ClinVar for Gene (Select 55131) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3337512	NM_018077.3(RBM28):c.1322A>G (p.Tyr441Cys)	RBM28 (Y300C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3313267	NM_018077.3(RBM28):c.776C>T (p.Ser259Leu)	RBM28 (S259L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313266	NM_018077.3(RBM28):c.1783A>G (p.Ser595Gly)	RBM28 (S454G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313265	NM_018077.3(RBM28):c.2186G>A (p.Arg729His)	RBM28 (R588H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3233594	NM_018077.3(RBM28):c.810A>G (p.Arg270=)	RBM28	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 3233585	NM_018077.3(RBM28):c.2101_10851dup	RBM28	Duplication (3 prime UTR variant)	not specified	GBenign
Select item 3152316	NM_018077.3(RBM28):c.719A>T (p.Asp240Val)	RBM28 (D240V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152315	NM_018077.3(RBM28):c.564G>T (p.Trp188Cys)	RBM28 (W47C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152314	NM_018077.3(RBM28):c.469G>C (p.Gly157Arg)	RBM28 (G157R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152313	NM_018077.3(RBM28):c.460C>T (p.Arg154Cys)	RBM28 (R154C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152312	NM_018077.3(RBM28):c.305C>G (p.Pro102Arg)	RBM28 (P102R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152311	NM_018077.3(RBM28):c.2224T>A (p.Leu742Met)	RBM28 (L601M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152309	NM_018077.3(RBM28):c.2074G>A (p.Val692Ile)	RBM28 (V692I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3152308	NM_018077.3(RBM28):c.1576C>G (p.Arg526Gly)	RBM28 (R385G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152307	NM_018077.3(RBM28):c.1532C>T (p.Thr511Ile)	RBM28 (T370I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152306	NM_018077.3(RBM28):c.1505A>G (p.Gln502Arg)	RBM28 (Q502R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152305	NM_018077.3(RBM28):c.134G>C (p.Arg45Pro)	RBM28 (R45P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152304	NM_018077.3(RBM28):c.1301C>T (p.Pro434Leu)	RBM28 (P293L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152303	NM_018077.3(RBM28):c.1238A>G (p.Lys413Arg)	RBM28 (K413R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152302	NM_018077.3(RBM28):c.1220T>C (p.Leu407Pro)	RBM28 (L407P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062992	GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1	AASS, AGBL3 +100 more	Copy number loss	not specified	GPathogenic
Select item 3062974	GRCh37/hg19 7q32.1(chr7:127962834-128281256)x3	HILPDA, IMPDH1 +3 more	Copy number gain	not specified	GUncertain significance
Select item 3057971	NM_018077.3(RBM28):c.1266G>A (p.Glu422=)	RBM28	Single nucleotide variant (synonymous variant)	RBM28-related disorder	GLikely benign
Select item 3055490	NM_018077.3(RBM28):c.2130A>G (p.Gln710=)	RBM28	Single nucleotide variant (synonymous variant)	RBM28-related disorder	GBenign
Select item 3043168	NM_018077.3(RBM28):c.396A>G (p.Thr132=)	RBM28	Single nucleotide variant (synonymous variant +1 more)	RBM28-related disorder	GLikely benign
Select item 3041149	NM_018077.3(RBM28):c.2019C>A (p.Leu673=)	RBM28	Single nucleotide variant (synonymous variant)	RBM28-related disorder	GLikely benign
Select item 2691762	NM_018077.3(RBM28):c.1489_1492dup (p.Val498fs)	RBM28 (V357fs +1 more)	Duplication (frameshift variant)	ANE syndrome	GLikely pathogenic
Select item 2685269	GRCh37/hg19 7q31.33-32.2(chr7:127076892-129405807)x1	AHCYL2, ARF5 +26 more	Copy number loss	not provided	GPathogenic
Select item 2657987	NM_018077.3(RBM28):c.119-1360G>A	RBM28	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2657986	NM_018077.3(RBM28):c.277+7T>G	RBM28	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2657985	NM_018077.3(RBM28):c.457del (p.Met153fs)	RBM28 (M153fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2657984	NM_018077.3(RBM28):c.1817G>A (p.Gly606Asp)	RBM28 (G465D +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2657983	NM_018077.3(RBM28):c.2088G>A (p.Lys696=)	RBM28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657982	NM_018077.3(RBM28):c.2178G>A (p.Thr726=)	RBM28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657981	NM_018077.3(RBM28):c.2208A>G (p.Gln736=)	RBM28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2637702	NM_018077.3(RBM28):c.2098C>T (p.Gln700Ter)	RBM28 (Q559* +1 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 2622069	NM_018077.3(RBM28):c.1010T>C (p.Val337Ala)	RBM28 (V196A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616908	NM_018077.3(RBM28):c.1058A>G (p.Glu353Gly)	RBM28 (E212G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550907	NM_018077.3(RBM28):c.1634C>T (p.Ala545Val)	RBM28 (A404V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534915	NM_018077.3(RBM28):c.220A>G (p.Asn74Asp)	RBM28 (N74D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486994	NM_018077.3(RBM28):c.1250C>T (p.Ala417Val)	RBM28 (A276V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475468	NM_018077.3(RBM28):c.1096A>G (p.Ile366Val)	RBM28 (I225V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472401	NM_018077.3(RBM28):c.517G>C (p.Gly173Arg)	RBM28 (G173R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464249	NM_018077.3(RBM28):c.1195G>C (p.Glu399Gln)	RBM28 (E258Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458494	NM_018077.3(RBM28):c.305C>T (p.Pro102Leu)	RBM28 (P102L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2435384	NM_018077.3(RBM28):c.2182A>T (p.Thr728Ser)	RBM28 (T587S +1 more)	Single nucleotide variant (missense variant)	ANE syndrome	GUncertain significance
Select item 2380067	NM_018077.3(RBM28):c.521T>A (p.Met174Lys)	RBM28 (M174K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355271	NM_018077.3(RBM28):c.700G>A (p.Asp234Asn)	RBM28 (D234N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345670	NM_018077.3(RBM28):c.490C>T (p.Leu164Phe)	RBM28 (L164F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332570	NM_018077.3(RBM28):c.1781G>A (p.Arg594His)	RBM28 (R453H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325038	NM_018077.3(RBM28):c.130T>A (p.Cys44Ser)	RBM28 (C44S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303362	NM_018077.3(RBM28):c.1808C>A (p.Pro603His)	RBM28 (P462H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237440	NM_018077.3(RBM28):c.408A>C (p.Gln136His)	RBM28 (Q136H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233804	NM_018077.3(RBM28):c.1903C>T (p.Pro635Ser)	RBM28 (P635S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218239	NM_018077.3(RBM28):c.854A>G (p.Glu285Gly)	RBM28 (E285G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212504	NM_018077.3(RBM28):c.1071G>C (p.Gln357His)	RBM28 (Q216H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527396	GRCh37/hg19 7q32.1(chr7:127311520-128041339)	IMPDH1, LEP +4 more	Copy number gain	not specified	GUncertain significance
Select item 1527395	GRCh37/hg19 7q32.1-34(chr7:127295698-139524358)	CHCHD3, CHRM2 +88 more	Copy number loss	not specified	GPathogenic
Select item 1527394	GRCh37/hg19 7q31.33-33(chr7:124103982-134693590)	BPGM, CALD1 +65 more	Copy number loss	not specified	GPathogenic
Select item 1527391	GRCh37/hg19 7q31.33-33(chr7:123967475-132729981)	ZC3HC1, ZNF800 +55 more	Copy number loss	not specified	GPathogenic
Select item 1527383	GRCh37/hg19 7q22.3-32.1(chr7:106984287-128949489)	PRRT4, PTPRZ1 +92 more	Copy number gain	not specified	GPathogenic
Select item 1028085	NM_018077.3(RBM28):c.1745G>A (p.Arg582Gln)	RBM28 (R582Q +1 more)	Single nucleotide variant (missense variant)	ANE syndrome +1 more	GUncertain significance
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 813532	NM_018077.3(RBM28):c.1728G>C (p.Glu576Asp)	RBM28 (E576D +1 more)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 802364	NM_018077.3(RBM28):c.541+1del	RBM28	Deletion (intron variant +1 more)	ANE syndrome	GPathogenic
Select item 802363	NM_018077.3(RBM28):c.946G>T (p.Ala316Ser)	RBM28 (A175S +1 more)	Single nucleotide variant (missense variant)	ANE syndrome	GLikely pathogenic
Select item 788647	NM_018077.3(RBM28):c.449-7C>T	RBM28	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 788269	NM_018077.3(RBM28):c.2135C>T (p.Ser712Leu)	RBM28 (S571L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 787866	NM_018077.3(RBM28):c.718G>C (p.Asp240His)	RBM28 (D240H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 787865	NM_018077.3(RBM28):c.2015C>T (p.Ala672Val)	RBM28 (A531V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 787321	NM_018077.3(RBM28):c.726AGA[1] (p.Glu243del)	RBM28 (E243del +1 more)	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 782497	NM_018077.3(RBM28):c.1608G>A (p.Lys536=)	RBM28	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 782273	NM_018077.3(RBM28):c.1284G>A (p.Thr428=)	RBM28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 774195	NM_018077.3(RBM28):c.2077C>T (p.His693Tyr)	RBM28 (H552Y +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 772900	NM_018077.3(RBM28):c.87G>A (p.Pro29=)	RBM28	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 753220	NM_018077.3(RBM28):c.786C>T (p.Thr262=)	RBM28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 751017	NM_018077.3(RBM28):c.280A>T (p.Asn94Tyr)	RBM28 (N94Y)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 750520	NM_018077.3(RBM28):c.591T>C (p.Asp197=)	RBM28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 746145	NM_018077.3(RBM28):c.1563+7C>T	RBM28	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 727783	NM_018077.3(RBM28):c.1944C>T (p.Thr648=)	RBM28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 726246	NM_018077.3(RBM28):c.1014T>C (p.Phe338=)	RBM28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 722771	NM_018077.3(RBM28):c.993G>T (p.Val331=)	RBM28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 722653	NM_018077.3(RBM28):c.1251G>A (p.Ala417=)	RBM28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717928	NM_018077.3(RBM28):c.2185C>T (p.Arg729Cys)	RBM28 (R588C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 717652	NM_018077.3(RBM28):c.1387A>C (p.Met463Leu)	RBM28 (M322L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 714770	NM_018077.3(RBM28):c.1683C>T (p.Asn561=)	RBM28	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 711886	NM_018077.3(RBM28):c.306G>A (p.Pro102=)	RBM28	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 711708	NM_018077.3(RBM28):c.1552C>T (p.Arg518Cys)	RBM28 (R518C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 687212	GRCh37/hg19 7q31.32-32.2(chr7:121480906-129389003)x1	AASS, AHCYL2 +46 more	Copy number loss	not provided	GPathogenic
Select item 599472	NM_018077.3(RBM28):c.2273A>G (p.Asp758Gly)	RBM28 (D758G +1 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 154485	GRCh38/hg38 7q31.33-33(chr7:124170657-134163594)x1	COPG2, COPG2IT1 +342 more	Copy number loss	See cases	GPathogenic
Select item 154454	GRCh38/hg38 7q31.32-32.1(chr7:122018122-128907727)x1	AASS, ARF5 +163 more	Copy number loss	See cases	GPathogenic
Select item 153888	GRCh38/hg38 7q32.1(chr7:127817826-129237503)x3	IMPDH1, AHCYL2 +106 more	Copy number gain	See cases	GLikely benign

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