RBMS3[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 2314236	NM_001003793.3(RBMS3):c.41A>G (p.Tyr14Cys)	RBMS3 (Y14C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152487	NM_001003793.3(RBMS3):c.55C>T (p.Pro19Ser)	RBMS3 (P19S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231765	NM_001003793.3(RBMS3):c.119C>T (p.Pro40Leu)	RBMS3 (P40L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281336	NM_001003793.3(RBMS3):c.156C>G (p.Asn52Lys)	RBMS3 (N51K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511212	NM_001003793.3(RBMS3):c.193A>G (p.Ile65Val)	RBMS3 (I65V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152483	NM_001003793.3(RBMS3):c.218C>G (p.Thr73Ser)	RBMS3 (T72S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152484	NM_001003793.3(RBMS3):c.223C>A (p.Gln75Lys)	RBMS3 (Q74K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152485	NM_001003793.3(RBMS3):c.232A>G (p.Ile78Val)	RBMS3 (I78V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356025	NM_001003793.3(RBMS3):c.233T>A (p.Ile78Asn)	RBMS3 (I78N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246310	NM_001003793.3(RBMS3):c.503C>G (p.Ser168Cys)	RBMS3 (S167C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777963	NM_001003793.3(RBMS3):c.516A>G (p.Leu172=)	RBMS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3152486	NM_001003793.3(RBMS3):c.523G>A (p.Ala175Thr)	RBMS3 (A175T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770884	NM_001003793.3(RBMS3):c.558-6T>A	RBMS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2298511	NM_001003793.3(RBMS3):c.566C>G (p.Ser189Cys)	RBMS3 (S188C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780379	NM_001003793.3(RBMS3):c.597T>C (p.His199=)	RBMS3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3152488	NM_001003793.3(RBMS3):c.610T>C (p.Tyr204His)	RBMS3 (Y203H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736820	NM_001003793.3(RBMS3):c.791+7A>G	RBMS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 727793	NM_001003793.3(RBMS3):c.807G>A (p.Pro269=)	RBMS3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3152489	NM_001003793.3(RBMS3):c.826C>T (p.Arg276Cys)	RBMS3 (R275C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335054	NM_001003793.3(RBMS3):c.906G>T (p.Trp302Cys)	RBMS3 (W301C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 722575	NM_001003793.3(RBMS3):c.940-7C>T	RBMS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 754613	NM_001003793.3(RBMS3):c.960C>T (p.Thr320=)	RBMS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2495376	NM_001003793.3(RBMS3):c.977C>T (p.Ser326Leu)	RBMS3 (S339L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313333	NM_001003793.3(RBMS3):c.994A>G (p.Met332Val)	RBMS3 (M331V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309928	NM_001003793.3(RBMS3):c.1037G>A (p.Gly346Asp)	RBMS3 (G328D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247836	NM_001003793.3(RBMS3):c.1046G>A (p.Gly349Glu)	RBMS3 (G348E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351922	NM_001003793.3(RBMS3):c.1049C>T (p.Thr350Met)	RBMS3 (T332M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711364	NM_001003793.3(RBMS3):c.1099-3T>C	RBMS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2553182	NM_001003793.3(RBMS3):c.1124A>C (p.Gln375Pro)	RBMS3 (Q359P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747128	NM_001003793.3(RBMS3):c.1161G>A (p.Pro387=)	RBMS3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3152479	NM_001003793.3(RBMS3):c.1258G>C (p.Val420Leu)	RBMS3 (V404L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313332	NM_001003793.3(RBMS3):c.1261G>A (p.Asp421Asn)	RBMS3 (D405N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152480	NM_001003793.3(RBMS3):c.1277A>G (p.His426Arg)	RBMS3 (H423R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152482	NM_001003793.3(RBMS3):c.1304C>G (p.Ser435Cys)	RBMS3 (S434C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 1527002	GRCh37/hg19 3p24.2-22.3(chr3:25045365-32691140)	AZI2, CMC1 +20 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1455527	NC_000003.11:g.(?_16710965)_(41275270_?)del	ACAA1, ACVR2B +93 more	Deletion	not provided	GPathogenic
Select item 814430	GRCh37/hg19 3p24.2-24.1(chr3:25901794-29520717)x1	AZI2, EOMES +6 more	Copy number loss	not provided	GUncertain significance
Select item 562760	GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	ABHD5, ACAA1 +135 more	Copy number gain	not provided	GPathogenic
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	ANKRD28, APRG1 +155 more	Copy number gain	See cases	GPathogenic
Select item 442717	GRCh37/hg19 3p24.1(chr3:29643068-29808209)x1	RBMS3	Copy number loss	See cases	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 441705	GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	TRIM71, TRNT1 +145 more	Copy number gain	See cases	GPathogenic
Select item 253599	GRCh37/hg19 3p24.1-22.3(chr3:29689082-34233218)x1	CCR4, CLASP2 +20 more	Copy number loss	See cases	GPathogenic

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Items: 51