ClinVar for Gene (Select 83759) - ClinVar

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Links from Gene

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 2481447	NM_031492.4(RBM4B):c.308C>A (p.Pro103Gln)	RBM4B (P103Q)	Single nucleotide variant (missense variant)	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 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	FADD-related immunodeficiency +1 more	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 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 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 2385764	NM_031492.4(RBM4B):c.*10-356A>G	RBM4, RBM4B (I164T)	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 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 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 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 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 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 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 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 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 2260483	NM_031492.4(RBM4B):c.*10-332T>C	RBM4, RBM4B (Y156C)	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 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
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

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Links from Gene

Items: 45