication (intron variant)	not provided	GBenign
Select item 163302	NM_032122.5(DTNBP1):c.356-7C>T	DTNBP1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 262010	NM_032122.5(DTNBP1):c.355+21G>C	DTNBP1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1282033	NM_032122.5(DTNBP1):c.223-65G>A	DTNBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216725	NM_032122.5(DTNBP1):c.223-327dup	DTNBP1	Duplication (intron variant)	not provided	GLikely benign
Select item 1268843	NM_032122.5(DTNBP1):c.223-316del	DTNBP1	Deletion (intron variant)	not provided	GBenign
Select item 1707142	NM_032122.5(DTNBP1):c.222+26C>T	DTNBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225221	NM_032122.5(DTNBP1):c.162-105G>T	DTNBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213271	NM_032122.5(DTNBP1):c.111-49del	DTNBP1	Deletion (intron variant)	not provided	GLikely benign
Select item 1219680	NM_032122.5(DTNBP1):c.111-165A>C	DTNBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1229899	NM_032122.5(DTNBP1):c.57-81C>T	DTNBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199696	NM_032122.5(DTNBP1):c.57-138G>A	DTNBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251590	NM_032122.5(DTNBP1):c.56+262G>C	DTNBP1, LOC129995888	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225118	NM_032122.5(DTNBP1):c.56+154C>T	DTNBP1, LOC129995888	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 262009	NM_032122.5(DTNBP1):c.-18A>G	DTNBP1, LOC129995888	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 1223631	NC_000006.12:g.15663196dup	DTNBP1	Duplication	not provided	GLikely benign
Select item 1218638	NC_000006.12:g.15663196del	DTNBP1	Deletion	not provided	GLikely benign
Select item 253526	GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3	STMND1, SYCP2L +95 more	Copy number gain	See cases	GPathogenic
Select item 253430	GRCh37/hg19 6p25.1-22.3(chr6:5354402-17950079)x1	ADTRP, ATXN1 +51 more	Copy number loss	See cases	GPathogenic

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Items: 53