RBM22[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic
Select item 2339612	NM_018047.3(RBM22):c.1244G>C (p.Gly415Ala)	RBM22 (G415A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619695	NM_018047.3(RBM22):c.1171C>G (p.Pro391Ala)	RBM22 (P391A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773937	NM_018047.3(RBM22):c.1170C>G (p.Pro390=)	RBM22	Single nucleotide variant (synonymous variant)	RBM22-related disorder +1 more	GBenign
Select item 2475083	NM_018047.3(RBM22):c.1144C>T (p.His382Tyr)	RBM22 (H382Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291904	NM_018047.3(RBM22):c.1087A>G (p.Ile363Val)	RBM22 (I363V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152256	NM_018047.3(RBM22):c.1063A>G (p.Ser355Gly)	RBM22 (S355G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152255	NM_018047.3(RBM22):c.1058C>T (p.Pro353Leu)	RBM22 (P353L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152258	NM_018047.3(RBM22):c.782T>C (p.Ile261Thr)	RBM22 (I261T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596767	NM_018047.3(RBM22):c.779C>T (p.Thr260Met)	RBM22 (T260M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551281	NM_018047.3(RBM22):c.753T>G (p.His251Gln)	RBM22 (H251Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541497	NM_018047.3(RBM22):c.554A>C (p.Lys185Thr)	RBM22 (K185T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555867	NM_018047.3(RBM22):c.377C>A (p.Ser126Tyr)	RBM22 (S126Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224164	NM_018047.3(RBM22):c.319A>G (p.Met107Val)	RBM22 (M107V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152257	NM_018047.3(RBM22):c.295G>A (p.Ala99Thr)	RBM22 (A99T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051146	NM_018047.3(RBM22):c.-8C>T	RBM22	Single nucleotide variant (5 prime UTR variant)	RBM22-related disorder	GLikely benign
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	AFAP1L1, AFF4 +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

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Items: 26