ClinVar for Gene (Select 155435) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 2685274	GRCh37/hg19 7q35-36.3(chr7:144940098-159119707)x1	INSIG1, PDIA4 +80 more	Copy number loss	not provided	GPathogenic
Select item 2685272	GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1	CLCN1, RHEB +123 more	Copy number loss	not provided	GPathogenic
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic
Select item 2658279	NM_053043.3(RBM33):c.1929C>T (p.Ser643=)	RBM33	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658278	NM_053043.3(RBM33):c.1847_1848insCCCCCCCCCCCCCCCCCCC (p.Gln618fs)	RBM33 (Q618fs)	Insertion (frameshift variant)	not provided	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 2605487	NM_053043.3(RBM33):c.2656G>A (p.Val886Ile)	RBM33 (V886I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600933	NM_053043.3(RBM33):c.1077G>A (p.Met359Ile)	RBM33 (M359I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599581	NM_053043.3(RBM33):c.964C>A (p.Pro322Thr)	RBM33 (P322T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595174	NM_053043.3(RBM33):c.2219C>T (p.Ala740Val)	RBM33, LOC126860242 (A740V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590744	NM_053043.3(RBM33):c.2518C>T (p.Pro840Ser)	RBM33 (P840S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588259	NM_053043.3(RBM33):c.437G>T (p.Gly146Val)	RBM33 (G146V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	DYNC2I1, EN2 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	AGAP3, AGK +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2569993	NM_053043.3(RBM33):c.2396G>T (p.Arg799Leu)	RBM33 (R799L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2566831	NM_053043.3(RBM33):c.2026C>A (p.Pro676Thr)	RBM33 (P676T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557888	NM_053043.3(RBM33):c.1972C>T (p.Arg658Trp)	RBM33 (R658W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551626	NM_053043.3(RBM33):c.2185A>G (p.Thr729Ala)	LOC126860242, RBM33 (T729A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549264	NM_053043.3(RBM33):c.1864C>T (p.Pro622Ser)	RBM33 (P622S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515161	NM_053043.3(RBM33):c.833G>A (p.Arg278Gln)	RBM33 (R278Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514058	NM_053043.3(RBM33):c.1908C>G (p.His636Gln)	RBM33 (H636Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508751	NM_053043.3(RBM33):c.1943C>G (p.Pro648Arg)	RBM33 (P648R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2504594	GRCh37/hg19 7q36.2-36.3(chr7:154672988-155411249)x3	PAXIP1, RBM33 +4 more	Copy number gain	See cases	GUncertain significance
Select item 2482527	NM_053043.3(RBM33):c.1612G>T (p.Val538Leu)	RBM33 (V538L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481394	NM_053043.3(RBM33):c.1886A>C (p.His629Pro)	RBM33 (H629P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481141	NM_053043.3(RBM33):c.941C>T (p.Pro314Leu)	RBM33 (P314L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455762	NM_053043.3(RBM33):c.2311A>G (p.Lys771Glu)	LOC126860242, RBM33 (K771E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2422565	NC_000007.13:g.(?_152617597)_(158500659_?)del	CNPY1, DNAJB6 +13 more	Deletion	not provided	GPathogenic
Select item 2404037	NM_053043.3(RBM33):c.1316A>C (p.Gln439Pro)	RBM33 (Q439P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403989	NM_053043.3(RBM33):c.1317G>C (p.Gln439His)	RBM33 (Q439H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400848	NM_053043.3(RBM33):c.2194G>A (p.Ala732Thr)	RBM33, LOC126860242 (A732T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393481	NM_053043.3(RBM33):c.630A>T (p.Glu210Asp)	RBM33 (E210D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2391605	NM_053043.3(RBM33):c.639A>T (p.Glu213Asp)	RBM33 (E213D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382115	NM_053043.3(RBM33):c.2906A>G (p.His969Arg)	RBM33 (H969R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380571	NM_053043.3(RBM33):c.1361C>T (p.Pro454Leu)	RBM33 (P454L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379061	NM_053043.3(RBM33):c.2186C>T (p.Thr729Met)	LOC126860242, RBM33 (T729M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374473	NM_053043.3(RBM33):c.2863C>T (p.Arg955Trp)	RBM33 (R955W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365410	NM_053043.3(RBM33):c.427C>T (p.Pro143Ser)	RBM33 (P143S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354589	NM_053043.3(RBM33):c.3238C>T (p.Arg1080Cys)	RBM33 (R1080C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345944	NM_053043.3(RBM33):c.14T>G (p.Leu5Arg)	RBM33 (L5R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331805	NM_053043.3(RBM33):c.2234G>A (p.Arg745Gln)	LOC126860242, RBM33 (R745Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331359	NM_053043.3(RBM33):c.1019C>T (p.Pro340Leu)	RBM33 (P340L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310867	NM_053043.3(RBM33):c.3194T>C (p.Met1065Thr)	RBM33 (M1065T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309733	NM_053043.3(RBM33):c.1762C>G (p.Pro588Ala)	RBM33 (P588A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302703	NM_053043.3(RBM33):c.2019G>A (p.Met673Ile)	RBM33 (M673I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297639	NM_053043.3(RBM33):c.1049C>T (p.Pro350Leu)	RBM33 (P350L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290585	NM_053043.3(RBM33):c.2849C>T (p.Ala950Val)	RBM33 (A950V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288087	NM_053043.3(RBM33):c.836G>A (p.Arg279Gln)	RBM33 (R279Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283701	NM_053043.3(RBM33):c.2143C>G (p.Pro715Ala)	LOC126860242, RBM33 (P715A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278035	NM_053043.3(RBM33):c.854G>A (p.Cys285Tyr)	RBM33 (C285Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272599	NM_053043.3(RBM33):c.2069T>C (p.Val690Ala)	LOC126860242, RBM33 (V690A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271953	NM_053043.3(RBM33):c.1081A>C (p.Met361Leu)	RBM33 (M361L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260869	NM_053043.3(RBM33):c.3007C>T (p.Pro1003Ser)	RBM33 (P1003S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258935	NM_053043.3(RBM33):c.3029T>G (p.Leu1010Arg)	RBM33 (L1010R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250240	NM_053043.3(RBM33):c.1687C>T (p.Pro563Ser)	RBM33 (P563S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219592	NM_053043.3(RBM33):c.3086G>T (p.Gly1029Val)	LOC129999714, RBM33 (G1029V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219049	NM_053043.3(RBM33):c.1622T>A (p.Leu541Gln)	RBM33 (L541Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206594	NM_053043.3(RBM33):c.2602C>A (p.Gln868Lys)	RBM33 (Q868K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205341	NM_053043.3(RBM33):c.263C>A (p.Thr88Lys)	RBM33 (T88K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1705937	GRCh37/hg19 7q36.3(chr7:155389460-157960969)x1	RBM33, DNAJB6 +7 more	Copy number loss	Microcephaly	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1703527	GRCh37/hg19 7q36.2-36.3(chr7:154831466-156356088)	INSIG1, RBM33 +4 more	Copy number loss	Holoprosencephaly 3	GPathogenic
Select item 1341986	GRCh37/hg19 7q36.1-36.3(chr7:149062717-159124131)x1	ABCB8, ABCF2 +65 more	Copy number loss	not provided	GPathogenic
Select item 1341970	GRCh37/hg19 7q35-36.3(chr7:146927174-159128556)x3	ABCF2, ACTR3B +80 more	Copy number gain	not provided	GPathogenic
Select item 1341257	GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3	ABCB8, ABCF2 +186 more	Copy number gain	not provided	GPathogenic
Select item 1340734	GRCh37/hg19 7q36.1-36.3(chr7:148153261-157543640)x3	ACTR3C, ABCB8 +75 more	Copy number gain	not provided	GPathogenic
Select item 1340055	GRCh37/hg19 7q36.1-36.3(chr7:148695373-159119707)x1	ABCB8, ABCF2 +72 more	Copy number loss	not provided	GPathogenic
Select item 983166	GRCh37/hg19 7q36.2-36.3(chr7:152800000-159138663)x1	UBE3C, ESYT2 +16 more	Copy number loss	See cases	GPathogenic
Select item 980290	GRCh37/hg19 7q36.3(chr7:155319280-159119707)x1	DNAJB6, LMBR1 +12 more	Copy number loss	not provided	GPathogenic
Select item 973042	GRCh37/hg19 7q35-36.3(chr7:143107740-156886246)x3	ABCB8, ABCF2 +96 more	Copy number gain	not provided	Gnot provided
Select item 929391	GRCh37/hg19 7q36.2-36.3(chr7:154585431-155488931)x3	CNPY1, EN2 +4 more	Copy number gain	See cases	GUncertain significance
Select item 816507	GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1	ABCB8, ABCF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 815045	GRCh37/hg19 7q35-36.3(chr7:145962558-159119707)x1	NOM1, NOS3 +80 more	Copy number loss	not provided	GPathogenic
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 773906	NM_053043.3(RBM33):c.1738-4G>A	RBM33	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 688878	GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3	OR2A25, OR2A42 +192 more	Copy number gain	not provided	GPathogenic
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 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic
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 563421	GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1	ABCB8, ABCF2 +143 more	Copy number loss	not provided	GPathogenic
Select item 563418	GRCh37/hg19 7q36.2-36.3(chr7:153958355-159119707)x1	INSIG1, ESYT2 +16 more	Copy number loss	not provided	GPathogenic
Select item 563414	GRCh37/hg19 7q36.1-36.3(chr7:152578849-156183328)x3	CNPY1, EN2 +5 more	Copy number gain	not provided	GLikely pathogenic
Select item 560044	Single allele	RBM33, SHH	Duplication	not provided	GLikely pathogenic
Select item 545343	NC_000007.14:g.(?_152454659)_(158705768_?)del	ACTR3B, BLACE +190 more	Deletion	Autism	GLikely pathogenic
Select item 443709	GRCh37/hg19 7q36.2-36.3(chr7:154963758-157582526)x3	CNPY1, DNAJB6 +10 more	Copy number gain	See cases	GLikely pathogenic
Select item 443708	GRCh37/hg19 7q36.1-36.3(chr7:151167135-159119707)x1	ACTR3B, CNPY1 +23 more	Copy number loss	See cases	GPathogenic
Select item 443094	GRCh37/hg19 7q36.3(chr7:155500889-156001631)x3	RBM33, SHH	Copy number gain	See cases	GUncertain significance
Select item 442966	GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1	ABCB8, ABCF2 +162 more	Copy number loss	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 442820	GRCh37/hg19 7q36.1-36.3(chr7:151566053-159119707)x3	ACTR3B, CNPY1 +22 more	Copy number gain	See cases	GPathogenic

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