ClinVar for Gene (Select 93627) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 832

<< First< Prev

Page of 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377594	NM_001163435.3(TBCK):c.1350+1del	TBCK	Deletion (splice donor variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GLikely pathogenic
Select item 3375710	NM_001163435.3(TBCK):c.1823T>C (p.Leu608Pro)	TBCK (L436P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362618	NM_001163435.3(TBCK):c.305delinsCATTTGAGGTTCTTC (p.Gln102fs)	TBCK (Q102fs)	Indel (frameshift variant +2 more)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GPathogenic
Select item 3356108	NM_001163435.3(TBCK):c.1640G>A (p.Gly547Asp)	TBCK (G375D +3 more)	Single nucleotide variant (missense variant)	TBCK-related disorder	GUncertain significance
Select item 3344587	NM_001163435.3(TBCK):c.931+1G>A	TBCK	Single nucleotide variant (splice donor variant)	TBCK-related disorder	GLikely pathogenic
Select item 3341437	NM_001163435.3(TBCK):c.760C>T (p.Leu254Phe)	TBCK (L191F +3 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GUncertain significance
Select item 3324779	NM_001163435.3(TBCK):c.2191C>T (p.Pro731Ser)	TBCK (P668S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324778	NM_001163435.3(TBCK):c.2285G>A (p.Arg762Gln)	TBCK (R699Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324777	NM_001163435.3(TBCK):c.173A>C (p.Asp58Ala)	TBCK (D58A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3324776	NM_001163435.3(TBCK):c.784C>A (p.Pro262Thr)	TBCK (P223T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324775	NM_001163435.3(TBCK):c.1865A>G (p.Tyr622Cys)	TBCK (Y622C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324774	NM_001163435.3(TBCK):c.1025A>G (p.Asn342Ser)	TBCK (N342S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324773	NM_001163435.3(TBCK):c.1613C>A (p.Ser538Tyr)	TBCK (S366Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3246723	NC_000004.11:g.(?_107114746)_(107183389_?)dup	TBCK	Duplication	not provided	GLikely pathogenic
Select item 3246722	NC_000004.11:g.(?_107181574)_(107216343_?)dup	TBCK	Duplication	not provided	GLikely pathogenic
Select item 3246721	NC_000004.11:g.(?_107114746)_(107134012_?)dup	TBCK	Duplication	not provided	GUncertain significance
Select item 3246720	NC_000004.11:g.(?_107114746)_(107181687_?)del	TBCK	Deletion	not provided	GPathogenic
Select item 3246719	NC_000004.11:g.(?_107216231)_(107216343_?)del	TBCK	Deletion	not provided	GPathogenic
Select item 3233844	NM_001163435.3(TBCK):c.931G>A (p.Asp311Asn)	TBCK (D139N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3233843	NC_000004.11:g.107169414_(107183370_107216250)del	TBCK	Deletion	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GLikely pathogenic
Select item 3233781	NC_000004.11:g.(107169464_107170077)_(107183370_107216250)del	TBCK	Deletion	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GPathogenic
Select item 3233645	NC_000004.11:g.(106967838_107016638)_(107092428_107114765)del	TBCK	Deletion	not specified	GUncertain significance
Select item 3174799	NM_001163435.3(TBCK):c.910G>A (p.Asp304Asn)	TBCK (D132N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174796	NM_001163435.3(TBCK):c.717A>G (p.Ile239Met)	TBCK (I239M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174795	NM_001163435.3(TBCK):c.386A>G (p.His129Arg)	TBCK (H129R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3174794	NM_001163435.3(TBCK):c.262G>A (p.Val88Met)	TBCK (V88M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3174792	NM_001163435.3(TBCK):c.229A>C (p.Ser77Arg)	TBCK (S77R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3174791	NM_001163435.3(TBCK):c.2188G>A (p.Ala730Thr)	TBCK (A691T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3174789	NM_001163435.3(TBCK):c.1764T>G (p.His588Gln)	TBCK (H588Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062772	GRCh37/hg19 4q23-25(chr4:100172302-107880077)x1	ADH1A, ADH1B +34 more	Copy number loss	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3062757	GRCh37/hg19 4q23-24(chr4:99355670-107274288)x1	ADH1A, ADH1B +39 more	Copy number loss	not specified	GPathogenic
Select item 3054428	NM_001163435.3(TBCK):c.266+10A>G	TBCK	Single nucleotide variant (intron variant)	TBCK-related disorder	GLikely benign
Select item 3043986	NM_001163435.3(TBCK):c.194-6T>G	TBCK	Single nucleotide variant (intron variant)	TBCK-related disorder	GLikely benign
Select item 3034702	NM_001142416.2(AIMP1):c.-34C>T	AIMP1, LOC129992924 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	AIMP1-related disorder	GLikely benign
Select item 3029242	NM_001163435.3(TBCK):c.2060-9del	TBCK	Deletion (intron variant)	TBCK-related disorder	GLikely benign
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 3022591	NM_001163435.3(TBCK):c.632A>C (p.Glu211Ala)	TBCK (E211A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011788	NM_001163435.3(TBCK):c.1161G>A (p.Gln387=)	TBCK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008929	NM_001163435.3(TBCK):c.975G>A (p.Val325=)	TBCK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006347	NM_001163435.3(TBCK):c.659-4A>G	TBCK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006170	NM_001163435.3(TBCK):c.72T>C (p.Cys24=)	TBCK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3005801	NM_001163435.3(TBCK):c.207C>T (p.Val69=)	TBCK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3001272	NM_001163435.3(TBCK):c.1449+17del	TBCK	Deletion (intron variant)	not provided	GBenign
Select item 2994464	NM_001163435.3(TBCK):c.1221-9_1221-8del	TBCK	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2992357	NM_001163435.3(TBCK):c.2295A>G (p.Ala765=)	TBCK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991001	NM_001163435.3(TBCK):c.2283A>G (p.Pro761=)	TBCK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987262	NM_001163435.3(TBCK):c.1122G>C (p.Ser374=)	TBCK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985161	NM_001163435.3(TBCK):c.1512+10A>C	TBCK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983195	NM_001163435.3(TBCK):c.2127T>G (p.Thr709=)	TBCK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979903	NM_001163435.3(TBCK):c.381+19A>T	TBCK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977064	NM_001163435.3(TBCK):c.2577A>G (p.Ala859=)	TBCK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975727	NM_001163435.3(TBCK):c.1170+10A>G	TBCK	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2972880	NM_001163435.3(TBCK):c.1640-5G>T	TBCK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971121	NM_001163435.3(TBCK):c.219T>C (p.His73=)	TBCK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2969912	NM_001163435.3(TBCK):c.1536T>C (p.Cys512=)	TBCK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969815	NM_001163435.3(TBCK):c.1640-14C>A	TBCK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969779	NM_001163435.3(TBCK):c.597+13A>G	TBCK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967022	NM_001163435.3(TBCK):c.1545C>T (p.Tyr515=)	TBCK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966878	NM_001163435.3(TBCK):c.1171-4A>G	TBCK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965170	NM_001163435.3(TBCK):c.1171-6A>T	TBCK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964460	NM_001163435.3(TBCK):c.915C>T (p.Ile305=)	TBCK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963443	NM_001163435.3(TBCK):c.1898-14T>C	TBCK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962764	NM_001163435.3(TBCK):c.1775-8A>G	TBCK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961475	NM_001163435.3(TBCK):c.525T>C (p.Ser175=)	TBCK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2909689	NM_001163435.3(TBCK):c.1334del (p.Phe445fs)	TBCK (F406fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2881849	NM_001163435.3(TBCK):c.1197A>G (p.Ala399=)	TBCK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881559	NM_001163435.3(TBCK):c.1395T>G (p.Val465=)	TBCK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879464	NM_001163435.3(TBCK):c.672C>T (p.Asp224=)	TBCK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877486	NM_001163435.3(TBCK):c.1734G>A (p.Leu578=)	TBCK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875777	NM_001163435.3(TBCK):c.658+17T>C	TBCK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875352	NM_001163435.3(TBCK):c.382-5C>T	TBCK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874358	NM_001163435.3(TBCK):c.1351-5C>G	TBCK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872465	NM_001163435.3(TBCK):c.1220+19A>G	TBCK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870437	NM_001163435.3(TBCK):c.2306T>C (p.Ile769Thr)	TBCK (I706T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868938	NM_001163435.3(TBCK):c.456-20A>G	TBCK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2866281	NM_001163435.3(TBCK):c.253del (p.Arg85fs)	TBCK (R85fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2862954	NM_001163435.3(TBCK):c.2478G>A (p.Gly826=)	TBCK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2853313	NM_001163435.3(TBCK):c.2376A>G (p.Pro792=)	TBCK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2850331	NM_001163435.3(TBCK):c.312G>A (p.Leu104=)	TBCK	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2850011	NM_001163435.3(TBCK):c.1047A>G (p.Lys349=)	TBCK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2848368	NM_001163435.3(TBCK):c.2235+8T>C	TBCK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2848295	NM_001163435.3(TBCK):c.1818A>T (p.Pro606=)	TBCK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2840797	NM_001163435.3(TBCK):c.1449+18G>C	TBCK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2840032	NM_001163435.3(TBCK):c.1419T>A (p.Gly473=)	TBCK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2837224	NM_001163435.3(TBCK):c.194-20G>A	TBCK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2826225	NM_001163435.3(TBCK):c.194-20del	TBCK	Deletion (intron variant)	not provided	GLikely benign
Select item 2824098	NM_001163435.3(TBCK):c.2601T>C (p.Tyr867=)	TBCK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2818582	NM_001163435.3(TBCK):c.1164A>G (p.Leu388=)	TBCK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2815537	NM_001163435.3(TBCK):c.1351-8T>C	TBCK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2814888	NM_001163435.3(TBCK):c.2411+17C>T	TBCK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2812553	NM_001163435.3(TBCK):c.267-20A>T	TBCK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2812464	NM_001163435.3(TBCK):c.2676A>G (p.Gln892=)	TBCK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2809813	NM_001163435.3(TBCK):c.1640-14C>T	TBCK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2807698	NM_001163435.3(TBCK):c.193+13C>T	TBCK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2805606	NM_001163435.3(TBCK):c.382-10A>G	TBCK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2800667	NM_001163435.3(TBCK):c.1275G>C (p.Thr425=)	TBCK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2798799	NM_001163435.3(TBCK):c.1450-11_1450-10del	TBCK	Deletion (intron variant)	not provided	GLikely benign
Select item 2795737	NM_001163435.3(TBCK):c.1774+8A>G	TBCK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2795364	NM_001163435.3(TBCK):c.932-5A>G	TBCK	Single nucleotide variant (intron variant)	not provided	GLikely benign

<< First< Prev

Page of 9