ClinVar for Gene (Select 1781) - ClinVar

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Links from Gene

Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336508	NM_001378.3(DYNC1I2):c.1903C>T (p.Arg635Ter)	DYNC1I2 (R608* +5 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 3274162	NM_001378.3(DYNC1I2):c.910G>A (p.Asp304Asn)	DYNC1I2 (D298N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274161	NM_001378.3(DYNC1I2):c.1739A>C (p.His580Pro)	DYNC1I2 (H554P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274159	NM_001378.3(DYNC1I2):c.1588G>A (p.Val530Ile)	DYNC1I2 (V504I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3233800	NM_001378.3(DYNC1I2):c.144A>C (p.Gln48His)	DYNC1I2 (Q48H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3233799	NM_001378.3(DYNC1I2):c.398G>A (p.Arg133Gln)	DYNC1I2 (R107Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086451	NM_001378.3(DYNC1I2):c.836A>G (p.His279Arg)	DYNC1I2 (H253R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086450	NM_001378.3(DYNC1I2):c.551C>A (p.Pro184His)	DYNC1I2 (P158H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086449	NM_001378.3(DYNC1I2):c.523G>T (p.Asp175Tyr)	DYNC1I2 (D149Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086448	NM_001378.3(DYNC1I2):c.224T>C (p.Ile75Thr)	DYNC1I2 (I75T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086447	NM_001378.3(DYNC1I2):c.1843G>C (p.Gly615Arg)	DYNC1I2 (G608R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062617	GRCh37/hg19 2q24.2-31.1(chr2:162692199-174452488)x1	ABCB11, B3GALT1 +57 more	Copy number loss	not specified	GPathogenic
Select item 3060840	NM_001378.3(DYNC1I2):c.512-4dup	DYNC1I2	Duplication (intron variant)	DYNC1I2-related disorder	GBenign
Select item 3056393	NM_001378.3(DYNC1I2):c.512-5_512-4del	DYNC1I2	Deletion (intron variant)	DYNC1I2-related disorder	GBenign
Select item 3056366	NM_001378.3(DYNC1I2):c.512-5_512-4dup	DYNC1I2	Duplication (intron variant)	DYNC1I2-related disorder	GBenign
Select item 3055403	NM_001378.3(DYNC1I2):c.512-3C>A	DYNC1I2	Single nucleotide variant (intron variant)	DYNC1I2-related disorder	GLikely benign
Select item 3053885	NM_001378.3(DYNC1I2):c.1546C>G (p.Pro516Ala)	DYNC1I2 (P490A +3 more)	Single nucleotide variant (missense variant)	DYNC1I2-related disorder	GLikely benign
Select item 3027361	NM_001378.3(DYNC1I2):c.354A>G (p.Thr118=)	DYNC1I2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3025172	NM_001378.3(DYNC1I2):c.306A>G (p.Gln102=)	DYNC1I2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2817809	NM_001378.3(DYNC1I2):c.49C>T (p.Arg17Ter)	DYNC1I2 (R17*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2760151	NM_001378.3(DYNC1I2):c.108A>T (p.Glu36Asp)	DYNC1I2 (E36D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688987	NM_001378.3(DYNC1I2):c.1678-3T>C	DYNC1I2	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with microcephaly and structural brain anomalies	GUncertain significance
Select item 2688986	NM_001378.3(DYNC1I2):c.245-19T>G	DYNC1I2 (C88G)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with microcephaly and structural brain anomalies	GUncertain significance
Select item 2672833	NM_001378.3(DYNC1I2):c.1653G>A (p.Leu551=)	DYNC1I2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651544	NM_001378.3(DYNC1I2):c.1857A>T (p.Ala619=)	DYNC1I2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651543	NM_001378.3(DYNC1I2):c.1269G>A (p.Glu423=)	DYNC1I2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2619289	NM_001378.3(DYNC1I2):c.1109T>C (p.Val370Ala)	DYNC1I2 (V362A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606413	NM_001378.3(DYNC1I2):c.1628T>C (p.Val543Ala)	DYNC1I2 (V535A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600809	NM_001378.3(DYNC1I2):c.1042G>C (p.Val348Leu)	DYNC1I2 (V342L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554972	NM_001378.3(DYNC1I2):c.1724G>A (p.Arg575His)	DYNC1I2 (R569H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550164	NM_001378.3(DYNC1I2):c.114C>G (p.Asp38Glu)	DYNC1I2 (D38E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547640	NM_001378.3(DYNC1I2):c.721A>G (p.Ile241Val)	DYNC1I2 (I215V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518738	NM_001378.3(DYNC1I2):c.1820G>A (p.Arg607His)	DYNC1I2 (R581H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515102	NM_001378.3(DYNC1I2):c.1046T>G (p.Val349Gly)	DYNC1I2 (V349G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514637	NM_001378.3(DYNC1I2):c.596A>G (p.Asn199Ser)	DYNC1I2 (N191S +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2493916	NM_001378.3(DYNC1I2):c.1100G>T (p.Arg367Ile)	DYNC1I2 (R359I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492158	NM_001378.3(DYNC1I2):c.1849A>G (p.Thr617Ala)	DYNC1I2 (T590A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479243	NM_001378.3(DYNC1I2):c.464C>T (p.Thr155Met)	DYNC1I2 (T129M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463734	NM_001378.3(DYNC1I2):c.338C>T (p.Thr113Met)	DYNC1I2 (T107M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456764	NM_001378.3(DYNC1I2):c.1269G>T (p.Glu423Asp)	DYNC1I2 (E415D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424739	NC_000002.11:g.(?_171675102)_(174232392_?)dup	CDCA7, CYBRD1 +15 more	Duplication	not provided	GUncertain significance
Select item 2405190	NM_001378.3(DYNC1I2):c.697G>A (p.Val233Ile)	DYNC1I2 (V225I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380729	NM_001378.3(DYNC1I2):c.824G>A (p.Arg275His)	DYNC1I2 (R249H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352924	NM_001378.3(DYNC1I2):c.1373C>T (p.Thr458Ile)	DYNC1I2 (T450I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307120	NM_001378.3(DYNC1I2):c.1831T>C (p.Trp611Arg)	DYNC1I2 (W585R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287272	NM_001378.3(DYNC1I2):c.1666A>G (p.Asn556Asp)	DYNC1I2 (N550D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281830	NM_001378.3(DYNC1I2):c.220C>G (p.Pro74Ala)	DYNC1I2 (P74A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276571	NM_001378.3(DYNC1I2):c.808C>G (p.Gln270Glu)	DYNC1I2 (Q262E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215039	NM_001378.3(DYNC1I2):c.266C>G (p.Ser89Cys)	DYNC1I2 (S101C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206712	NM_001378.3(DYNC1I2):c.1874G>A (p.Arg625Gln)	DYNC1I2 (R598Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1723077	NM_001378.3(DYNC1I2):c.362C>A (p.Ser121Ter)	DYNC1I2 (S115* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1695396	Single allele	AGPS, ATF2 +47 more	Deletion	Split hand-foot malformation 5	GPathogenic
Select item 1694982	NM_001378.3(DYNC1I2):c.688A>G (p.Thr230Ala)	DYNC1I2 (T204A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1339653	GRCh37/hg19 2q24.2-31.1(chr2:160347642-174075851)x1	METTL8, PSMD14 +67 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 1324307	NM_001378.3(DYNC1I2):c.871-1G>A	DYNC1I2	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder with microcephaly and structural brain anomalies	GLikely pathogenic
Select item 1319229	NM_001378.3(DYNC1I2):c.511+1G>A	DYNC1I2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1047877	GRCh37/hg19 2q31.1-31.3(chr2:171999572-182774361)	PJVK, RBM45 +60 more	Copy number loss	3-4 finger osseus syndactyly +1 more	GPathogenic
Select item 1029274	NM_001378.3(DYNC1I2):c.1546C>A (p.Pro516Thr)	DYNC1I2 (P490T +3 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly and structural brain anomalies	GUncertain significance
Select item 1010962	NC_000002.11:g.(?_172291068)_(172750744_?)dup	CYBRD1, DCAF17 +3 more	Duplication	not provided	GUncertain significance
Select item 981210	GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1	ABCB11, AGPS +97 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 687517	GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	ABCB11, AGPS +125 more	Copy number loss	not provided	GPathogenic
Select item 635401	NM_001378.3(DYNC1I2):c.868C>T (p.Gln290Ter)	DYNC1I2 (Q290* +3 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	GPathogenic
Select item 635400	NM_001378.3(DYNC1I2):c.740A>G (p.Tyr247Cys)	DYNC1I2 (Y247C +3 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	GPathogenic
Select item 635399	NM_001378.3(DYNC1I2):c.607+1G>A	DYNC1I2	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with microcephaly and structural brain anomalies	GPathogenic
Select item 562670	GRCh37/hg19 2q31.1(chr2:171667051-176832848)x3	ATF2, ATP5MC3 +27 more	Copy number gain	not provided	GPathogenic
Select item 559503	GRCh37/hg19 2q31.1(chr2:172344870-173038935)x4	SLC25A12, DLX1 +5 more	Copy number gain	Isolated Pierre-Robin syndrome +3 more	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 402814	NM_001378.3(DYNC1I2):c.512-16T>G	DYNC1I2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic
Select item 221426	GRCh37/hg19 2q31.1(chr2:172379152-172803266)x3	CYBRD1, DYNC1I2 +2 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 150849	GRCh38/hg38 2q31.1-31.2(chr2:171513047-177854080)x1	AGPS, ATF2 +214 more	Copy number loss	See cases	GPathogenic
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 60249	GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1	LOC129935070, LOC129935071 +162 more	Copy number loss	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 more	Copy number loss	See cases	GPathogenic
Select item 58765	GRCh38/hg38 2q31.1(chr2:170444219-172050237)x1	LOC129935084, LOC129935085 +54 more	Copy number loss	See cases	GPathogenic
Select item 57491	GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1	ABCB11, ATF2 +269 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 82