RBM33[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ABCB8, ABCF2 +737 more	Copy number loss	See cases	GPathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	LOC129999721, LOC129999722 +707 more	Copy number loss	See cases	GPathogenic
Select item 60302	GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1	LOC129999681, LOC129999682 +573 more	Copy number loss	See cases	GPathogenic
Select item 148943	GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1	ABCB8, ABCF2 +540 more	Copy number loss	See cases	GPathogenic
Select item 148263	GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1	LOC129999684, LOC129999685 +538 more	Copy number loss	See cases	GLikely pathogenic
Select item 60312	GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1	LOC129999655, LOC129999656 +533 more	Copy number loss	See cases	GPathogenic
Select item 148715	GRCh38/hg38 7q35-36.3(chr7:146047157-157522158)x1	ABCB8, ABCF2 +473 more	Copy number loss	See cases	GPathogenic
Select item 155436	GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1	UBE3C, VIPR2 +526 more	Copy number loss	See cases	GPathogenic
Select item 57408	GRCh38/hg38 7q35-36.3(chr7:147250465-159325876)x1	ABCB8, ABCF2 +526 more	Copy number loss	See cases	GPathogenic
Select item 154525	GRCh38/hg38 7q36.1-36.3(chr7:150260297-159325876)x1	ABCB8, ABCF2 +407 more	Copy number loss	See cases	GPathogenic
Select item 146852	GRCh38/hg38 7q36.1-36.3(chr7:150486071-159335865)x1	ABCB8, ABCF2 +375 more	Copy number loss	See cases	GPathogenic
Select item 148391	GRCh38/hg38 7q36.1-36.3(chr7:150802801-159335866)x1	ABCB8, ABCF2 +351 more	Copy number loss	See cases	GPathogenic
Select item 147505	GRCh38/hg38 7q36.1-36.3(chr7:151104277-159325876)x3	ABCF2, ABCF2-H2BK1 +315 more	Copy number gain	See cases	GPathogenic
Select item 146896	GRCh38/hg38 7q36.1-36.3(chr7:151378879-158923762)x1	LOC129389944, LOC129389945 +271 more	Copy number loss	See cases	GPathogenic
Select item 60314	GRCh38/hg38 7q36.1-36.3(chr7:152332476-159296617)x1	ACTR3B, BLACE +226 more	Copy number loss	See cases	GPathogenic
Select item 150933	GRCh38/hg38 7q36.1-36.3(chr7:152428852-159335865)x3	ACTR3B, BLACE +225 more	Copy number gain	See cases	GPathogenic
Select item 545343	NC_000007.14:g.(?_152454659)_(158705768_?)del	LOC126860233, LOC129999706 +190 more	Deletion	Autism	GLikely pathogenic
Select item 147806	GRCh38/hg38 7q36.2-36.3(chr7:152807205-159325876)x1	EN2-DT, ESYT2 +207 more	Copy number loss	See cases	GPathogenic
Select item 146922	GRCh38/hg38 7q36.2-36.3(chr7:152860576-159325876)x1	BLACE, CNPY1 +205 more	Copy number loss	See cases	GPathogenic
Select item 60315	GRCh38/hg38 7q36.2-36.3(chr7:152918472-159307523)x1	BLACE, CNPY1 +204 more	Copy number loss	See cases	GPathogenic
Select item 60316	GRCh38/hg38 7q36.2-36.3(chr7:152920128-159332714)x1	BLACE, CNPY1 +205 more	Copy number loss	See cases	GPathogenic
Select item 146559	GRCh38/hg38 7q36.2-36.3(chr7:153908499-159325876)x1	BLACE, CNPY1 +195 more	Copy number loss	See cases	GPathogenic
Select item 2579275	GRCh38/hg38 7q36.2-36.3(chr7:154446117-159206757)x1	BLACE, CNPY1 +193 more	Copy number loss	Holoprosencephaly 3	GPathogenic
Select item 147399	GRCh38/hg38 7q36.2-36.3(chr7:154939710-159325876)x1	BLACE, CNPY1 +186 more	Copy number loss	See cases	GPathogenic
Select item 57200	GRCh38/hg38 7q36.2-36.3(chr7:155007022-159135526)x1	BLACE, CNPY1 +173 more	Copy number loss	See cases	GPathogenic
Select item 154568	GRCh38/hg38 7q36.3(chr7:155262313-159117047)x1	BLACE, CNPY1 +161 more	Copy number loss	See cases	GPathogenic
Select item 149109	GRCh38/hg38 7q36.3(chr7:155379296-159335866)x3	CNPY1, DNAJB6 +156 more	Copy number gain	See cases	GLikely pathogenic
Select item 146358	GRCh38/hg38 7q36.3(chr7:155501171-159325876)x1	CNPY1, DNAJB6 +150 more	Copy number loss	See cases	GPathogenic
Select item 152725	GRCh38/hg38 7q36.3(chr7:155574967-159335866)x1	DNAJB6, DYNC2I1 +148 more	Copy number loss	See cases	GPathogenic
Select item 2345944	NM_053043.3(RBM33):c.14T>G (p.Leu5Arg)	RBM33 (L5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 151571	GRCh38/hg38 7q36.3(chr7:155654153-156544324)x3	LINC00244, LOC106049962 +28 more	Copy number gain	See cases	GUncertain significance
Select item 2205341	NM_053043.3(RBM33):c.263C>A (p.Thr88Lys)	RBM33 (T88K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313270	NM_053043.3(RBM33):c.289A>G (p.Met97Val)	RBM33 (M97V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365410	NM_053043.3(RBM33):c.427C>T (p.Pro143Ser)	RBM33 (P143S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588259	NM_053043.3(RBM33):c.437G>T (p.Gly146Val)	RBM33 (G146V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313273	NM_053043.3(RBM33):c.495G>C (p.Glu165Asp)	RBM33 (E165D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313271	NM_053043.3(RBM33):c.518C>T (p.Thr173Ile)	RBM33 (T173I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152332	NM_053043.3(RBM33):c.545A>G (p.Asn182Ser)	RBM33 (N182S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658277	NM_053043.3(RBM33):c.600C>T (p.Asp200=)	RBM33	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2393481	NM_053043.3(RBM33):c.630A>T (p.Glu210Asp)	RBM33 (E210D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2391605	NM_053043.3(RBM33):c.639A>T (p.Glu213Asp)	RBM33 (E213D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515161	NM_053043.3(RBM33):c.833G>A (p.Arg278Gln)	RBM33 (R278Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288087	NM_053043.3(RBM33):c.836G>A (p.Arg279Gln)	RBM33 (R279Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278035	NM_053043.3(RBM33):c.854G>A (p.Cys285Tyr)	RBM33 (C285Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481141	NM_053043.3(RBM33):c.941C>T (p.Pro314Leu)	RBM33 (P314L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599581	NM_053043.3(RBM33):c.964C>A (p.Pro322Thr)	RBM33 (P322T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331359	NM_053043.3(RBM33):c.1019C>T (p.Pro340Leu)	RBM33 (P340L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297639	NM_053043.3(RBM33):c.1049C>T (p.Pro350Leu)	RBM33 (P350L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600933	NM_053043.3(RBM33):c.1077G>A (p.Met359Ile)	RBM33 (M359I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152318	NM_053043.3(RBM33):c.1081A>G (p.Met361Val)	RBM33 (M361V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271953	NM_053043.3(RBM33):c.1081A>C (p.Met361Leu)	RBM33 (M361L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152319	NM_053043.3(RBM33):c.1121C>T (p.Pro374Leu)	RBM33 (P374L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152320	NM_053043.3(RBM33):c.1166C>T (p.Pro389Leu)	RBM33 (P389L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152321	NM_053043.3(RBM33):c.1298T>C (p.Val433Ala)	RBM33 (V433A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404037	NM_053043.3(RBM33):c.1316A>C (p.Gln439Pro)	RBM33 (Q439P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403989	NM_053043.3(RBM33):c.1317G>C (p.Gln439His)	RBM33 (Q439H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380571	NM_053043.3(RBM33):c.1361C>T (p.Pro454Leu)	RBM33 (P454L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482527	NM_053043.3(RBM33):c.1612G>T (p.Val538Leu)	RBM33 (V538L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219049	NM_053043.3(RBM33):c.1622T>A (p.Leu541Gln)	RBM33 (L541Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313274	NM_053043.3(RBM33):c.1655G>A (p.Arg552Gln)	RBM33 (R552Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250240	NM_053043.3(RBM33):c.1687C>T (p.Pro563Ser)	RBM33 (P563S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773906	NM_053043.3(RBM33):c.1738-4G>A	RBM33	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 2309733	NM_053043.3(RBM33):c.1762C>G (p.Pro588Ala)	RBM33 (P588A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658278	NM_053043.3(RBM33):c.1847_1848insCCCCCCCCCCCCCCCCCCC (p.Gln618fs)	RBM33 (Q618fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 2549264	NM_053043.3(RBM33):c.1864C>T (p.Pro622Ser)	RBM33 (P622S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481394	NM_053043.3(RBM33):c.1886A>C (p.His629Pro)	RBM33 (H629P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514058	NM_053043.3(RBM33):c.1908C>G (p.His636Gln)	RBM33 (H636Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658279	NM_053043.3(RBM33):c.1929C>T (p.Ser643=)	RBM33	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2508751	NM_053043.3(RBM33):c.1943C>G (p.Pro648Arg)	RBM33 (P648R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557888	NM_053043.3(RBM33):c.1972C>T (p.Arg658Trp)	RBM33 (R658W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302703	NM_053043.3(RBM33):c.2019G>A (p.Met673Ile)	RBM33 (M673I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152322	NM_053043.3(RBM33):c.2021A>G (p.Gln674Arg)	RBM33 (Q674R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2566831	NM_053043.3(RBM33):c.2026C>A (p.Pro676Thr)	RBM33 (P676T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272599	NM_053043.3(RBM33):c.2069T>C (p.Val690Ala)	LOC126860242, RBM33 (V690A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152323	NM_053043.3(RBM33):c.2104G>C (p.Ala702Pro)	LOC126860242, RBM33 (A702P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283701	NM_053043.3(RBM33):c.2143C>G (p.Pro715Ala)	LOC126860242, RBM33 (P715A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551626	NM_053043.3(RBM33):c.2185A>G (p.Thr729Ala)	LOC126860242, RBM33 (T729A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379061	NM_053043.3(RBM33):c.2186C>T (p.Thr729Met)	LOC126860242, RBM33 (T729M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152324	NM_053043.3(RBM33):c.2192C>T (p.Ser731Leu)	LOC126860242, RBM33 (S731L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400848	NM_053043.3(RBM33):c.2194G>A (p.Ala732Thr)	LOC126860242, RBM33 (A732T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595174	NM_053043.3(RBM33):c.2219C>T (p.Ala740Val)	LOC126860242, RBM33 (A740V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331805	NM_053043.3(RBM33):c.2234G>A (p.Arg745Gln)	LOC126860242, RBM33 (R745Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455762	NM_053043.3(RBM33):c.2311A>G (p.Lys771Glu)	LOC126860242, RBM33 (K771E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569993	NM_053043.3(RBM33):c.2396G>T (p.Arg799Leu)	RBM33 (R799L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152326	NM_053043.3(RBM33):c.2513C>G (p.Pro838Arg)	RBM33 (P838R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590744	NM_053043.3(RBM33):c.2518C>T (p.Pro840Ser)	RBM33 (P840S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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