RBM4B[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	GAL3ST3, GPR152 +282 more	Copy number loss	See cases	GPathogenic
Select item 59757	GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3	ACTN3, ACY3 +212 more	Copy number gain	See cases	GPathogenic
Select item 2260483	NM_001198844.2(RBM4):c.467A>G (p.Tyr156Cys)	RBM4, RBM4B (Y156C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385764	NM_001198844.2(RBM4):c.491T>C (p.Ile164Thr)	RBM4, RBM4B (I164T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387237	NM_031492.4(RBM4B):c.1064G>A (p.Arg355Gln)	RBM4B (R355Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313306	NM_031492.4(RBM4B):c.1063C>T (p.Arg355Trp)	RBM4B (R355W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512141	NM_031492.4(RBM4B):c.1040G>A (p.Arg347Gln)	RBM4B (R347Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279633	NM_031492.4(RBM4B):c.1039C>T (p.Arg347Trp)	RBM4B (R347W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355019	NM_031492.4(RBM4B):c.1031G>A (p.Arg344Gln)	RBM4B (R344Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301383	NM_031492.4(RBM4B):c.1004C>T (p.Thr335Ile)	RBM4B (T335I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349844	NM_031492.4(RBM4B):c.997G>A (p.Ala333Thr)	RBM4B (A333T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280130	NM_031492.4(RBM4B):c.977G>A (p.Ser326Asn)	RBM4B (S326N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152433	NM_031492.4(RBM4B):c.961G>A (p.Gly321Ser)	RBM4B (G321S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391164	NM_031492.4(RBM4B):c.923G>T (p.Arg308Leu)	RBM4B (R308L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604368	NM_031492.4(RBM4B):c.896A>G (p.Tyr299Cys)	RBM4B (Y299C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599118	NM_031492.4(RBM4B):c.827T>C (p.Leu276Ser)	RBM4B (L276S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313305	NM_031492.4(RBM4B):c.807T>A (p.Asp269Glu)	RBM4B (D269E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264237	NM_031492.4(RBM4B):c.786C>G (p.His262Gln)	RBM4B (H262Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400125	NM_031492.4(RBM4B):c.772A>G (p.Thr258Ala)	RBM4B (T258A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2311601	NM_031492.4(RBM4B):c.763C>G (p.Gln255Glu)	RBM4B (Q255E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152432	NM_031492.4(RBM4B):c.724A>G (p.Asn242Asp)	RBM4B (N242D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468074	NM_031492.4(RBM4B):c.704C>T (p.Ala235Val)	RBM4B (A235V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152430	NM_031492.4(RBM4B):c.692C>T (p.Ala231Val)	RBM4B (A231V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152429	NM_031492.4(RBM4B):c.685T>C (p.Tyr229His)	RBM4B (Y229H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220889	NM_031492.4(RBM4B):c.662A>G (p.Tyr221Cys)	RBM4B (Y221C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220157	NM_031492.4(RBM4B):c.608T>C (p.Met203Thr)	RBM4B (M203T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152428	NM_031492.4(RBM4B):c.571A>G (p.Asn191Asp)	RBM4B (N191D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333878	NM_031492.4(RBM4B):c.562G>A (p.Glu188Lys)	RBM4B (E188K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152427	NM_031492.4(RBM4B):c.446G>A (p.Arg149Gln)	RBM4B (R149Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368150	NM_031492.4(RBM4B):c.335A>G (p.Asp112Gly)	RBM4B (D112G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481447	NM_031492.4(RBM4B):c.308C>A (p.Pro103Gln)	RBM4B (P103Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152426	NM_031492.4(RBM4B):c.274C>G (p.Gln92Glu)	RBM4B (Q92E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152425	NM_031492.4(RBM4B):c.149A>G (p.Asp50Gly)	RBM4B (D50G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 1879220	GRCh37/hg19 11q13.2(chr11:66178392-66433436)x3	ACTN3, BBS1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1340579	GRCh37/hg19 11q13.2(chr11:65963737-66581485)x1	ACTN3, B4GAT1 +25 more	Copy number loss	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 625593	GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402)	ACTN3, ACY3 +94 more	Copy number gain	not provided	GPathogenic
Select item 443398	GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3	ACTN3, ANKRD13D +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 253811	GRCh37/hg19 11q13.2(chr11:66024774-67430781)x3	ACTN3, ACY3 +57 more	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 45