RBM43[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146076	GRCh38/hg38 2q22.3-24.1(chr2:143900149-158321624)x3	ACVR1, ACVR1C +238 more	Copy number gain	See cases	GPathogenic
Select item 154515	GRCh38/hg38 2q22.3-24.1(chr2:146324191-156219125)x3	ACVR2A, ARL5A +146 more	Copy number gain	See cases	GPathogenic
Select item 60216	GRCh38/hg38 2q22.3-24.1(chr2:147251948-157856378)x1	ACVR1, ACVR1C +189 more	Copy number loss	See cases	GPathogenic
Select item 60217	GRCh38/hg38 2q22.3-23.3(chr2:147590324-153496674)x1	ACVR2A, ARL5A +119 more	Copy number loss	See cases	GPathogenic
Select item 60219	GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)x1	ACVR1, ACVR1C +333 more	Copy number loss	See cases	GPathogenic
Select item 3152371	NM_198557.3(RBM43):c.1058G>T (p.Gly353Val)	RBM43 (G353V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376156	NM_198557.3(RBM43):c.953C>G (p.Ser318Trp)	RBM43 (S318W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227491	NM_198557.3(RBM43):c.854A>G (p.His285Arg)	RBM43 (H285R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400306	NM_198557.3(RBM43):c.808C>A (p.Pro270Thr)	RBM43 (P270T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152376	NM_198557.3(RBM43):c.725A>G (p.Lys242Arg)	RBM43 (K242R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532901	NM_198557.3(RBM43):c.710A>C (p.Tyr237Ser)	RBM43 (Y237S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322243	NM_198557.3(RBM43):c.707C>A (p.Ser236Tyr)	RBM43 (S236Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330895	NM_198557.3(RBM43):c.664C>T (p.Leu222Phe)	RBM43 (L222F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152374	NM_198557.3(RBM43):c.620G>A (p.Arg207Lys)	RBM43 (R207K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227785	NM_198557.3(RBM43):c.608T>C (p.Leu203Ser)	RBM43 (L203S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314738	NM_198557.3(RBM43):c.581G>A (p.Arg194Lys)	RBM43 (R194K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605181	NM_198557.3(RBM43):c.514T>C (p.Ser172Pro)	RBM43 (S172P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326344	NM_198557.3(RBM43):c.502G>A (p.Ala168Thr)	RBM43 (A168T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302470	NM_198557.3(RBM43):c.440A>G (p.Asn147Ser)	RBM43 (N147S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152373	NM_198557.3(RBM43):c.402A>T (p.Lys134Asn)	RBM43 (K134N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257970	NM_198557.3(RBM43):c.326C>G (p.Ser109Cys)	RBM43 (S109C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205651	NM_198557.3(RBM43):c.295G>A (p.Val99Ile)	RBM43 (V99I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152372	NM_198557.3(RBM43):c.191A>G (p.Tyr64Cys)	RBM43 (Y64C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338994	NM_198557.3(RBM43):c.155A>C (p.Asp52Ala)	RBM43 (D52A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373688	NM_198557.3(RBM43):c.134A>G (p.Asn45Ser)	RBM43 (N45S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595121	NM_198557.3(RBM43):c.35C>G (p.Ala12Gly)	RBM43 (A12G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062645	GRCh37/hg19 2q23.3(chr2:151626277-154149348)x1	ARL5A, ARL6IP6 +9 more	Copy number loss	not specified	GUncertain significance
Select item 2685866	GRCh37/hg19 2q23.3(chr2:152002316-152547824)x3	NEB, NMI +3 more	Copy number gain	not provided	GUncertain significance
Select item 2684742	GRCh37/hg19 2q22.3-23.3(chr2:148406827-152954124)x1	ACVR2A, ARL5A +13 more	Copy number loss	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526921	GRCh37/hg19 2q23.3(chr2:150606201-153038451)	ARL5A, CACNB4 +7 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526906	GRCh37/hg19 2q22.2-23.3(chr2:143258712-152867819)	ACVR2A, ARHGAP15 +17 more	Copy number loss	not specified	GPathogenic
Select item 1341063	GRCh37/hg19 2q22.2-23.3(chr2:142409401-152680804)x3	ACVR2A, ARHGAP15 +17 more	Copy number gain	not provided	GPathogenic
Select item 1047890	GRCh37/hg19 2q21.3-23.3(chr2:136473383-152727396)	ACVR2A, ARHGAP15 +28 more	Copy number gain	Global developmental delay +2 more	GPathogenic
Select item 814314	GRCh37/hg19 2q22.3-24.1(chr2:147173792-158346266)x1	ARL6IP6, CACNB4 +25 more	Copy number loss	not provided	GPathogenic
Select item 688056	GRCh37/hg19 2q23.3(chr2:152085642-152493987)x3	NEB, NMI +3 more	Copy number gain	not provided	GUncertain significance
Select item 562665	GRCh37/hg19 2q23.2-23.3(chr2:150134077-154848282)x1	ARL5A, ARL6IP6 +14 more	Copy number loss	not provided	GLikely pathogenic
Select item 562585	GRCh37/hg19 2q23.3(chr2:151708977-152157904)x3	NMI, RBM43	Copy number gain	not provided	GLikely benign
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 395440	GRCh37/hg19 2q23.1-23.3(chr2:148842506-152370040)x1	EPC2, LYPD6 +9 more	Copy number loss	See cases	GPathogenic
Select item 394785	GRCh37/hg19 2q23.3(chr2:152061163-152300138)x3	NMI, RBM43 +2 more	Copy number gain	See cases	GUncertain significance

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Items: 43