RBM25[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	SAMD15, SEL1L +503 more	Copy number loss	See cases	GPathogenic
Select item 58331	GRCh38/hg38 14q24.2-24.3(chr14:72886764-73367226)x3	DCAF4, DPF3 +23 more	Copy number gain	See cases	GUncertain significance
Select item 805975	NM_021239.3(RBM25):c.-16+6264dup	RBM25	Duplication (intron variant)	CIC-rearranged sarcoma	Gnot provided
Select item 3152272	NM_021239.3(RBM25):c.145C>T (p.Pro49Ser)	RBM25 (P49S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313253	NM_021239.3(RBM25):c.732T>G (p.Ile244Met)	RBM25 (I244M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480924	NM_021239.3(RBM25):c.1082G>A (p.Arg361Gln)	RBM25 (R361Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313252	NM_021239.3(RBM25):c.1144A>G (p.Ser382Gly)	RBM25 (S382G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387496	NM_021239.3(RBM25):c.1216G>C (p.Glu406Gln)	RBM25 (E406Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152271	NM_021239.3(RBM25):c.1321T>G (p.Tyr441Asp)	RBM25 (Y441D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622815	NM_021239.3(RBM25):c.1460G>C (p.Arg487Thr)	RBM25 (R487T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313254	NM_021239.3(RBM25):c.1567C>T (p.Arg523Cys)	RBM25 (R523C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152273	NM_021239.3(RBM25):c.1568G>A (p.Arg523His)	RBM25 (R523H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412549	NM_021239.3(RBM25):c.1729A>C (p.Ile577Leu)	RBM25 (I577L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480459	NM_021239.3(RBM25):c.1801A>G (p.Met601Val)	RBM25 (M601V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2272637	NM_021239.3(RBM25):c.1864T>C (p.Ser622Pro)	RBM25 (S622P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152274	NM_021239.3(RBM25):c.1879T>G (p.Ser627Ala)	RBM25 (S627A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588123	NM_021239.3(RBM25):c.1955A>G (p.Asn652Ser)	RBM25 (N652S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290187	NM_021239.3(RBM25):c.1985A>G (p.His662Arg)	RBM25 (H662R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325837	NM_021239.3(RBM25):c.2182A>C (p.Thr728Pro)	RBM25 (T728P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313255	NM_021239.3(RBM25):c.2525T>G (p.Val842Gly)	RBM25 (V842G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684734	GRCh37/hg19 14q24.2(chr14:73285307-73708676)x3	DCAF4, DPF3 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684733	GRCh37/hg19 14q24.2-24.3(chr14:72984321-73975604)x3	DCAF4, DPF3 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 1807977	GRCh37/hg19 14q24.2(chr14:73216923-73758752)x3	DCAF4, DPF3 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1340204	GRCh37/hg19 14q24.2(chr14:73336295-73666940)x3	DCAF4, DPF3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	ISCA2, TMEM30B +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 980610	GRCh37/hg19 14q24.2(chr14:73337224-73617867)x3	PSEN1, DPF3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 564112	GRCh37/hg19 14q24.2(chr14:73264012-73621110)x3	DPF3, PSEN1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 443425	GRCh37/hg19 14q24.1-24.2(chr14:68035240-73568130)x1	ACTN1, ADAM20 +34 more	Copy number loss	See cases	GLikely pathogenic
Select item 443123	GRCh37/hg19 14q24.2(chr14:73544397-73618080)x3	PSEN1, RBM25	Copy number gain	See cases	GUncertain significance
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 208506	GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582)	ACOT6, ACYP1 +59 more	Deletion	Multiple skeletal anomalies +3 more	GLikely pathogenic

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Items: 36