"GeneDx"[submitter] AND "RBM10"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59265	GRCh38/hg38 Xp11.4-11.23(chrX:41434043-47880733)x1	ARAF, CASK +152 more	Copy number loss	See cases	GPathogenic
Select item 1188447	NM_005676.5(RBM10):c.-172C>T	LOC130068208, NDUFB11 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1296132	NM_005676.5(RBM10):c.-149T>C	LOC130068208, NDUFB11 +1 more (S6P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 3252501	NM_005676.5(RBM10):c.-34G>T	RBM10 (R54S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1278217	NM_005676.5(RBM10):c.17+165_17+171dup	RBM10	Duplication (intron variant)	not provided	GBenign
Select item 1314728	NM_005676.5(RBM10):c.47A>G (p.Tyr16Cys)	RBM10 (Y16C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 280214	NM_005676.5(RBM10):c.170_171del (p.Asp56_Tyr57insTer)	RBM10	Deletion (nonsense)	not provided	GPathogenic
Select item 3343474	NM_005676.5(RBM10):c.239G>A (p.Arg80His)	RBM10 (R145H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3364102	NM_005676.5(RBM10):c.257_259delinsGGC (p.His86Arg)	RBM10 (H151R +1 more)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 3342327	NM_005676.5(RBM10):c.432+3A>T	RBM10	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1281377	NM_005676.5(RBM10):c.433-289C>T	RBM10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 432653	NM_005676.5(RBM10):c.457G>A (p.Gly153Ser)	RBM10 (G153S +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1305876	NM_005676.5(RBM10):c.464A>G (p.Gln155Arg)	RBM10 (Q155R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579392	NM_005676.5(RBM10):c.479G>A (p.Arg160Gln)	RBM10 (R160Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1265141	NM_005676.5(RBM10):c.577-267G>A	RBM10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245696	NM_005676.5(RBM10):c.663+129TC[16]	RBM10	Microsatellite (intron variant)	not provided	GBenign
Select item 1227171	NM_005676.5(RBM10):c.663+129TC[17]	RBM10	Microsatellite (intron variant)	not provided	GBenign
Select item 818058	NM_005676.5(RBM10):c.698del (p.Cys233fs)	LOC126863252, RBM10 (C156fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2430696	NM_005676.5(RBM10):c.1033T>C (p.Phe345Leu)	RBM10 (F268L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 428617	NM_005676.5(RBM10):c.1352_1353del (p.Glu451fs)	RBM10 (E373fs +4 more)	Microsatellite (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 1701012	NM_005676.5(RBM10):c.1357T>A (p.Ser453Thr)	RBM10 (S375T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 421365	NM_005676.5(RBM10):c.1435+4del	RBM10	Deletion (intron variant)	not provided	GLikely pathogenic
Select item 1314487	NM_005676.5(RBM10):c.1673A>G (p.Gln558Arg)	RBM10 (Q480R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 280558	NM_005676.5(RBM10):c.1693+2dup	RBM10	Duplication (splice donor variant)	not provided	GPathogenic
Select item 3252692	NM_005676.5(RBM10):c.1706T>C (p.Val569Ala)	RBM10 (V491A +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1206235	NM_005676.5(RBM10):c.1891G>C (p.Ala631Pro)	RBM10 (A553P +4 more)	Single nucleotide variant (missense variant)	TARP syndrome +1 more	GBenign/Likely benign
Select item 1215838	NM_005676.5(RBM10):c.1895C>T (p.Pro632Leu)	RBM10 (P554L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307406	NM_005676.5(RBM10):c.1909A>G (p.Lys637Glu)	RBM10 (K559E +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1216634	NM_005676.5(RBM10):c.1951-60G>C	RBM10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2573842	NM_005676.5(RBM10):c.2038C>T (p.Arg680Ter)	RBM10 (R602* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3372232	NM_005676.5(RBM10):c.2054G>A (p.Arg685Gln)	RBM10 (R607Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663573	NM_005676.5(RBM10):c.2078G>A (p.Gly693Asp)	RBM10 (G615D +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 429505	NM_005676.5(RBM10):c.2214_2217del (p.Ser738fs)	RBM10 (S738fs +4 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2856618	NM_005676.5(RBM10):c.2306C>T (p.Pro769Leu)	RBM10 (P834L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372646	NM_005676.5(RBM10):c.2374C>T (p.Arg792Trp)	RBM10 (R714W +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1186368	NM_005676.5(RBM10):c.2375G>A (p.Arg792Gln)	RBM10 (R714Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370087	NM_005676.5(RBM10):c.2422G>T (p.Asp808Tyr)	RBM10 (D730Y +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806617	NM_005676.5(RBM10):c.2511G>C (p.Lys837Asn)	RBM10 (K759N +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712220	NM_005676.5(RBM10):c.2557C>T (p.Arg853Trp)	RBM10 (R775W +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1219405	NM_005676.5(RBM10):c.2565dup (p.Leu856fs)	RBM10 (L778fs +4 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2507355	NM_005676.5(RBM10):c.2650A>G (p.Ile884Val)	RBM10 (I806V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 432182	NM_005676.5(RBM10):c.2668-2A>G	RBM10	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2498052	NM_005676.5(RBM10):c.2725del (p.Thr909fs)	RBM10 (T831fs +4 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 426243	NM_005676.5(RBM10):c.2765T>C (p.Met922Thr)	RBM10 (M922T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253615	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3	ACE2, ACOT9 +316 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253571	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1	ACE2, ACOT9 +316 more	Copy number loss	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253436	GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3	ABCB7, AKAP4 +250 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 3360057	NM_005676.5(RBM10):c.77G>A (p.Gly26Asp)	RBM10 (G26D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359552	NM_005676.5(RBM10):c.1970G>A (p.Arg657His)	RBM10 (R579H +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 62