RPP40[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +823 more	Copy number gain	See cases	GPathogenic
Select item 58125	GRCh38/hg38 6p25.3-25.1(chr6:144957-5239181)x3	BPHL, C6orf201 +279 more	Copy number gain	See cases	GPathogenic
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC129995555, LOC129995556 +641 more	Copy number gain	See cases	GPathogenic
Select item 154849	GRCh38/hg38 6p25.3-25.1(chr6:152634-6289804)x1	BPHL, C6orf201 +312 more	Copy number loss	See cases	GPathogenic
Select item 149755	GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x1	BPHL, C6orf201 +307 more	Copy number loss	See cases	GPathogenic
Select item 149754	GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x3	BPHL, C6orf201 +307 more	Copy number gain	See cases	GLikely pathogenic
Select item 148422	GRCh38/hg38 6p25.3-25.1(chr6:152634-5315679)x1	BPHL, C6orf201 +287 more	Copy number loss	See cases	GPathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	LOC129995829, LOC129995830 +777 more	Copy number gain	See cases	GPathogenic
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	ADTRP, BLOC1S5 +610 more	Copy number loss	See cases	GPathogenic
Select item 155631	GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3	LOC129995745, LOC129995746 +557 more	Copy number gain	See cases	GLikely pathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ANKRD66, C6orf201 +2580 more	Copy number gain	See cases	GPathogenic
Select item 154194	GRCh38/hg38 6p25.3-24.3(chr6:156974-7122759)x1	BPHL, C6orf201 +345 more	Copy number loss	See cases	GPathogenic
Select item 154190	GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3	LOC132090751, LOC132090752 +508 more	Copy number gain	See cases	GLikely pathogenic
Select item 147369	GRCh38/hg38 6p25.3-24.3(chr6:163083-9525496)x3	LOC132089486, LOC132089487 +435 more	Copy number gain	See cases	GPathogenic
Select item 58407	GRCh38/hg38 6p25.3-25.1(chr6:163083-5875402)x1	BPHL, C6orf201 +301 more	Copy number loss	See cases	GPathogenic
Select item 57077	GRCh38/hg38 6p25.3-25.1(chr6:163083-6062800)x1	LOC126859561, LOC126859562 +305 more	Copy number loss	See cases	GPathogenic
Select item 144540	GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3	SERPINB9-AS1, SLC22A23 +571 more	Copy number gain	See cases	GPathogenic
Select item 58410	GRCh38/hg38 6p25.3-25.1(chr6:164633-5823601)x1	BPHL, C6orf201 +300 more	Copy number loss	See cases	GPathogenic
Select item 58409	GRCh38/hg38 6p25.3-25.1(chr6:164633-6284237)x1	BPHL, C6orf201 +310 more	Copy number loss	See cases	GPathogenic
Select item 58411	GRCh38/hg38 6p25.3-24.3(chr6:165675-9036034)x1	BLOC1S5, BLOC1S5-TXNDC5 +431 more	Copy number loss	See cases	GPathogenic
Select item 58150	GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3	LOC126859578, LOC126859579 +536 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 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 146906	GRCh38/hg38 6p25.2-24.1(chr6:4068792-13267799)x1	LOC129995677, LOC129995678 +331 more	Copy number loss	See cases	GPathogenic
Select item 58423	GRCh38/hg38 6p25.1-24.3(chr6:4427090-8391140)x1	BLOC1S5, BLOC1S5-TXNDC5 +159 more	Copy number loss	See cases	GPathogenic
Select item 3156158	NM_006638.4(RPP40):c.995G>A (p.Arg332Gln)	RPP40 (R332Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2399020	NM_006638.4(RPP40):c.919G>C (p.Ala307Pro)	RPP40 (A307P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380807	NM_006638.4(RPP40):c.841A>G (p.Ile281Val)	RPP40 (I239V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156156	NM_006638.4(RPP40):c.739G>A (p.Val247Ile)	RPP40 (V224I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156155	NM_006638.4(RPP40):c.706C>G (p.Arg236Gly)	RPP40 (R236G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156154	NM_006638.4(RPP40):c.672C>A (p.Ser224Arg)	RPP40 (S182R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375887	NM_006638.4(RPP40):c.636C>A (p.Ser212Arg)	RPP40 (S170R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275329	NM_006638.4(RPP40):c.485A>G (p.Tyr162Cys)	RPP40 (Y162C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349324	NM_006638.4(RPP40):c.424A>G (p.Met142Val)	RPP40 (M119V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156153	NM_006638.4(RPP40):c.265A>G (p.Lys89Glu)	RPP40 (K89E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311426	NM_006638.4(RPP40):c.250A>C (p.Ser84Arg)	RPP40 (S84R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401883	NM_006638.4(RPP40):c.187A>G (p.Thr63Ala)	RPP40 (T63A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156157	NM_006638.4(RPP40):c.88C>G (p.Arg30Gly)	LYRM4-AS1, RPP40 (R30G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2302174	NM_006638.4(RPP40):c.10C>G (p.Leu4Val)	LYRM4-AS1, RPP40 (L4V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 979724	GRCh37/hg19 6p25.1(chr6:4815620-5304909)x3	LYRM4, RPP40 +3 more	Copy number gain	not provided	GUncertain significance
Select item 689000	GRCh37/hg19 6p25.1(chr6:4958487-5127735)x4	LYRM4, PPP1R3G +1 more	Copy number gain	not provided	GUncertain significance
Select item 687753	GRCh37/hg19 6p25.1(chr6:4812509-5158081)x4	PPP1R3G, CDYL +2 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 563149	GRCh37/hg19 6p25.1-24.3(chr6:4990661-10358695)x1	BLOC1S5, BMP6 +17 more	Copy number loss	not provided	GPathogenic
Select item 563148	GRCh37/hg19 6p25.1(chr6:4920229-5624099)x3	PPP1R3G, CDYL +3 more	Copy number gain	not provided	GLikely benign
Select item 563144	GRCh37/hg19 6p25.3-24.3(chr6:1860928-8884071)x3	BLOC1S5, BMP6 +38 more	Copy number gain	not provided	GLikely pathogenic
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 563139	GRCh37/hg19 6p25.3-23(chr6:156974-13502033)x3	ADTRP, BLOC1S5 +66 more	Copy number gain	not provided	GPathogenic
Select item 560067	Single allele	ADTRP, ATXN1 +95 more	Duplication	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442393	GRCh37/hg19 6p25.3-25.1(chr6:156974-6417749)x1	BPHL, C6orf201 +33 more	Copy number loss	See cases	GPathogenic
Select item 442239	GRCh37/hg19 6p25.1(chr6:4338840-5164497)x3	CDYL, KU-MEL-3 +3 more	Copy number gain	See cases	GUncertain significance
Select item 442040	GRCh37/hg19 6p25.3-25.1(chr6:2109893-5962832)x1	PXDC1, RIPK1 +24 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 253511	GRCh37/hg19 6p25.3-24.1(chr6:204009-11608587)x1	BLOC1S5, BMP6 +60 more	Copy number loss	See cases	GPathogenic
Select item 253456	GRCh37/hg19 6p25.3-25.1(chr6:204009-6447311)x1	PPP1R3G, BPHL +33 more	Copy number loss	See cases	GPathogenic

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Items: 59