ClinVar for Gene (Select 10540) - ClinVar

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Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3271157	NM_001261413.2(DCTN2):c.648C>G (p.Asp216Glu)	DCTN2 (D129E +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3244244	NC_000012.11:g.(?_56711393)_(58190366_?)dup	SDR9C7, TSPAN31 +51 more	Duplication	Cataract 15 multiple types +3 more	GUncertain significance
Select item 3080649	NM_001261413.2(DCTN2):c.572C>T (p.Ser191Leu)	DCTN2 (S168L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3027123	NM_001261413.2(DCTN2):c.1119+7G>A	DCTN2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3025379	NM_001261413.2(DCTN2):c.1135C>T (p.Arg379Cys)	DCTN2, MBD6 (R292C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3024931	NM_001261413.2(DCTN2):c.1192A>C (p.Lys398Gln)	DCTN2, MBD6 (K311Q +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2643137	NM_001261413.2(DCTN2):c.782T>C (p.Val261Ala)	DCTN2 (V174A +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2532835	NM_001261413.2(DCTN2):c.646G>A (p.Asp216Asn)	DCTN2 (D216N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2498574	GRCh37/hg19 12q13.3-14.1(chr12:57064059-59314016)x1	PIP4K2C, SDR9C7 +45 more	Copy number loss	not provided	GLikely pathogenic
Select item 2425253	NC_000012.11:g.(?_57906514)_(57976962_?)dup	DCTN2, DDIT3 +4 more	Duplication	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +2 more	GUncertain significance
Select item 2422308	NC_000012.11:g.(?_57534470)_(58190366_?)dup	AGAP2, ARHGAP9 +27 more	Duplication	Familial melanoma	GUncertain significance
Select item 2366267	NM_001261413.2(DCTN2):c.563A>C (p.Lys188Thr)	DCTN2 (K190T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314496	NM_001261413.2(DCTN2):c.246A>T (p.Glu82Asp)	DCTN2 (E127D +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1808720	GRCh37/hg19 12q13.3-14.1(chr12:57631073-58236597)x1	AGAP2, ARHGAP9 +27 more	Copy number loss	not provided	GLikely pathogenic
Select item 1701205	NM_001261413.2(DCTN2):c.673G>A (p.Ala225Thr)	DCTN2 (A138T +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1410313	NC_000012.11:g.(?_57881874)_(58190366_?)dup	AGAP2, ARHGEF25 +17 more	Duplication	not provided	GUncertain significance
Select item 1330219	NM_001261413.2(DCTN2):c.503A>T (p.Asp168Val)	DCTN2 (D145V +5 more)	Single nucleotide variant (missense variant +1 more)	See cases	GUncertain significance
Select item 1298549	NM_001261413.2(DCTN2):c.19G>T (p.Ala7Ser)	DCTN2 (A7S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 815529	GRCh37/hg19 12q13.3-14.1(chr12:57582163-59031979)x1	AGAP2, ARHGAP9 +31 more	Copy number loss	not provided	GLikely pathogenic
Select item 815528	GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3	AGAP2, ANKRD52 +105 more	Copy number gain	not provided	GPathogenic
Select item 546711	NM_001261413.2(DCTN2):c.1144C>G (p.Leu382Val)	DCTN2, MBD6 (L387V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 217860	NM_001261413.2(DCTN2):c.322C>T (p.His108Tyr)	DCTN2 (H113Y +5 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 59020	GRCh38/hg38 12q13.3-14.1(chr12:57041158-60273934)x1	AGAP2, AGAP2-AS1 +162 more	Copy number loss	See cases	GPathogenic
Select item 59019	GRCh38/hg38 12q13.3-14.2(chr12:57013355-63042498)x1	AGAP2, AGAP2-AS1 +199 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 28