10900[Gene ID] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +633 more	Copy number gain	See cases	GPathogenic
Select item 59586	GRCh38/hg38 17q21.31(chr17:43570878-44762377)x1	ADAM11, ASB16 +104 more	Copy number loss	See cases	GPathogenic
Select item 145615	GRCh38/hg38 17q21.31(chr17:43934167-44854025)x1	ADAM11, ASB16 +86 more	Copy number loss	See cases	GPathogenic
Select item 3157189	NM_001144825.2(RUNDC3A):c.164C>T (p.Ser55Leu)	RUNDC3A (S55L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157190	NM_001144825.2(RUNDC3A):c.214C>T (p.Arg72Cys)	RUNDC3A (R72C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297219	NM_001144825.2(RUNDC3A):c.284A>T (p.Asp95Val)	RUNDC3A (D90V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258327	NM_001144825.2(RUNDC3A):c.440G>A (p.Arg147His)	RUNDC3A (R142H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461910	NM_001144825.2(RUNDC3A):c.523A>C (p.Ile175Leu)	RUNDC3A (I175L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469193	NM_001144825.2(RUNDC3A):c.770A>G (p.Lys257Arg)	RUNDC3A (K257R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209112	NM_001144825.2(RUNDC3A):c.928G>C (p.Val310Leu)	RUNDC3A (V310L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157192	NM_001144825.2(RUNDC3A):c.929T>A (p.Val310Glu)	RUNDC3A (V305E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468634	NM_001144825.2(RUNDC3A):c.1036T>C (p.Ser346Pro)	RUNDC3A (S341P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237443	NM_001144825.2(RUNDC3A):c.1043G>A (p.Gly348Glu)	RUNDC3A (G343E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548146	NM_001144825.2(RUNDC3A):c.1062G>C (p.Glu354Asp)	RUNDC3A (E349D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647831	NM_001144825.2(RUNDC3A):c.1104G>A (p.Met368Ile)	RUNDC3A (M363I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3157187	NM_001144825.2(RUNDC3A):c.1271C>T (p.Ala424Val)	RUNDC3A (A424V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157188	NM_001144825.2(RUNDC3A):c.1325C>T (p.Ala442Val)	RUNDC3A (A442V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 832076	NC_000017.11:g.(?_44027807)_(44352876_?)dup	ASB16, ATXN7L3 +10 more	Duplication	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic

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Items: 22