SEMA6B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 148645	GRCh38/hg38 19p13.3(chr19:3080621-4912622)x3	ANKRD24, APBA3 +223 more	Copy number gain	See cases	GLikely pathogenic
Select item 145080	GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1	LOC121852974, LOC125371451 +193 more	Copy number loss	See cases	GPathogenic
Select item 60071	GRCh38/hg38 19p13.3(chr19:3554635-4690965)x1	PIP5K1C, PLIN4 +142 more	Copy number loss	See cases	GPathogenic
Select item 155547	GRCh38/hg38 19p13.3(chr19:3788727-5147354)x1	ANKRD24, ARRDC5 +150 more	Copy number loss	See cases	GLikely pathogenic
Select item 144751	GRCh38/hg38 19p13.3(chr19:3947934-5196676)x3	ANKRD24, ARRDC5 +145 more	Copy number gain	See cases	GUncertain significance
Select item 59083	GRCh38/hg38 19p13.3(chr19:4008560-4763159)x3	ANKRD24, CHAF1A +99 more	Copy number gain	See cases	GPathogenic
Select item 57480	GRCh38/hg38 19p13.3(chr19:4417986-4721866)x1	CHAF1A, DPP9 +33 more	Copy number loss	See cases	GUncertain significance
Select item 2649065	NM_032108.4(SEMA6B):c.2642A>G (p.Asp881Gly)	SEMA6B (D881G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343782	NM_032108.4(SEMA6B):c.2638dup (p.Ala880fs)	SEMA6B (A880fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2355486	NM_032108.4(SEMA6B):c.2593G>T (p.Ala865Ser)	SEMA6B (A865S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3317397	NM_032108.4(SEMA6B):c.2567C>A (p.Pro856His)	SEMA6B (P856H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3159912	NM_032108.4(SEMA6B):c.2567C>T (p.Pro856Leu)	SEMA6B (P856L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2571978	NM_032108.4(SEMA6B):c.2555G>A (p.Gly852Asp)	SEMA6B (G852D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2375066	NM_032108.4(SEMA6B):c.2551A>T (p.Ser851Cys)	SEMA6B (S851C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2649066	NM_032108.4(SEMA6B):c.2527C>T (p.Leu843=)	SEMA6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2373044	NM_032108.4(SEMA6B):c.2524A>C (p.Thr842Pro)	SEMA6B (T842P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290449	NM_032108.4(SEMA6B):c.2516C>A (p.Pro839Gln)	SEMA6B (P839Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3159911	NM_032108.4(SEMA6B):c.2492G>T (p.Arg831Met)	SEMA6B (R831M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2629489	NM_032108.4(SEMA6B):c.2477C>T (p.Thr826Met)	SEMA6B (T826M)	Single nucleotide variant (missense variant)	SEMA6B-related disorder	GUncertain significance
Select item 2326433	NM_032108.4(SEMA6B):c.2443G>A (p.Asp815Asn)	SEMA6B (D815N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 756525	NM_032108.4(SEMA6B):c.2439C>G (p.Ala813=)	SEMA6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2238461	NM_032108.4(SEMA6B):c.2413A>G (p.Thr805Ala)	SEMA6B (T805A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3317398	NM_032108.4(SEMA6B):c.2386G>C (p.Asp796His)	SEMA6B (D796H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1709918	NM_032108.4(SEMA6B):c.2372C>G (p.Pro791Arg)	SEMA6B (P791R)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 11 +1 more	GConflicting classifications of pathogenicity
Select item 792322	NM_032108.4(SEMA6B):c.2364G>C (p.Pro788=)	SEMA6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2350112	NM_032108.4(SEMA6B):c.2358C>A (p.Asp786Glu)	SEMA6B (D786E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2096279	NM_032108.4(SEMA6B):c.2348C>T (p.Ser783Phe)	SEMA6B (S783F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2212749	NM_032108.4(SEMA6B):c.2342G>T (p.Arg781Leu)	SEMA6B (R781L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3233952	NM_032108.4(SEMA6B):c.2317C>T (p.Arg773Cys)	SEMA6B (R773C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534537	NM_032108.4(SEMA6B):c.2315G>C (p.Gly772Ala)	SEMA6B (G772A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2613849	NM_032108.4(SEMA6B):c.2314G>A (p.Gly772Ser)	SEMA6B (G772S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249023	NM_032108.4(SEMA6B):c.2312A>C (p.Asp771Ala)	SEMA6B (D771A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249022	NM_032108.4(SEMA6B):c.2305A>C (p.Thr769Pro)	SEMA6B (T769P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1697105	NM_032108.4(SEMA6B):c.2302C>T (p.Pro768Ser)	SEMA6B (P768S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2649067	NM_032108.4(SEMA6B):c.2296G>A (p.Gly766Arg)	SEMA6B (G766R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3035133	NM_032108.4(SEMA6B):c.2289C>T (p.Pro763=)	SEMA6B	Single nucleotide variant (synonymous variant)	SEMA6B-related disorder	GLikely benign
Select item 2311730	NM_032108.4(SEMA6B):c.2284C>A (p.Pro762Thr)	SEMA6B (P762T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3159910	NM_032108.4(SEMA6B):c.2275C>A (p.Pro759Thr)	SEMA6B (P759T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3159908	NM_032108.4(SEMA6B):c.2222T>C (p.Leu741Pro)	SEMA6B (L741P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480600	NM_032108.4(SEMA6B):c.2197C>T (p.Arg733Cys)	SEMA6B (R733C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3159907	NM_032108.4(SEMA6B):c.2182C>G (p.His728Asp)	SEMA6B (H728D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3365612	NM_032108.4(SEMA6B):c.2169GCACCC[1] (p.723PH[2])	SEMA6B	Microsatellite	not provided	GUncertain significance
Select item 2832271	NM_032108.4(SEMA6B):c.2170C>A (p.His724Asn)	SEMA6B (H724N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662273	NM_032108.4(SEMA6B):c.2141C>A (p.Pro714Gln)	SEMA6B (P714Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502447	NM_032108.4(SEMA6B):c.2138C>A (p.Thr713Lys)	SEMA6B (T713K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1334195	NM_032108.4(SEMA6B):c.2138C>T (p.Thr713Met)	SEMA6B (T713M)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 985953	NM_032108.4(SEMA6B):c.2134C>T (p.Gln712Ter)	SEMA6B (Q712*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GUncertain significance
Select item 2672736	NM_032108.4(SEMA6B):c.2126C>T (p.Thr709Met)	SEMA6B (T709M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1066363	NM_032108.4(SEMA6B):c.2125A>G (p.Thr709Ala)	SEMA6B (T709A)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3045968	NM_032108.4(SEMA6B):c.2115G>T (p.Gly705=)	SEMA6B	Single nucleotide variant (synonymous variant)	SEMA6B-related disorder	GLikely benign
Select item 2649068	NM_032108.4(SEMA6B):c.2112G>C (p.Ser704=)	SEMA6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1679783	NM_032108.4(SEMA6B):c.2111C>T (p.Ser704Leu)	SEMA6B (S704L)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 11	GUncertain significance
Select item 2379826	NM_032108.4(SEMA6B):c.2105T>C (p.Leu702Pro)	SEMA6B (L702P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3362544	NM_032108.4(SEMA6B):c.2096C>T (p.Pro699Leu)	SEMA6B (P699L)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 11	GUncertain significance
Select item 2430274	NM_032108.4(SEMA6B):c.2086C>T (p.Gln696Ter)	SEMA6B (Q696*)	Single nucleotide variant (nonsense)	Epilepsy, progressive myoclonic, 11	GLikely pathogenic
Select item 987384	NM_032108.4(SEMA6B):c.2067G>A (p.Trp689Ter)	SEMA6B (W689*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1339476	NM_032108.4(SEMA6B):c.2066G>A (p.Trp689Ter)	SEMA6B (W689*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1331335	NM_032108.4(SEMA6B):c.2062G>T (p.Gly688Cys)	SEMA6B (G688C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253144	NM_032108.4(SEMA6B):c.2056C>T (p.Gln686Ter)	SEMA6B (Q686*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2349539	NM_032108.4(SEMA6B):c.2053A>G (p.Met685Val)	SEMA6B (M685V)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2510405	NM_032108.4(SEMA6B):c.2041C>A (p.Leu681Met)	SEMA6B (L681M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613022	NM_032108.4(SEMA6B):c.2023G>C (p.Val675Leu)	SEMA6B (V675L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3027088	NM_032108.4(SEMA6B):c.2021G>A (p.Gly674Glu)	SEMA6B (G674E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2381398	NM_032108.4(SEMA6B):c.2018C>T (p.Ala673Val)	SEMA6B (A673V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 773772	NM_032108.4(SEMA6B):c.2006GTGGCG[3] (p.Gly671_Gly672dup)	SEMA6B	Microsatellite (inframe_insertion)	not provided	GBenign
Select item 2429390	NM_032108.4(SEMA6B):c.2000_2015del (p.Gly667fs)	SEMA6B (G667fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2355485	NM_032108.4(SEMA6B):c.2011G>A (p.Gly671Ser)	SEMA6B (G671S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2247716	NM_032108.4(SEMA6B):c.1997G>T (p.Gly666Val)	SEMA6B (G666V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579316	NM_032108.4(SEMA6B):c.1993del (p.Arg665fs)	SEMA6B (R665fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3159906	NM_032108.4(SEMA6B):c.1991G>C (p.Gly664Ala)	SEMA6B (G664A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 872934	NM_032108.4(SEMA6B):c.1991del (p.Gly664fs)	SEMA6B (G664fs)	Deletion (frameshift variant)	Epilepsy, progressive myoclonic, 11 +1 more	GPathogenic/Likely pathogenic
Select item 2310854	NM_032108.4(SEMA6B):c.1990G>A (p.Gly664Ser)	SEMA6B (G664S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2649069	NM_032108.4(SEMA6B):c.1986C>T (p.Pro662=)	SEMA6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1810151	NM_032108.4(SEMA6B):c.1978_1984delinsAAGGTT (p.Gln660fs)	SEMA6B (Q660fs)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 872933	NM_032108.4(SEMA6B):c.1976_1982del (p.Ala659fs)	SEMA6B (A659fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 781379	NM_032108.4(SEMA6B):c.1979A>C (p.Gln660Pro)	SEMA6B (Q660P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1708937	NM_032108.4(SEMA6B):c.1978C>T (p.Gln660Ter)	SEMA6B (Q660*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 872932	NM_032108.4(SEMA6B):c.1950_1969dup (p.Arg657fs)	SEMA6B (R657fs)	Duplication (frameshift variant)	Epilepsy, progressive myoclonic, 11	GPathogenic
Select item 2326779	NM_032108.4(SEMA6B):c.1967A>G (p.Glu656Gly)	SEMA6B (E656G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3159905	NM_032108.4(SEMA6B):c.1966G>A (p.Glu656Lys)	SEMA6B (E656K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1334134	NM_032108.4(SEMA6B):c.1966G>T (p.Glu656Ter)	SEMA6B (E656*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1321016	NM_032108.4(SEMA6B):c.1958del (p.Arg653fs)	SEMA6B (R653fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2254945	NM_032108.4(SEMA6B):c.1952T>A (p.Val651Asp)	SEMA6B (V651D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 727693	NM_032108.4(SEMA6B):c.1938G>A (p.Glu646=)	SEMA6B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2351711	NM_032108.4(SEMA6B):c.1931C>T (p.Ala644Val)	SEMA6B (A644V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1316022	NM_032108.4(SEMA6B):c.1930del (p.Ala644fs)	SEMA6B (A644fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3038541	NM_032108.4(SEMA6B):c.1923G>C (p.Ala641=)	SEMA6B	Single nucleotide variant (synonymous variant)	SEMA6B-related disorder	GLikely benign
Select item 985566	NM_032108.4(SEMA6B):c.1894del (p.Arg632fs)	SEMA6B (R632fs)	Deletion (frameshift variant)	Inborn genetic diseases	GUncertain significance
Select item 2455503	NM_032108.4(SEMA6B):c.1880G>A (p.Arg627Gln)	SEMA6B (R627Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1334194	NM_032108.4(SEMA6B):c.1873del (p.Arg625fs)	SEMA6B (R625fs)	Deletion (frameshift variant)	Epilepsy, progressive myoclonic, 11	GUncertain significance
Select item 3367926	NM_032108.4(SEMA6B):c.1855_1856del (p.Gly619fs)	SEMA6B (G619fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 632590	NM_032108.4(SEMA6B):c.1834G>A (p.Val612Met)	SEMA6B (V612M)	Single nucleotide variant (missense variant)	Congenital cerebellar hypoplasia +2 more	GUncertain significance
Select item 3038336	NM_032108.4(SEMA6B):c.1833C>T (p.Ala611=)	SEMA6B	Single nucleotide variant (synonymous variant)	SEMA6B-related disorder	GLikely benign
Select item 1316392	NM_032108.4(SEMA6B):c.1812GGC[1] (p.Ala606del)	SEMA6B (A606del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3355627	NM_032108.4(SEMA6B):c.1789A>G (p.Asn597Asp)	SEMA6B (N597D)	Single nucleotide variant (missense variant)	SEMA6B-related disorder	GUncertain significance
Select item 3159904	NM_032108.4(SEMA6B):c.1775G>T (p.Gly592Val)	SEMA6B (G592V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389503	NM_032108.4(SEMA6B):c.1768C>G (p.Arg590Gly)	SEMA6B (R590G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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