463[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059466, LOC130059467 +1738 more	Copy number gain	See cases	GPathogenic
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	LOC128772417, LOC128772418 +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	ACD, ACSF3 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC130059153, LOC130059154 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	AARS1, ACD +869 more	Copy number gain	See cases	GPathogenic
Select item 59495	GRCh38/hg38 16q22.1-23.1(chr16:68698941-74353205)x1	AARS1, AP1G1 +263 more	Copy number loss	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	AARS1, ADAMTS18 +572 more	Copy number gain	See cases	GPathogenic
Select item 59514	GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1	AARS1, ADAT1 +295 more	Copy number loss	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	LOC100129617, LOC100506281 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	HSBP1, HSD17B2 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	ACSF3, ADAD2 +1031 more	Copy number gain	See cases	GPathogenic
Select item 59995	GRCh38/hg38 16q22.2-22.3(chr16:71279916-73246687)x3	AP1G1, ATXN1L +99 more	Copy number gain	See cases	GUncertain significance
Select item 154624	GRCh38/hg38 16q22.2-22.3(chr16:72253272-72817271)x1	LINC01572, LOC110120572 +17 more	Copy number loss	See cases	GUncertain significance
Select item 2240480	NM_006885.4(ZFHX3):c.11048A>C (p.Lys3683Thr)	ZFHX3-AS1, ZFHX3 (K2769T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2646810	NM_006885.4(ZFHX3):c.10974C>T (p.Asp3658=)	ZFHX3, ZFHX3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2234762	NM_006885.4(ZFHX3):c.10921G>A (p.Val3641Ile)	ZFHX3, ZFHX3-AS1 (V3641I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2646811	NM_006885.4(ZFHX3):c.10872T>C (p.Ala3624=)	ZFHX3, ZFHX3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	ZFHX3-related condition +1 more	GBenign/Likely benign
Select item 2597291	NM_006885.4(ZFHX3):c.10853C>T (p.Pro3618Leu)	ZFHX3, ZFHX3-AS1 (P2704L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2592194	NM_006885.4(ZFHX3):c.10832A>T (p.His3611Leu)	ZFHX3, ZFHX3-AS1 (H3611L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 769903	NM_006885.4(ZFHX3):c.10831C>T (p.His3611Tyr)	ZFHX3, ZFHX3-AS1 (H2697Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3034363	NM_006885.4(ZFHX3):c.10830C>G (p.Pro3610=)	ZFHX3, ZFHX3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	ZFHX3-related condition	GBenign
Select item 2545242	NM_006885.4(ZFHX3):c.10799C>T (p.Pro3600Leu)	ZFHX3, ZFHX3-AS1 (P3600L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3050798	NM_006885.4(ZFHX3):c.10794T>G (p.Pro3598=)	ZFHX3, ZFHX3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	ZFHX3-related condition	GLikely benign
Select item 2512258	NM_006885.4(ZFHX3):c.10782C>G (p.Asn3594Lys)	ZFHX3, ZFHX3-AS1 (N3594K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2598461	NM_006885.4(ZFHX3):c.10685C>G (p.Ala3562Gly)	ZFHX3, ZFHX3-AS1 (A2648G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463437	NM_006885.4(ZFHX3):c.10628C>G (p.Ala3543Gly)	ZFHX3, ZFHX3-AS1 (A2629G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358560	NM_006885.4(ZFHX3):c.10583C>G (p.Ser3528Trp)	ZFHX3-AS1, ZFHX3 (S2614W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3056720	NM_006885.4(ZFHX3):c.10558GGC[9] (p.Gly3527_Ser3528insGly)	ZFHX3, ZFHX3-AS1	Microsatellite (inframe_insertion)	ZFHX3-related condition	GBenign
Select item 3037355	NM_006885.4(ZFHX3):c.10558GGC[10] (p.Gly3527_Ser3528insGlyGly)	ZFHX3, ZFHX3-AS1	Microsatellite (inframe_insertion)	ZFHX3-related condition	GBenign
Select item 3058928	NM_006885.4(ZFHX3):c.10558GGC[5] (p.Gly3525_Gly3527del)	ZFHX3, ZFHX3-AS1	Microsatellite (inframe deletion)	ZFHX3-related condition	GBenign
Select item 3057090	NM_006885.4(ZFHX3):c.10558GGC[7] (p.Gly3527del)	ZFHX3, ZFHX3-AS1 (G2613del +1 more)	Microsatellite (inframe_deletion)	ZFHX3-related condition	GBenign
Select item 3034404	NM_006885.4(ZFHX3):c.10558GGC[6] (p.Gly3526_Gly3527del)	ZFHX3, ZFHX3-AS1	Microsatellite (inframe deletion)	ZFHX3-related condition	GBenign
Select item 2532270	NM_006885.4(ZFHX3):c.10579G>T (p.Gly3527Cys)	ZFHX3, ZFHX3-AS1 (G3527C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 714560	NM_006885.4(ZFHX3):c.10539TGGCGGCGGCGGCGGCGG[1] (p.Gly3522_Gly3527del)	ZFHX3, ZFHX3-AS1	Microsatellite (inframe_deletion)	ZFHX3-related condition +1 more	GBenign/Likely benign
Select item 3049870	NM_006885.4(ZFHX3):c.10557_10568del (p.Gly3524_Gly3527del)	ZFHX3, ZFHX3-AS1	Deletion (inframe deletion)	ZFHX3-related condition	GLikely benign
Select item 2646812	NM_006885.4(ZFHX3):c.10557_10562del (p.Gly3526_Gly3527del)	ZFHX3, ZFHX3-AS1	Deletion (inframe_deletion)	ZFHX3-related condition +1 more	GBenign/Likely benign
Select item 2646813	NM_006885.4(ZFHX3):c.10537_10560del (p.Ser3513_Gly3520del)	ZFHX3, ZFHX3-AS1	Deletion (inframe_deletion)	ZFHX3-related condition +1 more	GBenign/Likely benign
Select item 3053773	NM_006885.4(ZFHX3):c.10542CGG[7] (p.Gly3527_Ser3528insGlyGly)	ZFHX3, ZFHX3-AS1	Microsatellite (inframe insertion)	ZFHX3-related condition	GLikely benign
Select item 3051169	NM_006885.4(ZFHX3):c.10542CGG[6] (p.Gly3527_Ser3528insGly)	ZFHX3, ZFHX3-AS1	Microsatellite (inframe insertion)	ZFHX3-related condition	GLikely benign
Select item 2512718	NM_006885.4(ZFHX3):c.10557T>C (p.Gly3519=)	ZFHX3, ZFHX3-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3060370	NM_006885.4(ZFHX3):c.10542CGG[4] (p.Gly3527del)	ZFHX3, ZFHX3-AS1 (G2613del +1 more)	Microsatellite (inframe_deletion)	ZFHX3-related condition	GBenign
Select item 3054141	NM_006885.4(ZFHX3):c.10553_10554insTGG (p.Gly3527_Ser3528insGly)	ZFHX3, ZFHX3-AS1	Insertion (inframe insertion)	ZFHX3-related condition	GLikely benign
Select item 2534769	NM_006885.4(ZFHX3):c.10549G>A (p.Gly3517Ser)	ZFHX3, ZFHX3-AS1 (G2603S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3043508	NM_006885.4(ZFHX3):c.10537_10542dup (p.Gly3514_Gly3515insSerGly)	ZFHX3, ZFHX3-AS1	Duplication (inframe insertion)	ZFHX3-related condition	GBenign
Select item 3038239	NM_006885.4(ZFHX3):c.10539T>C (p.Ser3513=)	ZFHX3, ZFHX3-AS1	Single nucleotide variant (synonymous variant)	ZFHX3-related condition	GLikely benign
Select item 3043776	NM_006885.4(ZFHX3):c.10537A>G (p.Ser3513Gly)	ZFHX3, ZFHX3-AS1 (S2599G +1 more)	Single nucleotide variant (missense variant)	ZFHX3-related condition	GBenign
Select item 2646814	NM_006885.4(ZFHX3):c.10533_10535del (p.Gly3512del)	ZFHX3, ZFHX3-AS1 (G2598del +1 more)	Deletion (inframe_deletion)	not provided +1 more	GBenign
Select item 3044493	NM_006885.4(ZFHX3):c.10533T>C (p.Gly3511=)	ZFHX3, ZFHX3-AS1	Single nucleotide variant (synonymous variant)	ZFHX3-related condition	GLikely benign
Select item 2646815	NM_006885.4(ZFHX3):c.10518CGG[3] (p.Gly3511_Gly3512del)	ZFHX3, ZFHX3-AS1	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 3050722	NM_006885.4(ZFHX3):c.10519G>C (p.Gly3507Arg)	ZFHX3, ZFHX3-AS1 (G3507R +1 more)	Single nucleotide variant (missense variant)	ZFHX3-related condition	GBenign
Select item 2218503	NM_006885.4(ZFHX3):c.10484T>A (p.Val3495Glu)	ZFHX3-AS1, ZFHX3 (V2581E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407924	NM_006885.4(ZFHX3):c.10470C>G (p.Phe3490Leu)	ZFHX3-AS1, ZFHX3 (F2576L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3049574	NM_006885.4(ZFHX3):c.10440G>A (p.Ala3480=)	ZFHX3, ZFHX3-AS1	Single nucleotide variant (synonymous variant)	ZFHX3-related condition	GLikely benign
Select item 2537864	NM_006885.4(ZFHX3):c.10415C>T (p.Ala3472Val)	ZFHX3, ZFHX3-AS1 (A2558V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214744	NM_006885.4(ZFHX3):c.10300C>G (p.Leu3434Val)	ZFHX3, ZFHX3-AS1 (L2520V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534397	NM_006885.4(ZFHX3):c.10283C>G (p.Pro3428Arg)	ZFHX3, ZFHX3-AS1 (P2514R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 808082	NM_006885.4(ZFHX3):c.10259A>G (p.Lys3420Arg)	ZFHX3, ZFHX3-AS1 (K2506R +1 more)	Single nucleotide variant (missense variant)	ZFHX3-related condition +1 more	GBenign/Likely benign
Select item 2534767	NM_006885.4(ZFHX3):c.10222C>G (p.Pro3408Ala)	ZFHX3, ZFHX3-AS1 (P2494A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 779970	NM_006885.4(ZFHX3):c.10215C>G (p.Pro3405=)	ZFHX3, ZFHX3-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2378092	NM_006885.4(ZFHX3):c.10210C>T (p.Pro3404Ser)	ZFHX3-AS1, ZFHX3 (P2490S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386817	NM_006885.4(ZFHX3):c.10196G>C (p.Ser3399Thr)	ZFHX3, ZFHX3-AS1 (S3399T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2646816	NM_006885.4(ZFHX3):c.10166_10186del (p.Gln3389_Gln3395del)	ZFHX3, ZFHX3-AS1	Deletion (inframe_deletion)	not provided	GBenign
Select item 18167	NM_006885.4(ZFHX3):c.10142_10165del (p.Arg3381_Gln3388del)	ZFHX3, ZFHX3-AS1	Deletion (inframe_deletion)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 808084	NM_006885.4(ZFHX3):c.10142_10162del (p.Arg3381_Gln3387del)	ZFHX3, ZFHX3-AS1	Deletion (inframe_deletion)	not provided +1 more	GBenign/Likely benign
Select item 3034188	NM_006885.4(ZFHX3):c.10127AGC[6] (p.Gln3380_Arg3381insGln)	ZFHX3, ZFHX3-AS1	Microsatellite (inframe insertion)	ZFHX3-related condition	GBenign
Select item 2468108	NM_006885.4(ZFHX3):c.10019G>A (p.Gly3340Asp)	ZFHX3, ZFHX3-AS1 (G3340D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621403	NM_006885.4(ZFHX3):c.9929A>G (p.Tyr3310Cys)	ZFHX3, ZFHX3-AS1 (Y2396C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3060173	NM_006885.4(ZFHX3):c.9879C>T (p.Ala3293=)	ZFHX3, ZFHX3-AS1	Single nucleotide variant (synonymous variant)	ZFHX3-related condition	GBenign
Select item 2512645	NM_006885.4(ZFHX3):c.9866A>G (p.Gln3289Arg)	ZFHX3, ZFHX3-AS1 (Q3289R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240410	NM_006885.4(ZFHX3):c.9832A>T (p.Thr3278Ser)	ZFHX3, ZFHX3-AS1 (T2364S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2646817	NM_006885.4(ZFHX3):c.9824C>T (p.Pro3275Leu)	ZFHX3, ZFHX3-AS1 (P2361L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2380845	NM_006885.4(ZFHX3):c.9658C>T (p.Pro3220Ser)	ZFHX3-AS1, ZFHX3 (P2306S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1805337	NM_006885.4(ZFHX3):c.9643_9657del (p.Ala3215_Pro3219del)	ZFHX3, ZFHX3-AS1	Deletion (inframe_deletion)	Neurodevelopmental disorder	GUncertain significance
Select item 2542037	NM_006885.4(ZFHX3):c.9653C>T (p.Pro3218Leu)	ZFHX3, ZFHX3-AS1 (P3218L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311015	NM_006885.4(ZFHX3):c.9651G>C (p.Gln3217His)	ZFHX3-AS1, ZFHX3 (Q3217H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344910	NM_006885.4(ZFHX3):c.9635C>T (p.Pro3212Leu)	ZFHX3, ZFHX3-AS1 (P2298L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214403	NM_006885.4(ZFHX3):c.9635C>A (p.Pro3212Gln)	ZFHX3-AS1, ZFHX3 (P2298Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3050044	NM_006885.4(ZFHX3):c.9591GCA[10] (p.Gln3204_Pro3205insGlnGlnGln)	ZFHX3, ZFHX3-AS1	Microsatellite (inframe insertion)	ZFHX3-related condition	GBenign
Select item 3041487	NM_006885.4(ZFHX3):c.9591GCA[8] (p.Gln3204_Pro3205insGln)	ZFHX3, ZFHX3-AS1	Microsatellite (inframe insertion)	ZFHX3-related condition	GBenign
Select item 3038929	NM_006885.4(ZFHX3):c.9591GCA[5] (p.Gln3203_Gln3204del)	ZFHX3, ZFHX3-AS1	Microsatellite (inframe deletion)	ZFHX3-related condition	GBenign
Select item 2211161	NM_006885.4(ZFHX3):c.9590A>T (p.Gln3197Leu)	ZFHX3-AS1, ZFHX3 (Q2283L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2646818	NM_006885.4(ZFHX3):c.9584C>T (p.Pro3195Leu)	ZFHX3, ZFHX3-AS1 (P2281L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 708702	NM_006885.4(ZFHX3):c.9530C>T (p.Ser3177Leu)	ZFHX3, ZFHX3-AS1 (S2263L +1 more)	Single nucleotide variant (missense variant)	ZFHX3-related condition +1 more	GBenign
Select item 3050988	NM_006885.4(ZFHX3):c.9483C>T (p.Ser3161=)	ZFHX3, ZFHX3-AS1	Single nucleotide variant (synonymous variant)	ZFHX3-related condition	GLikely benign
Select item 2589326	NM_006885.4(ZFHX3):c.9469A>C (p.Thr3157Pro)	ZFHX3, ZFHX3-AS1 (T3157P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2646819	NM_006885.4(ZFHX3):c.9459T>C (p.Gly3153=)	ZFHX3, ZFHX3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2548676	NM_006885.4(ZFHX3):c.9296G>A (p.Gly3099Glu)	ZFHX3, ZFHX3-AS1 (G3099E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508700	NM_006885.4(ZFHX3):c.9247C>T (p.Arg3083Trp)	ZFHX3, ZFHX3-AS1 (R3083W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3052476	NM_006885.4(ZFHX3):c.9241T>C (p.Leu3081=)	ZFHX3, ZFHX3-AS1	Single nucleotide variant (synonymous variant)	ZFHX3-related condition	GLikely benign
Select item 2646820	NM_006885.4(ZFHX3):c.9223T>C (p.Leu3075=)	ZFHX3, ZFHX3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2533434	NM_006885.4(ZFHX3):c.9037G>C (p.Gly3013Arg)	ZFHX3, ZFHX3-AS1 (G3013R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552327	NM_006885.4(ZFHX3):c.8918T>C (p.Met2973Thr)	ZFHX3, ZFHX3-AS1 (M2973T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3059241	NM_006885.4(ZFHX3):c.8823A>G (p.Gly2941=)	ZFHX3, ZFHX3-AS1	Single nucleotide variant (synonymous variant)	ZFHX3-related condition	GBenign
Select item 2274814	NM_006885.4(ZFHX3):c.8806A>C (p.Lys2936Gln)	ZFHX3, ZFHX3-AS1 (K2936Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2646821	NM_006885.4(ZFHX3):c.8789C>T (p.Ala2930Val)	ZFHX3, ZFHX3-AS1 (A2016V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2232770	NM_006885.4(ZFHX3):c.8788G>A (p.Ala2930Thr)	ZFHX3-AS1, ZFHX3 (A2930T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 225012	NM_006885.4(ZFHX3):c.8707A>G (p.Ser2903Gly)	ZFHX3, ZFHX3-AS1 (S2903G +1 more)	Single nucleotide variant (missense variant)	ZFHX3-related condition +1 more	GLikely benign
Select item 2591273	NM_006885.4(ZFHX3):c.8672C>T (p.Ser2891Leu)	ZFHX3, ZFHX3-AS1 (S1977L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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