RBM47[gene] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	ABLIM2, ACOX3 +1209 more	Copy number gain	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148977	GRCh38/hg38 4p14-12(chr4:39444586-46117146)x3	APBB2, ATP8A1 +160 more	Copy number gain	See cases	GUncertain significance
Select item 3152415	NM_001098634.2(RBM47):c.1765G>T (p.Val589Phe)	LOC126807040, RBM47 (V520F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313923	NM_001098634.2(RBM47):c.1760C>T (p.Pro587Leu)	LOC126807040, RBM47 (P549L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593903	NM_001098634.2(RBM47):c.1732C>T (p.Pro578Ser)	LOC126807040, RBM47 (P509S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556701	NM_001098634.2(RBM47):c.1726G>A (p.Ala576Thr)	LOC126807040, RBM47 (A507T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354460	NM_001098634.2(RBM47):c.1674C>A (p.Asn558Lys)	LOC126807040, RBM47 (N520K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343849	NM_001098634.2(RBM47):c.1674C>G (p.Asn558Lys)	LOC126807040, RBM47 (N558K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306171	NM_001098634.2(RBM47):c.1610A>G (p.Tyr537Cys)	LOC126807040, RBM47 (Y499C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620386	NM_001098634.2(RBM47):c.1564T>C (p.Tyr522His)	LOC126807040, RBM47 (Y522H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259320	NM_001098634.2(RBM47):c.1552A>G (p.Ile518Val)	LOC126807040, RBM47 (I449V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460966	NM_001098634.2(RBM47):c.1526C>T (p.Thr509Met)	RBM47 (T509M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215492	NM_001098634.2(RBM47):c.1498G>A (p.Ala500Thr)	RBM47 (A462T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654737	NM_001098634.2(RBM47):c.1485_1496del (p.Ala499_Ala502del)	RBM47	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 2338839	NM_001098634.2(RBM47):c.1490C>T (p.Ala497Val)	RBM47 (A459V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152414	NM_001098634.2(RBM47):c.1484C>T (p.Ala495Val)	RBM47 (A495V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152413	NM_001098634.2(RBM47):c.1483G>A (p.Ala495Thr)	RBM47 (A495T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468687	NM_001098634.2(RBM47):c.1474G>A (p.Ala492Thr)	RBM47 (A492T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208890	NM_001098634.2(RBM47):c.1445T>C (p.Val482Ala)	RBM47 (V482A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395360	NM_001098634.2(RBM47):c.1438A>G (p.Ile480Val)	RBM47 (I480V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284201	NM_001098634.2(RBM47):c.1436C>A (p.Pro479His)	RBM47 (P479H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369288	NM_001098634.2(RBM47):c.1349G>C (p.Gly450Ala)	RBM47 (G450A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780461	NM_001098634.2(RBM47):c.1347T>C (p.Ile449=)	RBM47	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3152412	NM_001098634.2(RBM47):c.1346T>C (p.Ile449Thr)	RBM47 (I449T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475668	NM_001098634.2(RBM47):c.1346T>A (p.Ile449Asn)	RBM47 (I411N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400969	NM_001098634.2(RBM47):c.1300G>A (p.Val434Ile)	RBM47 (V396I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152411	NM_001098634.2(RBM47):c.1234C>A (p.His412Asn)	RBM47 (H374N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620178	NM_001098634.2(RBM47):c.1231T>C (p.Tyr411His)	RBM47 (Y411H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 769204	NM_001098634.2(RBM47):c.1212= (p.Gly404=)	RBM47	Variation (no sequence alteration +1 more)	not provided	GBenign
Select item 3152409	NM_001098634.2(RBM47):c.1018G>A (p.Ala340Thr)	RBM47 (A302T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464574	NM_001098634.2(RBM47):c.1007C>A (p.Ala336Glu)	RBM47 (A336E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620387	NM_001098634.2(RBM47):c.976C>T (p.Arg326Cys)	RBM47 (R326C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152418	NM_001098634.2(RBM47):c.910A>T (p.Thr304Ser)	RBM47 (T304S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492645	NM_001098634.2(RBM47):c.910A>G (p.Thr304Ala)	RBM47 (T266A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530281	NM_001098634.2(RBM47):c.905A>G (p.Asn302Ser)	RBM47 (N264S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152417	NM_001098634.2(RBM47):c.700G>A (p.Glu234Lys)	RBM47 (E196K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279936	NM_001098634.2(RBM47):c.659A>T (p.Gln220Leu)	RBM47 (Q220L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615205	NM_001098634.2(RBM47):c.607A>G (p.Ser203Gly)	RBM47 (S165G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152416	NM_001098634.2(RBM47):c.541G>T (p.Val181Leu)	RBM47 (V143L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341508	NM_001098634.2(RBM47):c.530G>A (p.Gly177Asp)	RBM47 (G177D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288590	NM_001098634.2(RBM47):c.509A>G (p.Glu170Gly)	RBM47 (E132G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607560	NM_001098634.2(RBM47):c.359A>T (p.His120Leu)	RBM47 (H120L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534521	NM_001098634.2(RBM47):c.277G>A (p.Ala93Thr)	RBM47 (A93T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2534520	NM_001098634.2(RBM47):c.189G>C (p.Glu63Asp)	RBM47 (E63D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512947	NM_001098634.2(RBM47):c.128G>A (p.Gly43Asp)	RBM47 (G43D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152410	NM_001098634.2(RBM47):c.113T>C (p.Leu38Pro)	RBM47 (L38P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521889	NM_001098634.2(RBM47):c.46G>T (p.Ala16Ser)	RBM47 (A16S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 145612	GRCh38/hg38 4p14-11(chr4:40496476-49579850)x3	APBB2, ATP10D +171 more	Copy number gain	See cases	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 2506554	GRCh37/hg19 4p14-13(chr4:40337485-41941400)	APBB2, CHRNA9 +6 more	Copy number loss	not provided	GPathogenic
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 1411128	NC_000004.11:g.(?_38765721)_(41750627_?)dup	N4BP2, SMIM14 +22 more	Duplication	Lipoic acid synthetase deficiency	GUncertain significance
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 562907	GRCh37/hg19 4p14(chr4:40203214-40657007)x1	RHOH, RBM47 +1 more	Copy number loss	not provided	GUncertain significance
Select item 562874	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	GABRA2, GABRA4 +226 more	Copy number gain	not provided	GPathogenic
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	AASDH, ABLIM2 +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	SCRG1, SDAD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	CCKAR, CWH43 +744 more	Copy number gain	See cases	GPathogenic
Select item 253503	GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 253447	GRCh37/hg19 4p14-11(chr4:38532827-49064044)x3	CHRNA9, CWH43 +54 more	Copy number gain	See cases	GPathogenic

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Items: 65