RBM23[gene] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
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 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	ABHD4, ACIN1 +399 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 152232	GRCh38/hg38 14q11.2(chr14:21010790-22951814)x3	ABHD4, ARHGEF40 +242 more	Copy number gain	See cases	GUncertain significance
Select item 2558539	NM_001077351.2(RBM23):c.1297C>T (p.Leu433Phe)	RBM23 (L477F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152259	NM_001077351.2(RBM23):c.1259C>T (p.Ala420Val)	RBM23 (A250V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289944	NM_001077351.2(RBM23):c.1220G>A (p.Gly407Glu)	RBM23 (G237E +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2224172	NM_001077351.2(RBM23):c.1037G>T (p.Gly346Val)	RBM23 (G330V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313248	NM_001077351.2(RBM23):c.1022A>C (p.Glu341Ala)	RBM23 (E171A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248250	NM_001077351.2(RBM23):c.1004G>C (p.Arg335Thr)	RBM23 (R379T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508684	NM_001077351.2(RBM23):c.975T>G (p.Asn325Lys)	RBM23 (N291K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569549	NM_001077351.2(RBM23):c.955C>T (p.Arg319Trp)	RBM23 (R319W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338945	NM_001077351.2(RBM23):c.905G>A (p.Arg302His)	RBM23 (R132H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403219	NM_001077351.2(RBM23):c.904C>T (p.Arg302Cys)	RBM23 (R286C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538998	NM_001077351.2(RBM23):c.899C>T (p.Thr300Ile)	RBM23 (T284I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277629	NM_001077351.2(RBM23):c.863A>G (p.Lys288Arg)	RBM23 (K118R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402388	NM_001077351.2(RBM23):c.776A>G (p.Asn259Ser)	RBM23 (N243S +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3152267	NM_001077351.2(RBM23):c.755C>G (p.Ala252Gly)	RBM23 (A296G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462686	NM_001077351.2(RBM23):c.752T>A (p.Met251Lys)	RBM23 (M217K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313246	NM_001077351.2(RBM23):c.709A>G (p.Ile237Val)	RBM23 (I221V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261504	NM_001077351.2(RBM23):c.661C>G (p.Pro221Ala)	RBM23 (P187A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152266	NM_001077351.2(RBM23):c.589A>G (p.Ile197Val)	RBM23 (I181V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343090	NM_001077351.2(RBM23):c.580G>A (p.Asp194Asn)	RBM23 (D24N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469696	NM_001077351.2(RBM23):c.539G>A (p.Arg180Gln)	RBM23 (R180Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152265	NM_001077351.2(RBM23):c.533G>A (p.Arg178Gln)	RBM23 (R162Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152264	NM_001077351.2(RBM23):c.493G>T (p.Ala165Ser)	RBM23 (A149S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468972	NM_001077351.2(RBM23):c.488G>A (p.Arg163His)	RBM23 (R163H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313247	NM_001077351.2(RBM23):c.359G>A (p.Arg120His)	RBM23 (R104H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2367304	NM_001077351.2(RBM23):c.358C>T (p.Arg120Cys)	RBM23 (R104C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328617	NM_001077351.2(RBM23):c.355C>T (p.Arg119Cys)	RBM23 (R163C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313245	NM_001077351.2(RBM23):c.346C>T (p.Arg116Trp)	RBM23 (R100W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152263	NM_001077351.2(RBM23):c.341G>A (p.Arg114Gln)	RBM23 (R98Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622857	NM_001077351.2(RBM23):c.326A>C (p.His109Pro)	RBM23 (H93P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152262	NM_001077351.2(RBM23):c.323G>A (p.Arg108Gln)	RBM23 (R92Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616294	NM_001077351.2(RBM23):c.313T>C (p.Trp105Arg)	RBM23 (W149R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217732	NM_001077351.2(RBM23):c.302G>A (p.Arg101His)	RBM23 (R85H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547770	NM_001077351.2(RBM23):c.301C>T (p.Arg101Cys)	RBM23 (R101C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152260	NM_001077351.2(RBM23):c.248G>A (p.Arg83Gln)	RBM23 (R67Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533402	NM_001077351.2(RBM23):c.247C>T (p.Arg83Trp)	RBM23 (R67W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538006	NM_001077351.2(RBM23):c.223C>T (p.Arg75Cys)	RBM23 (R75C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476033	NM_001077351.2(RBM23):c.212G>T (p.Arg71Met)	RBM23 (R71M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226897	NM_001077351.2(RBM23):c.140A>G (p.Asn47Ser)	RBM23 (N47S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3313251	NM_001077351.2(RBM23):c.83A>C (p.Lys28Thr)	RBM23 (K72T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389284	NM_001077351.2(RBM23):c.68A>T (p.Asp23Val)	RBM23 (D67V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358476	NM_001077351.2(RBM23):c.64G>C (p.Glu22Gln)	RBM23 (E22Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152261	NM_001077351.2(RBM23):c.31G>A (p.Glu11Lys)	RBM23 (E55K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2423736	NC_000014.8:g.(?_23242819)_(25103366_?)dup	MRPL52, MYH6 +77 more	Duplication	Lysinuric protein intolerance +1 more	GUncertain significance
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 1326312	GRCh37/hg19 14q11.2(chr14:20925965-23649548)x3	PRMT5, PSMB11 +60 more	Copy number gain	14q11.2 microduplication	GLikely pathogenic
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 666446	GRCh37/hg19 14q11.2(chr14:21717093-24027220)x3	SLC22A17, SLC7A7 +47 more	Copy number gain	not provided	GLikely pathogenic
Select item 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	GPathogenic
Select item 564102	GRCh37/hg19 14q11.2(chr14:23240787-23468899)x1	SLC7A7, MMP14 +9 more	Copy number loss	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 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	OR5AU1, OR6S1 +164 more	Copy number gain	See cases	GPathogenic
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 more	Copy number gain	See cases	GPathogenic

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Items: 65