ClinVar for Gene (Select 51143) - ClinVar

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Links from Gene

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3274163	NM_016141.4(DYNC1LI1):c.1471C>T (p.Pro491Ser)	DYNC1LI1 (P491S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3086458	NM_016141.4(DYNC1LI1):c.952A>G (p.Lys318Glu)	DYNC1LI1 (K202E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086457	NM_016141.4(DYNC1LI1):c.819G>C (p.Lys273Asn)	DYNC1LI1 (K273N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086456	NM_016141.4(DYNC1LI1):c.694C>T (p.Leu232Phe)	DYNC1LI1 (L232F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086455	NM_016141.4(DYNC1LI1):c.686C>T (p.Ala229Val)	DYNC1LI1 (A229V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086453	NM_016141.4(DYNC1LI1):c.1487A>G (p.His496Arg)	DYNC1LI1 (H380R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 2685913	GRCh37/hg19 3p22.3(chr3:32324460-33982773)x3	CCR4, CLASP2 +13 more	Copy number gain	not provided	GUncertain significance
Select item 2619038	NM_016141.4(DYNC1LI1):c.1547C>G (p.Ser516Cys)	DYNC1LI1 (S400C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606858	NM_016141.4(DYNC1LI1):c.941T>C (p.Val314Ala)	DYNC1LI1 (V198A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537712	NM_016141.4(DYNC1LI1):c.1105G>A (p.Ala369Thr)	DYNC1LI1 (A369T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525790	NM_016141.4(DYNC1LI1):c.1235C>A (p.Ser412Tyr)	DYNC1LI1 (S296Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403150	NM_016141.4(DYNC1LI1):c.1235C>G (p.Ser412Cys)	DYNC1LI1 (S412C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402870	NM_016141.4(DYNC1LI1):c.505G>T (p.Val169Phe)	DYNC1LI1 (V169F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400213	NM_016141.4(DYNC1LI1):c.445G>A (p.Val149Ile)	DYNC1LI1 (V149I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355135	NM_016141.4(DYNC1LI1):c.614C>T (p.Pro205Leu)	DYNC1LI1 (P205L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331604	NM_016141.4(DYNC1LI1):c.583C>G (p.Gln195Glu)	DYNC1LI1 (Q79E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286923	NM_016141.4(DYNC1LI1):c.1553C>T (p.Thr518Met)	DYNC1LI1 (T518M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282622	NM_016141.4(DYNC1LI1):c.517G>T (p.Val173Phe)	DYNC1LI1 (V173F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280237	NM_016141.4(DYNC1LI1):c.607G>C (p.Asp203His)	DYNC1LI1 (D87H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277694	NM_016141.4(DYNC1LI1):c.833A>T (p.Tyr278Phe)	DYNC1LI1 (Y278F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272954	NM_016141.4(DYNC1LI1):c.17G>A (p.Arg6Gln)	DYNC1LI1 (R6Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237197	NM_016141.4(DYNC1LI1):c.1061C>T (p.Thr354Ile)	DYNC1LI1 (T354I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527005	GRCh37/hg19 3p23-22.3(chr3:31859973-33127072)	CCR4, CMTM6 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1527002	GRCh37/hg19 3p24.2-22.3(chr3:25045365-32691140)	AZI2, CMC1 +20 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1455527	NC_000003.11:g.(?_16710965)_(41275270_?)del	ACAA1, ACVR2B +93 more	Deletion	not provided	GPathogenic
Select item 562760	GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	ABHD5, ACAA1 +135 more	Copy number gain	not provided	GPathogenic
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	ANKRD28, APRG1 +155 more	Copy number gain	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 441705	GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	TRIM71, TRNT1 +145 more	Copy number gain	See cases	GPathogenic
Select item 253599	GRCh37/hg19 3p24.1-22.3(chr3:29689082-34233218)x1	CCR4, CLASP2 +20 more	Copy number loss	See cases	GPathogenic
Select item 156716	NM_016141.4(DYNC1LI1):c.1441C>G (p.Pro481Ala)	DYNC1LI1 (P481A +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 57769	GRCh38/hg38 3p22.3-22.2(chr3:32322382-36775606)x1	ARPP21, ARPP21-AS1 +87 more	Copy number loss	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 39