84062[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 317

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +825 more	Copy number gain	See cases	GPathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	ADTRP, ATXN1 +779 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 154368	GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1	ADTRP, ATXN1 +617 more	Copy number loss	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 146907	GRCh38/hg38 6p24.1-22.3(chr6:13311519-16295560)x3	CD83, DTNBP1 +177 more	Copy number gain	See cases	GPathogenic
Select item 146914	GRCh38/hg38 6p23-22.3(chr6:14545345-16062792)x3	DTNBP1, JARID2 +91 more	Copy number gain	See cases	GUncertain significance
Select item 148200	GRCh38/hg38 6p23-22.3(chr6:14730556-17554091)x1	LOC129995876, LOC129995877 +135 more	Copy number loss	See cases	GLikely pathogenic
Select item 152197	GRCh38/hg38 6p23-22.3(chr6:14958760-18580908)x3	ATXN1, ATXN1-AS1 +162 more	Copy number gain	See cases	GUncertain significance
Select item 1186934	NC_000006.12:g.15522688C>T	DTNBP1	Single nucleotide variant	not provided	GLikely benign
Select item 355958	NM_032122.5(DTNBP1):c.151_152dup	DTNBP1	Duplication (3 prime UTR variant)	Hermansky-Pudlak syndrome	GUncertain significance
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 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 +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 98375	NM_032122.5(DTNBP1):c.1020G>C (p.Glu340Asp)	DTNBP1 (E340D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 98376	NM_032122.5(DTNBP1):c.1019A>G (p.Glu340Gly)	DTNBP1 (E340G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 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)	DTNBP1-related disorder +1 more	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 1653497	NM_032122.5(DTNBP1):c.915G>A (p.Ser305=)	DTNBP1	Single nucleotide variant (synonymous variant)	not provided +1 more	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 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 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 1698876	NM_032122.5(DTNBP1):c.872T>G (p.Leu291Ter)	DTNBP1 (L210* +3 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 7	GLikely pathogenic
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 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 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 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 163300	NM_032122.5(DTNBP1):c.811+96G>A	DTNBP1 (A303T)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GLikely benign
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 2691648	NM_032122.5(DTNBP1):c.811+70G>A	DTNBP1 (R294H)	Single nucleotide variant (intron variant +2 more)	not specified	GBenign
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 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 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)	Inborn genetic diseases +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 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 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

<< First< Prev

Page of 4