17208[HGNC] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 854

<< First< Prev

Page of 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001539, LOC130001540 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	BSPRY, C5 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC113839508, LOC113839509 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	FKBP15, FKTN +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC130001667, LOC130001668 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC116186942, LOC116186943 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC121366033, LOC121366034 +3785 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 59118	GRCh38/hg38 9q22.31-22.33(chr9:91596533-97018746)x1	AOPEP, ASPN +268 more	Copy number loss	See cases	GPathogenic
Select item 59902	GRCh38/hg38 9q22.31-22.33(chr9:92561720-98122580)x3	LOC132089736, LOC132089737 +313 more	Copy number gain	See cases	GPathogenic
Select item 1261177	NM_001003800.2(BICD2):c.*1789C>A	BICD2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1226082	NM_001003800.2(BICD2):c.*1499C>T	BICD2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1182885	NM_001003800.2(BICD2):c.*136G>A	BICD2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 387216	NM_001003800.2(BICD2):c.*20G>A	BICD2	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2151504	NM_001003800.2(BICD2):c.2563G>A (p.Asp855Asn)	BICD2 (D855N)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 2987352	NM_001003800.2(BICD2):c.2559C>T (p.Tyr853=)	BICD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 2910550	NM_001003800.2(BICD2):c.2547G>T (p.Lys849Asn)	BICD2 (K849N)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 1497175	NM_001003800.2(BICD2):c.2545A>C (p.Lys849Gln)	BICD2 (K849Q)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +1 more	GUncertain significance
Select item 703706	NM_001003800.2(BICD2):c.2544G>A (p.Glu848=)	BICD2	Single nucleotide variant (synonymous variant +1 more)	BICD2-related disorder +1 more	GBenign
Select item 1431579	NM_001003800.2(BICD2):c.2542G>A (p.Glu848Lys)	BICD2 (E848K)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 705199	NM_001003800.2(BICD2):c.2541C>T (p.Ser847=)	BICD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +1 more	GBenign/Likely benign
Select item 474276	NM_001003800.2(BICD2):c.2536T>C (p.Cys846Arg)	BICD2 (C846R)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 2995187	NM_001003800.2(BICD2):c.2527C>T (p.Gln843Ter)	BICD2 (Q843*)	Single nucleotide variant (nonsense +1 more)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 2785299	NM_001003800.2(BICD2):c.2527C>G (p.Gln843Glu)	BICD2 (Q843E)	Single nucleotide variant (intron variant +1 more)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 565422	NM_001003800.2(BICD2):c.2515G>A (p.Gly839Arg)	BICD2 (G839R)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +2 more	GConflicting classifications of pathogenicity
Select item 705841	NM_001003800.2(BICD2):c.2514C>T (p.Thr838=)	BICD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 2852735	NM_001003800.2(BICD2):c.2510G>T (p.Gly837Val)	BICD2 (G837V)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 665021	NM_001003800.2(BICD2):c.2506G>A (p.Glu836Lys)	BICD2 (E836K)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 772200	NM_001003800.2(BICD2):c.2505C>T (p.Ala835=)	BICD2	Single nucleotide variant (synonymous variant +1 more)	BICD2-related disorder +1 more	GLikely benign
Select item 1010886	NM_001003800.2(BICD2):c.2500A>G (p.Arg834Gly)	BICD2 (R834G)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 1792145	NM_001003800.2(BICD2):c.2497G>A (p.Asp833Asn)	BICD2 (D833N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2069830	NM_001003800.2(BICD2):c.2496C>T (p.Ser832=)	BICD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 2730659	NM_001003800.2(BICD2):c.2493C>T (p.Ala831=)	BICD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 862260	NM_001003800.2(BICD2):c.2485G>A (p.Ala829Thr)	BICD2 (A829T)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 2415703	NM_001003800.2(BICD2):c.2481C>G (p.Thr827=)	BICD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 2349494	NM_001003800.2(BICD2):c.2479A>G (p.Thr827Ala)	BICD2 (T827A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1791779	NM_001003800.2(BICD2):c.2470G>A (p.Val824Ile)	BICD2 (V824I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1044474	NM_001003800.2(BICD2):c.2470G>C (p.Val824Leu)	BICD2 (V824L)	Single nucleotide variant (splice donor variant +1 more)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 474275	NM_001003800.2(BICD2):c.2469C>T (p.Ser823=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GBenign
Select item 1036802	NM_001003800.2(BICD2):c.2468G>A (p.Ser823Asn)	BICD2 (S823N)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 567197	NM_001003800.2(BICD2):c.2465C>T (p.Pro822Leu)	BICD2 (P822L)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 643508	NM_001003800.2(BICD2):c.2461A>G (p.Thr821Ala)	BICD2 (T821A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 568510	NM_001003800.2(BICD2):c.2452A>G (p.Lys818Glu)	BICD2 (K818E)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +1 more	GLikely benign
Select item 386265	NM_001003800.2(BICD2):c.2445G>A (p.Pro815=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +4 more	GBenign/Likely benign
Select item 1791371	NM_001003800.2(BICD2):c.2444C>T (p.Pro815Leu)	BICD2 (P815L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3018389	NM_001003800.2(BICD2):c.2440G>A (p.Ala814Thr)	BICD2 (A814T)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 579572	NM_001003800.2(BICD2):c.2440G>T (p.Ala814Ser)	BICD2 (A814S)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +1 more	GLikely benign
Select item 2702230	NM_001003800.2(BICD2):c.2439C>T (p.Ala813=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 2799736	NM_001003800.2(BICD2):c.2431G>A (p.Ala811Thr)	BICD2 (A811T)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 574868	NM_001003800.2(BICD2):c.2429G>A (p.Arg810His)	BICD2 (R810H)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 1447123	NM_001003800.2(BICD2):c.2428C>T (p.Arg810Cys)	BICD2 (R810C)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 577249	NM_001003800.2(BICD2):c.2423G>A (p.Arg808His)	BICD2 (R808H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1001024	NM_001003800.2(BICD2):c.2422C>T (p.Arg808Cys)	BICD2 (R808C)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 585477	NM_001003800.2(BICD2):c.2420G>A (p.Arg807Gln)	BICD2 (R807Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 933578	NM_001003800.2(BICD2):c.2419C>T (p.Arg807Trp)	BICD2 (R807W)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 1976783	NM_001003800.2(BICD2):c.2412G>A (p.Glu804=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 1101736	NM_001003800.2(BICD2):c.2401C>T (p.Leu801=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 1790653	NM_001003800.2(BICD2):c.2398G>C (p.Glu800Gln)	BICD2 (E800Q)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +1 more	GUncertain significance
Select item 522125	NM_001003800.2(BICD2):c.2398G>A (p.Glu800Lys)	BICD2 (E800K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2104627	NM_001003800.2(BICD2):c.2397C>G (p.Leu799=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 744268	NM_001003800.2(BICD2):c.2397C>A (p.Leu799=)	BICD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 474273	NM_001003800.2(BICD2):c.2397C>T (p.Leu799=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +2 more	GBenign/Likely benign
Select item 701834	NM_001003800.2(BICD2):c.2386C>T (p.Leu796=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 650433	NM_001003800.2(BICD2):c.2384G>A (p.Arg795Gln)	BICD2 (R795Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 644642	NM_001003800.2(BICD2):c.2383C>T (p.Arg795Trp)	BICD2 (R795W)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +1 more	GUncertain significance
Select item 1085529	NM_001003800.2(BICD2):c.2373G>A (p.Ala791=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 2637043	NM_001003800.2(BICD2):c.2372C>G (p.Ala791Gly)	BICD2 (A791G)	Single nucleotide variant (missense variant)	BICD2-related disorder	GUncertain significance
Select item 1906717	NM_001003800.2(BICD2):c.2370G>A (p.Leu790=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 2659306	NM_001003800.2(BICD2):c.2368C>T (p.Leu790=)	BICD2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1985799	NM_001003800.2(BICD2):c.2364G>A (p.Gln788=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 1102793	NM_001003800.2(BICD2):c.2358C>A (p.Ile786=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 2197851	NM_001003800.2(BICD2):c.2355C>T (p.Ala785=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 541292	NM_001003800.2(BICD2):c.2350A>G (p.Met784Val)	BICD2 (M784V)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 578676	NM_001003800.2(BICD2):c.2347C>T (p.Arg783Cys)	BICD2 (R783C)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 2708879	NM_001003800.2(BICD2):c.2340G>T (p.Ser780=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 388943	NM_001003800.2(BICD2):c.2340G>A (p.Ser780=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +2 more	GLikely benign
Select item 950283	NM_001003800.2(BICD2):c.2339C>T (p.Ser780Leu)	BICD2 (S780L)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 1569838	NM_001003800.2(BICD2):c.2334G>A (p.Leu778=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 444774	NM_001003800.2(BICD2):c.2331G>A (p.Thr777=)	BICD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 660756	NM_001003800.2(BICD2):c.2329A>G (p.Thr777Ala)	BICD2 (T777A)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 1339070	NM_001003800.2(BICD2):c.2327A>C (p.Lys776Thr)	BICD2 (K776T)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 55860	NM_001003800.2(BICD2):c.2321A>G (p.Glu774Gly)	BICD2 (E774G)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 429371	NM_001003800.2(BICD2):c.2320G>A (p.Glu774Lys)	BICD2 (E774K)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 733301	NM_001003800.2(BICD2):c.2319C>T (p.Asp773=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 2133938	NM_001003800.2(BICD2):c.2314G>A (p.Glu772Lys)	BICD2 (E772K)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 2055269	NM_001003800.2(BICD2):c.2313T>A (p.Ala771=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GBenign
Select item 386459	NM_001003800.2(BICD2):c.2307G>A (p.Ala769=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +2 more	GLikely benign
Select item 855892	NM_001003800.2(BICD2):c.2306C>T (p.Ala769Val)	BICD2 (A769V)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 859802	NM_001003800.2(BICD2):c.2258+757_2305del	BICD2	Deletion (splice acceptor variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 724828	NM_001003800.2(BICD2):c.2301G>A (p.Gln767=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 648778	NM_001003800.2(BICD2):c.2297G>A (p.Arg766Gln)	BICD2 (R766Q)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 155751	NM_001003800.2(BICD2):c.2296C>T (p.Arg766Trp)	BICD2 (R766W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1025096	NM_001003800.2(BICD2):c.2294A>G (p.Gln765Arg)	BICD2 (Q765R)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 960931	NM_001003800.2(BICD2):c.2285A>T (p.Asp762Val)	BICD2 (D762V)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 967784	NM_001003800.2(BICD2):c.2272A>G (p.Ile758Val)	BICD2 (I758V)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 474272	NM_001003800.2(BICD2):c.2265C>T (p.Asp755=)	BICD2	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign

<< First< Prev

Page of 9