7546[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	ABR, ABR-AS1 +463 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR4521, MIR497 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	OR1D4, OR1D5 +651 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	C17orf107, C17orf114 +498 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC130060025, LOC130060026 +458 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	ABR, ABR-AS1 +604 more	Copy number gain	See cases	GPathogenic
Select item 153060	GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1	ABR, ABR-AS1 +352 more	Copy number loss	See cases	GPathogenic
Select item 144239	GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1	ALOX15, ANKFY1 +303 more	Copy number loss	See cases	GPathogenic
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	LOC130060037, LOC130060038 +291 more	Copy number loss	See cases	GPathogenic
Select item 153733	GRCh38/hg38 17p13.2(chr17:3928523-4637233)x3	ALOX15, ANKFY1 +42 more	Copy number gain	See cases	GLikely benign
Select item 146235	GRCh38/hg38 17p13.2(chr17:4044302-5943772)x1	ALOX15, ANKFY1 +166 more	Copy number loss	See cases	GLikely pathogenic
Select item 145539	GRCh38/hg38 17p13.2(chr17:4044302-4616762)x3	ANKFY1, CYB5D2 +28 more	Copy number gain	See cases	GUncertain significance
Select item 150854	GRCh38/hg38 17p13.2(chr17:4092608-5354473)x3	ALOX15, ANKFY1 +141 more	Copy number gain	See cases	GLikely benign
Select item 154947	GRCh38/hg38 17p13.2(chr17:4141725-4873241)x3	ALOX15, ANKFY1 +70 more	Copy number gain	See cases	GUncertain significance
Select item 148440	GRCh38/hg38 17p13.2(chr17:4141725-4778120)x1	ALOX15, ANKFY1 +57 more	Copy number loss	See cases	GUncertain significance
Select item 60131	GRCh38/hg38 17p13.2(chr17:4201600-4574195)x3	ANKFY1, GGT6 +20 more	Copy number gain	See cases	GUncertain significance
Select item 146057	GRCh38/hg38 17p13.2(chr17:4217106-4538953)x3	ANKFY1, LOC121587571 +17 more	Copy number gain	See cases	GUncertain significance
Select item 147907	GRCh38/hg38 17p13.2(chr17:4289368-4634221)x3	ALOX15, GGT6 +19 more	Copy number gain	See cases	GUncertain significance
Select item 155206	GRCh38/hg38 17p13.2(chr17:4378892-4687204)x1	ALOX15, GGT6 +26 more	Copy number loss	See cases	GUncertain significance
Select item 3153435	NM_014520.4(MYBBP1A):c.3899C>T (p.Ala1300Val)	MYBBP1A (A1300V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768823	NM_014520.4(MYBBP1A):c.3896A>G (p.Lys1299Arg)	MYBBP1A (K1299R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2349708	NM_014520.4(MYBBP1A):c.3889C>T (p.Arg1297Trp)	MYBBP1A (R1297W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367033	NM_014520.4(MYBBP1A):c.3806C>T (p.Thr1269Met)	MYBBP1A (T1269M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647260	NM_014520.4(MYBBP1A):c.3789A>T (p.Gly1263=)	MYBBP1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2374861	NM_014520.4(MYBBP1A):c.3773C>T (p.Pro1258Leu)	MYBBP1A (P1258L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 715079	NM_014520.4(MYBBP1A):c.3766C>T (p.Gln1256Ter)	MYBBP1A (Q1256*)	Single nucleotide variant (nonsense)	not provided	GBenign
Select item 2359313	NM_014520.4(MYBBP1A):c.3719G>C (p.Arg1240Pro)	MYBBP1A (R1240P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153425	NM_014520.4(MYBBP1A):c.3718C>T (p.Arg1240Trp)	MYBBP1A (R1240W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489039	NM_014520.4(MYBBP1A):c.3713C>T (p.Pro1238Leu)	MYBBP1A (P1238L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395618	NM_014520.4(MYBBP1A):c.3710C>T (p.Ala1237Val)	MYBBP1A (A1237V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392849	NM_014520.4(MYBBP1A):c.3644G>A (p.Arg1215Lys)	MYBBP1A (R1215K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3153421	NM_014520.4(MYBBP1A):c.3641A>G (p.Asn1214Ser)	MYBBP1A (N1214S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219909	NM_014520.4(MYBBP1A):c.3633G>C (p.Lys1211Asn)	MYBBP1A (K1211N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153416	NM_014520.4(MYBBP1A):c.3626G>A (p.Gly1209Asp)	MYBBP1A (G1209D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456578	NM_014520.4(MYBBP1A):c.3587C>T (p.Thr1196Ile)	MYBBP1A (T1196I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153411	NM_014520.4(MYBBP1A):c.3541C>T (p.Arg1181Cys)	MYBBP1A (R1181C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153408	NM_014520.4(MYBBP1A):c.3533C>T (p.Thr1178Met)	MYBBP1A (T1178M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540740	NM_014520.4(MYBBP1A):c.3506G>A (p.Arg1169Gln)	MYBBP1A (R1169Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709927	NM_014520.4(MYBBP1A):c.3492C>T (p.Pro1164=)	MYBBP1A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2347521	NM_014520.4(MYBBP1A):c.3461C>G (p.Ala1154Gly)	MYBBP1A (A1154G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551068	NM_014520.4(MYBBP1A):c.3454A>G (p.Lys1152Glu)	MYBBP1A (K1152E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153388	NM_014520.4(MYBBP1A):c.3437G>A (p.Arg1146His)	MYBBP1A (R1146H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237926	NM_014520.4(MYBBP1A):c.3436C>T (p.Arg1146Cys)	MYBBP1A (R1146C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153380	NM_014520.4(MYBBP1A):c.3427G>A (p.Gly1143Arg)	MYBBP1A (G1143R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 739324	NM_014520.4(MYBBP1A):c.3424C>G (p.Leu1142Val)	MYBBP1A (L1142V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2510452	NM_014520.4(MYBBP1A):c.3397G>C (p.Asp1133His)	MYBBP1A (D1133H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153371	NM_014520.4(MYBBP1A):c.3388C>T (p.Arg1130Cys)	MYBBP1A (R1130C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349500	NM_014520.4(MYBBP1A):c.3379G>A (p.Gly1127Ser)	MYBBP1A (G1127S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3238925	NM_014520.4(MYBBP1A):c.3349C>T (p.Gln1117Ter)	MYBBP1A (Q1117*)	Single nucleotide variant (nonsense)	Meniere disease	GUncertain significance
Select item 787565	NM_014520.4(MYBBP1A):c.3317C>T (p.Thr1106Met)	MYBBP1A (T1106M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2335453	NM_014520.4(MYBBP1A):c.3314T>C (p.Leu1105Pro)	MYBBP1A (L1105P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153361	NM_014520.4(MYBBP1A):c.3269A>G (p.Asn1090Ser)	MYBBP1A (N1090S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517963	NM_014520.4(MYBBP1A):c.3230C>T (p.Ala1077Val)	MYBBP1A (A1077V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377691	NM_014520.4(MYBBP1A):c.3226A>G (p.Lys1076Glu)	MYBBP1A (K1076E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153350	NM_014520.4(MYBBP1A):c.3211G>A (p.Gly1071Arg)	MYBBP1A (G1071R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768824	NM_014520.4(MYBBP1A):c.3205G>A (p.Val1069Met)	MYBBP1A (V1069M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3153347	NM_014520.4(MYBBP1A):c.3202C>G (p.Arg1068Gly)	MYBBP1A (R1068G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489038	NM_014520.4(MYBBP1A):c.3193G>A (p.Glu1065Lys)	MYBBP1A (E1065K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408615	NM_014520.4(MYBBP1A):c.3151G>A (p.Glu1051Lys)	MYBBP1A (E1051K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153342	NM_014520.4(MYBBP1A):c.3134C>T (p.Ser1045Leu)	MYBBP1A (S1045L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3153337	NM_014520.4(MYBBP1A):c.3121C>T (p.Arg1041Trp)	MYBBP1A (R1041W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215767	NM_014520.4(MYBBP1A):c.3074G>A (p.Arg1025Gln)	MYBBP1A (R1025Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153330	NM_014520.4(MYBBP1A):c.3068C>T (p.Pro1023Leu)	MYBBP1A (P1023L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153321	NM_014520.4(MYBBP1A):c.3055C>T (p.His1019Tyr)	MYBBP1A (H1019Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153315	NM_014520.4(MYBBP1A):c.3054G>T (p.Gln1018His)	MYBBP1A (Q1018H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280737	NM_014520.4(MYBBP1A):c.3043A>G (p.Ile1015Val)	MYBBP1A (I1015V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2647261	NM_014520.4(MYBBP1A):c.3018G>A (p.Pro1006=)	MYBBP1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3153307	NM_014520.4(MYBBP1A):c.3001C>T (p.Leu1001Phe)	MYBBP1A (L1001F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3238927	NM_014520.4(MYBBP1A):c.2906T>A (p.Leu969Ter)	MYBBP1A (L969*)	Single nucleotide variant (nonsense)	Meniere disease	GUncertain significance
Select item 2562318	NM_014520.4(MYBBP1A):c.2855C>G (p.Ala952Gly)	MYBBP1A (A952G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153302	NM_014520.4(MYBBP1A):c.2792T>C (p.Leu931Pro)	MYBBP1A (L931P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224561	NM_014520.4(MYBBP1A):c.2776G>A (p.Ala926Thr)	MYBBP1A (A926T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484835	NM_014520.4(MYBBP1A):c.2774A>G (p.Asn925Ser)	MYBBP1A (N925S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719087	NM_014520.4(MYBBP1A):c.2757C>T (p.Thr919=)	MYBBP1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2403232	NM_014520.4(MYBBP1A):c.2756C>T (p.Thr919Ile)	MYBBP1A (T919I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512789	NM_014520.4(MYBBP1A):c.2737C>T (p.Arg913Cys)	MYBBP1A (R913C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153288	NM_014520.4(MYBBP1A):c.2717G>A (p.Arg906Gln)	MYBBP1A (R906Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153282	NM_014520.4(MYBBP1A):c.2704G>A (p.Ala902Thr)	MYBBP1A (A902T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 781853	NM_014520.4(MYBBP1A):c.2688C>T (p.Arg896=)	MYBBP1A	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3153276	NM_014520.4(MYBBP1A):c.2686C>T (p.Arg896Cys)	MYBBP1A (R896C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2598222	NM_014520.4(MYBBP1A):c.2674G>A (p.Asp892Asn)	MYBBP1A (D892N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603008	NM_014520.4(MYBBP1A):c.2660G>A (p.Arg887Gln)	MYBBP1A (R887Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153263	NM_014520.4(MYBBP1A):c.2656G>C (p.Ala886Pro)	MYBBP1A (A886P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214645	NM_014520.4(MYBBP1A):c.2654G>A (p.Arg885His)	MYBBP1A (R885H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208433	NM_014520.4(MYBBP1A):c.2630G>A (p.Arg877His)	MYBBP1A (R877H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789652	NM_014520.4(MYBBP1A):c.2629C>T (p.Arg877Cys)	MYBBP1A (R877C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2390825	NM_014520.4(MYBBP1A):c.2582G>A (p.Arg861His)	MYBBP1A (R861H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401842	NM_014520.4(MYBBP1A):c.2572C>T (p.Arg858Cys)	MYBBP1A (R858C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153246	NM_014520.4(MYBBP1A):c.2569C>T (p.Arg857Trp)	MYBBP1A (R857W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153242	NM_014520.4(MYBBP1A):c.2552C>G (p.Pro851Arg)	MYBBP1A (P851R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3238928	NM_014520.4(MYBBP1A):c.2551C>T (p.Pro851Ser)	MYBBP1A (P851S)	Single nucleotide variant (missense variant)	Meniere disease	GUncertain significance
Select item 2489148	NM_014520.4(MYBBP1A):c.2491C>A (p.Leu831Met)	MYBBP1A (L831M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791339	NM_014520.4(MYBBP1A):c.2482G>C (p.Val828Leu)	MYBBP1A (V828L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3153236	NM_014520.4(MYBBP1A):c.2480G>A (p.Arg827Gln)	MYBBP1A (R827Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461983	NM_014520.4(MYBBP1A):c.2479C>T (p.Arg827Trp)	MYBBP1A (R827W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710102	NM_014520.4(MYBBP1A):c.2478C>A (p.Ile826=)	MYBBP1A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2590123	NM_014520.4(MYBBP1A):c.2464C>T (p.Arg822Cys)	MYBBP1A (R822C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153225	NM_014520.4(MYBBP1A):c.2462G>A (p.Arg821Gln)	MYBBP1A (R821Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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