RPP38[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	LOC130003185, LOC130003186 +680 more	Copy number loss	See cases	GPathogenic
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	LINC00700, LINC00701 +837 more	Copy number gain	See cases	GPathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	LOC130003254, LOC130003255 +1221 more	Copy number gain	See cases	GBenign
Select item 58717	GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1	LOC130003217, LOC130003218 +482 more	Copy number loss	See cases	GPathogenic
Select item 148232	GRCh38/hg38 10p14-12.31(chr10:7428770-21587752)x1	ACBD7, ACBD7-DCLRE1CP1 +388 more	Copy number loss	See cases	GPathogenic
Select item 59663	GRCh38/hg38 10p13(chr10:14844417-15150430)x3	RPP38-DT, SUV39H2 +23 more	Copy number gain	See cases	GPathogenic
Select item 2307074	NM_183005.5(RPP38):c.29G>A (p.Arg10Gln)	RPP38 (R10Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272393	NM_183005.5(RPP38):c.46A>G (p.Thr16Ala)	RPP38 (T16A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156150	NM_183005.5(RPP38):c.75G>C (p.Leu25Phe)	RPP38 (L25F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304244	NM_183005.5(RPP38):c.102C>A (p.Ser34Arg)	RPP38 (S34R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240206	NM_183005.5(RPP38):c.115G>A (p.Glu39Lys)	RPP38 (E39K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477833	NM_183005.5(RPP38):c.127T>G (p.Phe43Val)	RPP38 (F43V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282389	NM_183005.5(RPP38):c.230G>A (p.Arg77Lys)	RPP38 (R77K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331234	NM_183005.5(RPP38):c.290C>G (p.Ala97Gly)	RPP38 (A97G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2287752	NM_183005.5(RPP38):c.292A>C (p.Lys98Gln)	RPP38 (K98Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156148	NM_183005.5(RPP38):c.302T>C (p.Val101Ala)	RPP38 (V101A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3156149	NM_183005.5(RPP38):c.382G>A (p.Glu128Lys)	RPP38 (E128K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298355	NM_183005.5(RPP38):c.400G>T (p.Val134Leu)	RPP38 (V134L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301003	NM_183005.5(RPP38):c.421G>A (p.Ala141Thr)	RPP38 (A141T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333149	NM_183005.5(RPP38):c.447G>T (p.Gln149His)	RPP38 (Q149H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222153	NM_183005.5(RPP38):c.450A>T (p.Leu150Phe)	RPP38 (L150F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463349	NM_183005.5(RPP38):c.487C>T (p.Arg163Trp)	RPP38 (R163W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256841	NM_183005.5(RPP38):c.497A>G (p.Glu166Gly)	RPP38 (E166G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356806	NM_183005.5(RPP38):c.511G>A (p.Val171Ile)	RPP38 (V171I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477607	NM_183005.5(RPP38):c.746G>C (p.Gly249Ala)	RPP38 (G249A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768349	NM_183005.5(RPP38):c.766T>C (p.Leu256=)	RPP38	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3156151	NM_183005.5(RPP38):c.837A>T (p.Lys279Asn)	RPP38 (K279N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527577	GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521)	ABI1, ACBD5 +111 more	Copy number gain	not specified	GPathogenic
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ACBD7, ABI1 +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 1047870	GRCh37/hg19 10p14-13(chr10:9137489-17227168)	ACBD7, BEND7 +36 more	Copy number loss	Neurodevelopmental delay	GPathogenic
Select item 687391	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	ACBD7, ADARB2 +68 more	Copy number gain	not provided	GPathogenic
Select item 687363	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	WDR37, ZMYND11 +68 more	Copy number gain	not provided	GPathogenic
Select item 599307	Single allele	ITIH2, ITIH5 +72 more	Deletion	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	NFKB2, NHLRC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ANXA8L1 +723 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 40