RBBP5[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 545154	NC_000001.11:g.(?_204033173)_(208209798_?)del	LOC129932391, PIK3C2B +278 more	Deletion	Autism	GLikely pathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 3152049	NM_005057.4(RBBP5):c.1373A>T (p.Glu458Val)	RBBP5 (E331V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487479	NM_005057.4(RBBP5):c.1312A>G (p.Arg438Gly)	RBBP5 (R311G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367708	NM_005057.4(RBBP5):c.1259C>T (p.Pro420Leu)	RBBP5 (P293L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479400	NM_005057.4(RBBP5):c.622C>T (p.Arg208Trp)	RBBP5 (R81W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267075	NM_005057.4(RBBP5):c.592A>G (p.Thr198Ala)	RBBP5 (T198A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719895	NM_005057.4(RBBP5):c.438G>A (p.Pro146=)	RBBP5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3152050	NM_005057.4(RBBP5):c.400A>G (p.Met134Val)	RBBP5 (M7V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278990	NM_005057.4(RBBP5):c.121G>A (p.Val41Ile)	RBBP5 (V41I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	ADIPOR1, ADORA1 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	ADIPOR1, ADORA1 +110 more	Duplication	not provided	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CD34, MDM4 +145 more	Copy number gain	not provided	Gnot provided
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 814156	GRCh37/hg19 1q32.1(chr1:204954317-205346803)x1	KLHDC8A, NUAK2 +6 more	Copy number loss	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 523270	GRCh37/hg19 1q32.1-32.3(chr1:204682513-212815646)	CAMK1G, CD34 +75 more	Copy number loss	Global developmental delay +2 more	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

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Items: 26