DYNLL2[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +1753 more	Copy number gain	See cases	GPathogenic
Select item 146083	GRCh38/hg38 17q22(chr17:56683505-58084939)x1	AKAP1, AKAP1-DT +83 more	Copy number loss	See cases	GPathogenic
Select item 59591	GRCh38/hg38 17q22(chr17:56958745-58171125)x1	AKAP1, AKAP1-DT +76 more	Copy number loss	See cases	GPathogenic
Select item 151500	GRCh38/hg38 17q22-23.1(chr17:57418806-59735464)x1	C17orf47, CCDC182 +168 more	Copy number loss	See cases	GPathogenic
Select item 2513074	NM_080677.3(DYNLL2):c.64G>A (p.Val22Ile)	DYNLL2 (V22I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340627	NM_080677.3(DYNLL2):c.128A>G (p.Lys43Arg)	DYNLL2 (K43R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2429783	NC_000017.10:g.(?_55806534)_(56540597_?)del	OR4D2, SUPT4H1 +14 more	Deletion	Neurodevelopmental delay +1 more	GPathogenic
Select item 2429780	NC_000017.10:g.(?_55442363)_(56309063_?)del	MRPS23, MSI2 +9 more	Deletion	Neurodevelopmental delay +1 more	GPathogenic
Select item 1710927	GRCh37/hg19 17q22(chr17:55043662-56728123)x1	LPO, MKS1 +21 more	Copy number loss	See cases	GPathogenic
Select item 1412084	NC_000017.10:g.(?_54671585)_(59938900_?)dup	AKAP1, APPBP2 +54 more	Duplication	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 394267	GRCh37/hg19 17q22(chr17:52189051-57477162)x3	AKAP1, ANKFN1 +42 more	Copy number gain	See cases	GPathogenic
Select item 394158	GRCh37/hg19 17q21.33-23.2(chr17:49076980-58740945)x3	AKAP1, ANKFN1 +65 more	Copy number gain	See cases	GPathogenic
Select item 253345	GRCh37/hg19 17q22(chr17:55916829-56770618)x1	MKS1, DYNLL2 +19 more	Copy number loss	See cases	GLikely pathogenic