ClinVar for Gene (Select 51406) - ClinVar

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Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3300278	NM_016167.5(NOL7):c.248T>G (p.Val83Gly)	NOL7 (V83G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300277	NM_016167.5(NOL7):c.23C>A (p.Ala8Glu)	NOL7 (A8E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201073	NM_016167.5(NOL7):c.425T>C (p.Leu142Ser)	NOL7 (L142S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201072	NM_016167.5(NOL7):c.280C>A (p.Leu94Met)	NOL7 (L94M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201071	NM_016167.5(NOL7):c.187G>A (p.Ala63Thr)	NOL7 (A63T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201070	NM_016167.5(NOL7):c.101G>A (p.Gly34Glu)	NOL7 (G34E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151464	NM_005493.3(RANBP9):c.2155T>G (p.Cys719Gly)	NOL7, RANBP9 (C719G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151463	NM_005493.3(RANBP9):c.2021G>A (p.Arg674Lys)	NOL7, RANBP9 (R674K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062894	GRCh37/hg19 6p24.1-22.3(chr6:12872219-17276508)x1	ATXN1, CD83 +13 more	Copy number loss	not specified	GPathogenic
Select item 2684439	GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3	ADTRP, BLOC1S5 +73 more	Copy number gain	not provided	GPathogenic
Select item 2610103	NM_005493.3(RANBP9):c.1920G>C (p.Lys640Asn)	NOL7, RANBP9 (K640N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601115	NM_016167.5(NOL7):c.25T>C (p.Ser9Pro)	NOL7 (S9P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600603	NM_016167.5(NOL7):c.9G>T (p.Gln3His)	NOL7 (Q3H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513306	NM_005493.3(RANBP9):c.1864C>A (p.His622Asn)	NOL7, RANBP9 (H622N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383706	NM_005493.3(RANBP9):c.2138G>A (p.Arg713Gln)	NOL7, RANBP9 (R713Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376310	NM_016167.5(NOL7):c.61G>C (p.Glu21Gln)	NOL7 (E21Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363837	NM_016167.5(NOL7):c.737G>A (p.Arg246Lys)	NOL7 (R246K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336493	NM_016167.5(NOL7):c.541G>A (p.Asp181Asn)	NOL7 (D181N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249547	NM_016167.5(NOL7):c.88G>A (p.Glu30Lys)	NOL7 (E30K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238156	NM_005493.3(RANBP9):c.1883A>G (p.Gln628Arg)	NOL7, RANBP9 (Q628R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205735	NM_005493.3(RANBP9):c.2180A>G (p.Tyr727Cys)	NOL7, RANBP9 (Y727C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1810398	GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3	ADTRP, ATXN1 +89 more	Copy number gain	See cases	GPathogenic
Select item 1809386	GRCh37/hg19 6p24.1-22.3(chr6:12005630-22849647)x1	ATXN1, CAP2 +32 more	Copy number loss	not provided	GPathogenic
Select item 1527223	GRCh37/hg19 6p24.1-22.3(chr6:12924014-15975708)	CD83, DTNBP1 +9 more	Copy number loss	not specified	GPathogenic
Select item 1527220	GRCh37/hg19 6p24.3-22.3(chr6:8269414-17402660)	RBM24, RNF182 +35 more	Copy number gain	not specified	GLikely pathogenic
Select item 689105	GRCh37/hg19 6p24.1-22.3(chr6:13248587-18083552)x3	ATXN1, CAP2 +18 more	Copy number gain	not provided	GUncertain significance
Select item 687409	GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3	ADTRP, ATXN1 +95 more	Copy number gain	not provided	GPathogenic
Select item 563140	GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3	ADTRP, ATXN1 +93 more	Copy number gain	not provided	GPathogenic
Select item 560067	Single allele	ADTRP, ATXN1 +95 more	Duplication	not provided	GPathogenic
Select item 523282	GRCh37/hg19 6p24.1-23(chr6:12536624-13968949)	RNF182, SIRT5 +6 more	Copy number gain	Astigmatism +12 more	GUncertain significance
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 253526	GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3	STMND1, SYCP2L +95 more	Copy number gain	See cases	GPathogenic
Select item 253430	GRCh37/hg19 6p25.1-22.3(chr6:5354402-17950079)x1	ADTRP, ATXN1 +51 more	Copy number loss	See cases	GPathogenic
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	ADTRP, BLOC1S5 +612 more	Copy number loss	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC129995681, LOC129995682 +643 more	Copy number gain	See cases	GPathogenic
Select item 154368	GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1	ADTRP, ATXN1 +617 more	Copy number loss	See cases	GPathogenic
Select item 154343	GRCh38/hg38 6p24.2-23(chr6:10601499-13987316)x1	ADTRP, C6orf52 +154 more	Copy number loss	See cases	GPathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	ADTRP, ATXN1 +779 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 146907	GRCh38/hg38 6p24.1-22.3(chr6:13311519-16295560)x3	CD83, DTNBP1 +177 more	Copy number gain	See cases	GPathogenic
Select item 59498	GRCh38/hg38 6p24.1-23(chr6:13232395-13805149)x3	GFOD1, GFOD1-AS1 +45 more	Copy number gain	See cases	GUncertain significance
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +825 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 44