RBM39[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 153447	GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3	ACSS2, ACTL10 +254 more	Copy number gain	See cases	GPathogenic
Select item 146117	GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1	AAR2, ACSS2 +214 more	Copy number loss	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 152798	GRCh38/hg38 20q11.22(chr20:35285724-35744837)x1	C20orf173, CEP250 +35 more	Copy number loss	See cases	GPathogenic
Select item 2541555	NM_184234.3(RBM39):c.1557G>A (p.Met519Ile)	RBM39 (M491I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349680	NM_184234.3(RBM39):c.1555A>G (p.Met519Val)	RBM39 (M491V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152346	NM_184234.3(RBM39):c.1504A>G (p.Thr502Ala)	RBM39 (T480A +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313280	NM_184234.3(RBM39):c.730A>G (p.Lys244Glu)	RBM39 (K244E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152350	NM_184234.3(RBM39):c.566A>G (p.Asn189Ser)	RBM39 (N188S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152347	NM_184234.3(RBM39):c.401A>G (p.Asp134Gly)	RBM39 (D134G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2455510	NM_184234.3(RBM39):c.340T>G (p.Leu114Val)	RBM39 (L114V)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3313279	NM_184234.3(RBM39):c.247C>T (p.Arg83Cys)	RBM39 (R83C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2496478	NM_184234.3(RBM39):c.224G>A (p.Arg75Lys)	RBM39 (R75K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2588074	NM_184234.3(RBM39):c.218G>A (p.Arg73Gln)	RBM39 (R73Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2525585	NM_184234.3(RBM39):c.206G>A (p.Arg69His)	RBM39 (R69H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3152349	NM_184234.3(RBM39):c.53A>G (p.Asp18Gly)	RBM39 (D18G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3152348	NM_184234.3(RBM39):c.47A>G (p.Lys16Arg)	RBM39 (K16R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1809278	GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3	AAR2, ACSS2 +98 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808687	GRCh37/hg19 20q11.21-11.23(chr20:29833535-34815537)x3	ACSS2, ACTL10 +86 more	Copy number gain	not provided	GLikely pathogenic
Select item 689044	GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3	AAR2, ACSS2 +88 more	Copy number gain	not provided	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic

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Items: 24