ROBO3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	BCL9L, BLID +774 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	ABCG4, ACAD8 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	LOC128772366, LOC128772367 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	LOC130006864, LOC130006865 +763 more	Copy number gain	See cases	GPathogenic
Select item 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	LOC130007002, LOC130007003 +499 more	Copy number gain	See cases	GPathogenic
Select item 57503	GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3	ABCG4, ACAD8 +635 more	Copy number gain	See cases	GPathogenic
Select item 545140	Single allele	ABCG4, ACAD8 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 150032	GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1	LOC130006995, LOC130006996 +551 more	Copy number loss	See cases	GPathogenic
Select item 57238	GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1	LOC121832824, LOC124625855 +549 more	Copy number loss	See cases	GPathogenic
Select item 151354	GRCh38/hg38 11q23.3-24.2(chr11:120080142-125829106)x1	ACRV1, ARHGEF12 +255 more	Copy number loss	See cases	GPathogenic
Select item 59777	GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3	OR8G5, PANX3 +519 more	Copy number gain	See cases	GPathogenic
Select item 58924	GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1	ACAD8, ACRV1 +488 more	Copy number loss	See cases	GPathogenic
Select item 149328	GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1	ACAD8, ACRV1 +497 more	Copy number loss	See cases	GPathogenic
Select item 154016	GRCh38/hg38 11q24.1-25(chr11:121611476-135068576)x1	LOC126861375, LOC126861376 +444 more	Copy number loss	See cases	GPathogenic
Select item 150820	GRCh38/hg38 11q24.1-25(chr11:121689052-135075271)x1	ACAD8, ACRV1 +442 more	Copy number loss	See cases	GPathogenic
Select item 148952	GRCh38/hg38 11q24.1-25(chr11:121780459-135075271)x1	ACAD8, ACRV1 +440 more	Copy number loss	See cases	GPathogenic
Select item 154045	GRCh38/hg38 11q24.1-25(chr11:121806547-135068576)x1	ACAD8, ACRV1 +439 more	Copy number loss	See cases	GPathogenic
Select item 147400	GRCh38/hg38 11q24.1-24.2(chr11:122182443-125957977)x1	ACRV1, BSX +166 more	Copy number loss	See cases	GPathogenic
Select item 145308	GRCh38/hg38 11q24.1-25(chr11:123799938-134998526)x1	ACAD8, ACRV1 +368 more	Copy number loss	See cases	GPathogenic
Select item 149547	GRCh38/hg38 11q24.1-25(chr11:123963074-135075271)x1	ACAD8, ACRV1 +363 more	Copy number loss	See cases	GPathogenic
Select item 57206	GRCh38/hg38 11q24.2-25(chr11:124155723-134998513)x1	ACAD8, ACRV1 +353 more	Copy number loss	See cases	GPathogenic
Select item 145337	GRCh38/hg38 11q24.2-25(chr11:124205225-134998526)x1	ACAD8, ACRV1 +352 more	Copy number loss	See cases	GPathogenic
Select item 151164	GRCh38/hg38 11q24.2-25(chr11:124315025-134818116)x1	ACAD8, ACRV1 +343 more	Copy number loss	See cases	GPathogenic
Select item 149014	GRCh38/hg38 11q24.2(chr11:124565941-125095785)x1	CCDC15, ESAM +37 more	Copy number loss	See cases	GUncertain significance
Select item 303216	NM_022370.4(ROBO3):c.-120G>C	ROBO3	Single nucleotide variant (5 prime UTR variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GBenign
Select item 303217	NM_022370.4(ROBO3):c.-60G>T	ROBO3	Single nucleotide variant (5 prime UTR variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 2179	NM_022370.4(ROBO3):c.14T>C (p.Leu5Pro)	ROBO3 (L5P)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GLikely pathogenic
Select item 2268975	NM_022370.4(ROBO3):c.19A>C (p.Lys7Gln)	ROBO3 (K7Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616135	NM_022370.4(ROBO3):c.34A>C (p.Met12Leu)	ROBO3 (M12L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 303218	NM_022370.4(ROBO3):c.43T>C (p.Phe15Leu)	ROBO3 (F15L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 303219	NM_022370.4(ROBO3):c.46G>A (p.Ala16Thr)	ROBO3 (A16T)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1 +1 more	GLikely benign
Select item 2345637	NM_022370.4(ROBO3):c.76T>C (p.Ser26Pro)	ROBO3 (S26P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3044846	NM_022370.4(ROBO3):c.91T>C (p.Leu31=)	ROBO3	Single nucleotide variant (synonymous variant)	ROBO3-related disorder	GLikely benign
Select item 1319649	NM_022370.4(ROBO3):c.160G>A (p.Gly54Arg)	ROBO3 (G54R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 303220	NM_022370.4(ROBO3):c.160+12C>T	ROBO3	Single nucleotide variant (intron variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GLikely benign
Select item 3155617	NM_022370.4(ROBO3):c.169G>A (p.Val57Ile)	ROBO3 (V57I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278036	NM_022370.4(ROBO3):c.176C>T (p.Pro59Leu)	ROBO3 (P59L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2180	NM_022370.4(ROBO3):c.196A>C (p.Ile66Leu)	ROBO3 (I66L)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GLikely pathogenic
Select item 3046546	NM_022370.4(ROBO3):c.225C>T (p.Val75=)	ROBO3	Single nucleotide variant (synonymous variant)	ROBO3-related disorder	GLikely benign
Select item 2629002	NM_022370.4(ROBO3):c.228_245del (p.Arg77_Thr82del)	ROBO3	Deletion (inframe_deletion)	ROBO3-related disorder	GUncertain significance
Select item 996109	NM_022370.4(ROBO3):c.271C>T (p.Pro91Ser)	ROBO3 (P91S)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GLikely pathogenic
Select item 996120	NM_022370.4(ROBO3):c.284T>C (p.Ile95Thr)	ROBO3 (I95T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 3346331	NM_022370.4(ROBO3):c.300C>T (p.Asn100=)	ROBO3	Single nucleotide variant (synonymous variant)	ROBO3-related disorder	GLikely benign
Select item 996119	NM_022370.4(ROBO3):c.335G>C (p.Arg112Pro)	ROBO3 (R112P)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GLikely pathogenic
Select item 758454	NM_022370.4(ROBO3):c.354G>A (p.Leu118=)	ROBO3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3362580	NM_022370.4(ROBO3):c.403_404del (p.Arg135fs)	ROBO3 (R135fs)	Microsatellite (frameshift variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GLikely pathogenic
Select item 996112	NM_022370.4(ROBO3):c.416G>T (p.Gly139Val)	ROBO3 (G139V)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GLikely pathogenic
Select item 2637325	NM_022370.4(ROBO3):c.449G>A (p.Gly150Glu)	ROBO3 (G150E)	Single nucleotide variant (missense variant)	ROBO3-related disorder	GUncertain significance
Select item 2473660	NM_022370.4(ROBO3):c.466A>C (p.Asn156His)	ROBO3 (N156H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 303221	NM_022370.4(ROBO3):c.468C>T (p.Asn156=)	ROBO3	Single nucleotide variant (synonymous variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 303222	NM_022370.4(ROBO3):c.488-14A>C	ROBO3	Single nucleotide variant (intron variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1 +1 more	GBenign
Select item 726540	NM_022370.4(ROBO3):c.488-6G>C	ROBO3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2398853	NM_022370.4(ROBO3):c.520A>G (p.Asn174Asp)	ROBO3 (N174D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 632150	NM_022370.4(ROBO3):c.571dup (p.Arg191fs)	ROBO3 (R191fs)	Duplication (frameshift variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2618116	NM_022370.4(ROBO3):c.565C>A (p.Pro189Thr)	ROBO3 (P189T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1804990	NM_022370.4(ROBO3):c.571del (p.Arg191fs)	ROBO3 (R191fs)	Deletion (frameshift variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GPathogenic
Select item 303223	NM_022370.4(ROBO3):c.567C>T (p.Pro189=)	ROBO3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 444276	NM_022370.4(ROBO3):c.568C>T (p.Pro190Ser)	ROBO3 (P190S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3155637	NM_022370.4(ROBO3):c.571C>G (p.Arg191Gly)	ROBO3 (R191G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256352	NM_022370.4(ROBO3):c.578A>G (p.His193Arg)	ROBO3 (H193R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 303224	NM_022370.4(ROBO3):c.592G>A (p.Val198Met)	ROBO3 (V198M)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 880104	NM_022370.4(ROBO3):c.630G>A (p.Glu210=)	ROBO3	Single nucleotide variant (synonymous variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 303225	NM_022370.4(ROBO3):c.637A>C (p.Arg213=)	ROBO3	Single nucleotide variant (synonymous variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1 +1 more	GConflicting classifications of pathogenicity
Select item 880105	NM_022370.4(ROBO3):c.646-11T>G	ROBO3	Single nucleotide variant (intron variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 3155638	NM_022370.4(ROBO3):c.709G>A (p.Val237Ile)	ROBO3 (V237I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314310	NM_022370.4(ROBO3):c.710T>A (p.Val237Glu)	ROBO3 (V237E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 303226	NM_022370.4(ROBO3):c.716C>T (p.Ser239Phe)	ROBO3 (S239F)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 2528298	NM_022370.4(ROBO3):c.722T>C (p.Met241Thr)	ROBO3 (M241T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 303227	NM_022370.4(ROBO3):c.726G>C (p.Ala242=)	ROBO3	Single nucleotide variant (synonymous variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1 +1 more	GBenign
Select item 2184	NM_022370.4(ROBO3):c.733C>T (p.Arg245Trp)	ROBO3 (R245W)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GConflicting classifications of pathogenicity
Select item 2642499	NM_022370.4(ROBO3):c.744G>A (p.Ala248=)	ROBO3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 303228	NM_022370.4(ROBO3):c.764T>C (p.Leu255Pro)	ROBO3 (L255P)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 1327964	NM_022370.4(ROBO3):c.766+24T>C	ROBO3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 974850	NM_022370.4(ROBO3):c.767-1G>A	ROBO3	Single nucleotide variant (splice acceptor variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GPathogenic/Likely pathogenic
Select item 303229	NM_022370.4(ROBO3):c.769C>T (p.Arg257Cys)	ROBO3 (R257C)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1 +2 more	GUncertain significance
Select item 877305	NM_022370.4(ROBO3):c.770G>A (p.Arg257His)	ROBO3 (R257H)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 2461370	NM_022370.4(ROBO3):c.793G>A (p.Val265Met)	ROBO3 (V265M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 745550	NM_022370.4(ROBO3):c.808C>T (p.Leu270=)	ROBO3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3155639	NM_022370.4(ROBO3):c.818C>T (p.Ala273Val)	ROBO3 (A273V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3053078	NM_022370.4(ROBO3):c.819C>T (p.Ala273=)	ROBO3	Single nucleotide variant (synonymous variant)	ROBO3-related disorder	GLikely benign
Select item 303230	NM_022370.4(ROBO3):c.850G>A (p.Asp284Asn)	ROBO3 (D284N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3036923	NM_022370.4(ROBO3):c.906-3C>T	ROBO3	Single nucleotide variant (intron variant)	ROBO3-related disorder	GLikely benign
Select item 2642500	NM_022370.4(ROBO3):c.916C>A (p.Arg306=)	ROBO3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2177	NM_022370.4(ROBO3):c.955G>A (p.Glu319Lys)	ROBO3 (E319K)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GLikely pathogenic
Select item 3315004	NM_022370.4(ROBO3):c.968C>A (p.Thr323Lys)	ROBO3 (T323K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 303231	NM_022370.4(ROBO3):c.968C>T (p.Thr323Met)	ROBO3 (T323M)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1 +2 more	GConflicting classifications of pathogenicity
Select item 736932	NM_022370.4(ROBO3):c.972C>T (p.Tyr324=)	ROBO3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736457	NM_022370.4(ROBO3):c.1002C>T (p.Arg334=)	ROBO3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1878751	NM_022370.4(ROBO3):c.1027G>A (p.Val343Ile)	ROBO3 (V343I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 303232	NM_022370.4(ROBO3):c.1034-13C>G	ROBO3	Single nucleotide variant (intron variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 561157	NM_022370.4(ROBO3):c.1051A>C (p.Thr351Pro)	ROBO3 (T351P)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GUncertain significance
Select item 2172	NM_022370.4(ROBO3):c.1082G>A (p.Gly361Glu)	ROBO3 (G361E)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GLikely pathogenic
Select item 754002	NM_022370.4(ROBO3):c.1089C>T (p.Ser363=)	ROBO3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 303233	NM_022370.4(ROBO3):c.1104C>T (p.Cys368=)	ROBO3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2617771	NM_022370.4(ROBO3):c.1150G>A (p.Gly384Arg)	ROBO3 (G384R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552442	NM_022370.4(ROBO3):c.1151G>A (p.Gly384Glu)	ROBO3 (G384E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 996108	NM_022370.4(ROBO3):c.1158G>C (p.Gln386His)	ROBO3 (Q386H)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GLikely pathogenic

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