ClinVar for Gene (Select 8241) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3370379	GRCh38/hg38 Xp11.3(chrX:46270996-47571920)x2	ARAF, CDK16 +67 more	Copy number gain	Intellectual disability	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 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 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
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 3342327	NM_005676.5(RBM10):c.432+3A>T	RBM10	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3313157	NM_005676.5(RBM10):c.2671C>A (p.Gln891Lys)	RBM10 (Q813K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3257764	NM_005676.5(RBM10):c.1177G>T (p.Glu393Ter)	RBM10 (E315* +4 more)	Single nucleotide variant (nonsense)	Neoplasm	OLikely oncogenic
Select item 3254884	NM_005676.5(RBM10):c.579_586dup (p.Asn196fs)	RBM10 (N119fs +2 more)	Duplication (frameshift variant)	TARP syndrome	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 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 3246829	NC_000023.10:g.(?_47001716)_(47006917_?)dup	NDUFB11, RBM10	Duplication	not provided	GUncertain significance
Select item 3244684	NC_000023.10:g.(?_46466387)_(51241672_?)dup	AKAP4, ARAF +91 more	Duplication	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3239270	NM_005676.5(RBM10):c.467C>T (p.Ala156Val)	RBM10 (A156V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3152154	NM_005676.5(RBM10):c.1877A>G (p.His626Arg)	RBM10 (H625R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3152152	NM_005676.5(RBM10):c.1465G>A (p.Asp489Asn)	RBM10 (D411N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3152151	NM_005676.5(RBM10):c.137G>A (p.Arg46His)	RBM10 (R46H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3049165	NM_005676.5(RBM10):c.252G>C (p.Arg84=)	RBM10	Single nucleotide variant (synonymous variant +1 more)	RBM10-related disorder	GLikely benign
Select item 3048944	NM_005676.5(RBM10):c.253C>A (p.Arg85=)	RBM10	Single nucleotide variant (synonymous variant +1 more)	RBM10-related disorder	GLikely benign
Select item 3043765	NM_005676.5(RBM10):c.1749C>T (p.Asp583=)	RBM10	Single nucleotide variant (synonymous variant)	RBM10-related disorder	GLikely benign
Select item 3025949	NM_005676.5(RBM10):c.2677C>T (p.Arg893Trp)	RBM10 (R815W +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3023254	NM_005676.5(RBM10):c.315G>A (p.Gln105=)	RBM10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3013596	NM_005676.5(RBM10):c.1869C>T (p.Ala623=)	RBM10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2909453	NM_005676.5(RBM10):c.2563G>A (p.Gly855Arg)	RBM10 (G777R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2900275	NM_005676.5(RBM10):c.670G>A (p.Val224Ile)	LOC126863252, RBM10 (V224I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2897251	NM_005676.5(RBM10):c.1494C>T (p.Arg498=)	RBM10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2896799	NM_005676.5(RBM10):c.1464C>T (p.Ala488=)	RBM10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2895194	NM_005676.5(RBM10):c.1652C>T (p.Pro551Leu)	RBM10 (P474L +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2893811	NM_005676.5(RBM10):c.228C>T (p.Ser76=)	RBM10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2890482	NM_005676.5(RBM10):c.1602G>A (p.Val534=)	RBM10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888277	NM_005676.5(RBM10):c.432C>T (p.Asp144=)	RBM10	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2884814	NM_005676.5(RBM10):c.97G>A (p.Asp33Asn)	RBM10 (D98N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881533	NM_005676.5(RBM10):c.1227G>A (p.Ala409=)	RBM10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881530	NM_005676.5(RBM10):c.297C>T (p.Asp99=)	RBM10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2881401	NM_005676.5(RBM10):c.1475C>T (p.Ser492Leu)	RBM10 (S491L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881171	NM_005676.5(RBM10):c.336GGA[10] (p.Glu119_Asp120insGluGlu)	RBM10	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2881136	NM_005676.5(RBM10):c.991G>A (p.Val331Met)	RBM10 (V396M +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2880989	NM_005676.5(RBM10):c.2166+20A>C	RBM10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2880927	NM_005676.5(RBM10):c.1075C>T (p.Leu359=)	RBM10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880804	NM_005676.5(RBM10):c.1725T>C (p.Asp575=)	RBM10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875515	NM_005676.5(RBM10):c.1120G>A (p.Gly374Ser)	RBM10 (G296S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875238	NM_005676.5(RBM10):c.997G>A (p.Val333Ile)	RBM10 (V333I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874471	NM_005676.5(RBM10):c.2485G>A (p.Glu829Lys)	RBM10 (E828K +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2873278	NM_005676.5(RBM10):c.2141C>A (p.Pro714Gln)	RBM10 (P636Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2872957	NM_005676.5(RBM10):c.17+3G>A	RBM10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2871696	NM_005676.5(RBM10):c.2167-4A>G	RBM10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871193	NM_005676.5(RBM10):c.17+15C>T	RBM10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2870986	NM_005676.5(RBM10):c.1705G>A (p.Val569Ile)	RBM10 (V491I +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2870967	NM_005676.5(RBM10):c.495A>G (p.Lys165=)	RBM10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2868881	NM_005676.5(RBM10):c.2481C>T (p.Ile827=)	RBM10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2867561	NM_005676.5(RBM10):c.901+19C>T	LOC126863252, RBM10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867351	NM_005676.5(RBM10):c.576+11C>T	RBM10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2867070	NM_005676.5(RBM10):c.433-7C>G	RBM10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2865053	NM_005676.5(RBM10):c.1436-11C>T	RBM10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2857121	NM_005676.5(RBM10):c.1293G>A (p.Pro431=)	RBM10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2843179	NM_005676.5(RBM10):c.2162G>A (p.Arg721His)	RBM10 (R786H +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2841956	NM_005676.5(RBM10):c.1056C>T (p.Thr352=)	RBM10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2824590	NM_005676.5(RBM10):c.2356-16C>T	RBM10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2821107	NM_005676.5(RBM10):c.138C>T (p.Arg46=)	RBM10	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2815964	NM_005676.5(RBM10):c.1380C>G (p.Leu460=)	RBM10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2813129	NM_005676.5(RBM10):c.664-11G>A	LOC126863252, RBM10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2812547	NM_005676.5(RBM10):c.2328G>C (p.Arg776=)	RBM10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2808443	NM_005676.5(RBM10):c.641A>G (p.Asn214Ser)	RBM10 (N214S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2806553	NM_005676.5(RBM10):c.1249-11C>G	RBM10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2803381	NM_005676.5(RBM10):c.2356-15C>T	RBM10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2800334	NM_005676.5(RBM10):c.1898C>T (p.Ser633Leu)	RBM10 (S555L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2797056	NM_005676.5(RBM10):c.2356-4G>A	RBM10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2797022	NM_005676.5(RBM10):c.336GGA[7] (p.Glu119del)	RBM10 (E119del +1 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2789804	NM_005676.5(RBM10):c.2664C>G (p.Ile888Met)	RBM10 (I810M +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2786213	NM_005676.5(RBM10):c.201+17C>T	RBM10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2785349	NM_005676.5(RBM10):c.1578G>A (p.Ser526=)	RBM10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2785334	NM_005676.5(RBM10):c.469C>T (p.Arg157Trp)	RBM10 (R157W +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2781707	NM_005676.5(RBM10):c.308G>A (p.Arg103Gln)	RBM10 (R168Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2781349	NM_005676.5(RBM10):c.2101-7A>G	RBM10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2781171	NM_005676.5(RBM10):c.2166+16AG[2]	RBM10	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2778213	NM_005676.5(RBM10):c.66G>T (p.Ser22=)	RBM10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2777398	NM_005676.5(RBM10):c.2431-19T>C	RBM10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2776972	NM_005676.5(RBM10):c.1517G>T (p.Gly506Val)	RBM10 (G505V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2771399	NM_005676.5(RBM10):c.2734G>A (p.Glu912Lys)	RBM10 (E911K +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2763707	NM_005676.5(RBM10):c.1785+5T>C	RBM10	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2758281	NM_005676.5(RBM10):c.872C>T (p.Ser291Leu)	LOC126863252, RBM10 (S214L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2757062	NM_005676.5(RBM10):c.914G>A (p.Arg305His)	RBM10 (R228H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2756308	NM_005676.5(RBM10):c.1249-18C>T	RBM10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2752031	NM_005676.5(RBM10):c.1445C>G (p.Ala482Gly)	RBM10 (A405G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2741344	NM_005676.5(RBM10):c.1561G>A (p.Ala521Thr)	RBM10 (A586T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2733042	NM_005676.5(RBM10):c.336GGA[9] (p.Glu119_Asp120insGlu)	RBM10	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2722671	NM_005676.5(RBM10):c.2617G>A (p.Glu873Lys)	RBM10 (E795K +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2717898	NM_005676.5(RBM10):c.2167-10C>A	RBM10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2717830	NM_005676.5(RBM10):c.159C>G (p.Gly53=)	RBM10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2713708	NM_005676.5(RBM10):c.361GAG[6] (p.Glu125_Lys126insGlu)	RBM10	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2712124	NM_005676.5(RBM10):c.143A>C (p.Tyr48Ser)	RBM10 (Y48S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2704750	NM_005676.5(RBM10):c.972G>T (p.Ala324=)	RBM10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685708	GRCh37/hg19 Xp21.1-11.22(chrX:36355238-54106257)x1	CCDC22, CFP +155 more	Copy number loss	not provided	GPathogenic

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