RANBP9[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	LINC02522, LINC02525 +823 more	Copy number gain	See cases	GPathogenic
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC132089500, LOC132090749 +641 more	Copy number gain	See cases	GPathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	LOC129995714, LOC129995715 +777 more	Copy number gain	See cases	GPathogenic
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	LOC129995520, LOC129995521 +610 more	Copy number loss	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 154368	GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1	LOC129389446, LOC129389447 +617 more	Copy number loss	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	LOC129995913, LOC129995914 +1340 more	Copy number gain	See cases	GPathogenic
Select item 154343	GRCh38/hg38 6p24.2-23(chr6:10601499-13987316)x1	ELOVL2-AS1, ERVFRD-1 +154 more	Copy number loss	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 146907	GRCh38/hg38 6p24.1-22.3(chr6:13311519-16295560)x3	CD83, DTNBP1 +177 more	Copy number gain	See cases	GPathogenic
Select item 2205735	NM_005493.3(RANBP9):c.2180A>G (p.Tyr727Cys)	NOL7, RANBP9 (Y727C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2383706	NM_005493.3(RANBP9):c.2138G>A (p.Arg713Gln)	NOL7, RANBP9 (R713Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2610103	NM_005493.3(RANBP9):c.1920G>C (p.Lys640Asn)	NOL7, RANBP9 (K640N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2238156	NM_005493.3(RANBP9):c.1883A>G (p.Gln628Arg)	NOL7, RANBP9 (Q628R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2513306	NM_005493.3(RANBP9):c.1864C>A (p.His622Asn)	NOL7, RANBP9 (H622N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2290659	NM_005493.3(RANBP9):c.1778A>C (p.Asp593Ala)	RANBP9 (D593A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403670	NM_005493.3(RANBP9):c.1604C>G (p.Ser535Cys)	RANBP9 (S535C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396789	NM_005493.3(RANBP9):c.1493C>T (p.Ala498Val)	RANBP9 (A498V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402503	NM_005493.3(RANBP9):c.1436G>A (p.Arg479Gln)	RANBP9 (R479Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520666	NM_005493.3(RANBP9):c.994C>T (p.His332Tyr)	RANBP9 (H332Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 773938	NM_005493.3(RANBP9):c.905-8C>T	RANBP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2295277	NM_005493.3(RANBP9):c.896A>G (p.His299Arg)	RANBP9 (H299R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235945	NM_005493.3(RANBP9):c.479A>C (p.Glu160Ala)	RANBP9 (E160A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458778	NM_005493.3(RANBP9):c.400C>T (p.Pro134Ser)	RANBP9 (P134S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2656244	NM_005493.3(RANBP9):c.396C>G (p.Pro132=)	RANBP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2609720	NM_005493.3(RANBP9):c.385G>C (p.Ala129Pro)	RANBP9 (A129P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410245	NM_005493.3(RANBP9):c.358A>C (p.Thr120Pro)	RANBP9 (T120P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347595	NM_005493.3(RANBP9):c.356C>T (p.Pro119Leu)	RANBP9 (P119L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225825	NM_005493.3(RANBP9):c.304C>T (p.Pro102Ser)	LOC129995826, RANBP9 (P102S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464204	NM_005493.3(RANBP9):c.293C>T (p.Pro98Leu)	RANBP9 (P98L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231245	NM_005493.3(RANBP9):c.290C>T (p.Ala97Val)	RANBP9 (A97V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487546	NM_005493.3(RANBP9):c.278C>T (p.Ala93Val)	RANBP9 (A93V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364536	NM_005493.3(RANBP9):c.275C>T (p.Pro92Leu)	RANBP9 (P92L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385357	NM_005493.3(RANBP9):c.274C>T (p.Pro92Ser)	RANBP9 (P92S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600565	NM_005493.3(RANBP9):c.244C>T (p.Pro82Ser)	RANBP9 (P82S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475242	NM_005493.3(RANBP9):c.227C>T (p.Pro76Leu)	RANBP9 (P76L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328323	NM_005493.3(RANBP9):c.209A>C (p.His70Pro)	LOC129995827, RANBP9 (H70P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404119	NM_005493.3(RANBP9):c.151C>T (p.Pro51Ser)	LOC129995827, RANBP9 (P51S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315345	NM_005493.3(RANBP9):c.143C>G (p.Ala48Gly)	LOC129995827, RANBP9 (A48G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347748	NM_005493.3(RANBP9):c.142G>A (p.Ala48Thr)	LOC129995827, RANBP9 (A48T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389051	NM_005493.3(RANBP9):c.122T>G (p.Val41Gly)	LOC129995827, RANBP9 (V41G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258181	NM_005493.3(RANBP9):c.101T>G (p.Val34Gly)	LOC129995827, RANBP9 (V34G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310560	NM_005493.3(RANBP9):c.100G>C (p.Val34Leu)	LOC129995827, RANBP9 (V34L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409731	NM_005493.3(RANBP9):c.85C>T (p.Pro29Ser)	RANBP9 (P29S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 442457	GRCh37/hg19 6p23-22.3(chr6:13693852-24225515)x1	ATXN1, CAP2 +27 more	Copy number loss	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

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Items: 60