57465[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 154001	GRCh38/hg38 16p13.3(chr16:2304443-2676863)x1	ABCA3, AMDHD2 +49 more	Copy number loss	See cases	GUncertain significance
Select item 154402	GRCh38/hg38 16p13.3(chr16:2365461-2764284)x1	AMDHD2, ATP6V0C +58 more	Copy number loss	See cases	GUncertain significance
Select item 150039	GRCh38/hg38 16p13.3(chr16:2365461-2532960)x1	AMDHD2, ATP6V0C +36 more	Copy number loss	See cases	GUncertain significance
Select item 152712	GRCh38/hg38 16p13.3(chr16:2406643-2782411)x1	AMDHD2, ATP6V0C +59 more	Copy number loss	See cases	GLikely pathogenic
Select item 516720	NM_001199107.2(TBC1D24):c.-137GAG[1]	LOC130058245, TBC1D24	Microsatellite (5 prime UTR variant)	not specified	GLikely benign
Select item 884387	NM_001199107.2(TBC1D24):c.-135G>A	LOC130058245, TBC1D24	Single nucleotide variant (5 prime UTR variant)	Familial infantile myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 508449	NM_001199107.2(TBC1D24):c.-134G>C	LOC130058245, TBC1D24	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 383682	NM_001199107.2(TBC1D24):c.-121G>A	LOC130058245, TBC1D24	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 508475	NM_001199107.2(TBC1D24):c.-119G>C	LOC130058245, TBC1D24	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 516721	NM_001199107.2(TBC1D24):c.-116+3G>T	LOC130058245, TBC1D24	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 387229	NM_001199107.2(TBC1D24):c.-116+13G>C	LOC130058245, TBC1D24	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 668520	NM_001199107.2(TBC1D24):c.-116+18G>T	LOC130058245, TBC1D24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183617	NM_001199107.2(TBC1D24):c.-116+73C>T	TBC1D24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1696584	NM_001199107.2(TBC1D24):c.-116+125A>C	TBC1D24	Single nucleotide variant (intron variant)	Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome +3 more	GUncertain significance
Select item 59427	GRCh38/hg38 16p13.3(chr16:2494804-3246579)x1	LOC130058276, LOC130058277 +148 more	Copy number loss	See cases	GPathogenic
Select item 677586	NM_001199107.2(TBC1D24):c.-115-244T>A	TBC1D24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207448	NM_001199107.2(TBC1D24):c.-115-140C>A	TBC1D24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675998	NM_001199107.2(TBC1D24):c.-115-101G>A	TBC1D24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204212	NM_001199107.2(TBC1D24):c.-115-60C>T	TBC1D24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 514549	NM_001199107.2(TBC1D24):c.-115-17T>C	TBC1D24	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 884388	NM_001199107.2(TBC1D24):c.-115G>T	TBC1D24	Single nucleotide variant (5 prime UTR variant)	Familial infantile myoclonic epilepsy	GUncertain significance
Select item 318607	NM_001199107.2(TBC1D24):c.-99C>G	TBC1D24	Single nucleotide variant (5 prime UTR variant)	Familial infantile myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 884389	NM_001199107.2(TBC1D24):c.-88G>C	TBC1D24	Single nucleotide variant (5 prime UTR variant)	Familial infantile myoclonic epilepsy	GUncertain significance
Select item 318608	NM_001199107.2(TBC1D24):c.-53C>T	TBC1D24	Single nucleotide variant (5 prime UTR variant)	Familial infantile myoclonic epilepsy	GUncertain significance
Select item 886414	NM_001199107.2(TBC1D24):c.-46C>T	TBC1D24	Single nucleotide variant (5 prime UTR variant)	Familial infantile myoclonic epilepsy	GUncertain significance
Select item 668367	NM_001199107.2(TBC1D24):c.-35del	TBC1D24	Deletion (5 prime UTR variant)	not provided	GLikely benign
Select item 318609	NM_001199107.2(TBC1D24):c.-36G>A	TBC1D24	Single nucleotide variant (5 prime UTR variant)	Familial infantile myoclonic epilepsy	GUncertain significance
Select item 139391	NM_001199107.2(TBC1D24):c.-31T>C	TBC1D24	Single nucleotide variant (5 prime UTR variant)	Familial infantile myoclonic epilepsy +2 more	GBenign
Select item 516722	NM_001199107.2(TBC1D24):c.-30C>T	TBC1D24	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 655213	NC_000016.9:g.(?_2546130)_(2550979_?)dup	TBC1D24	Duplication	Developmental and epileptic encephalopathy, 1 +2 more	GUncertain significance
Select item 474299	NC_000016.10:g.(?_2496129)_(2500978_?)del	TBC1D24	Deletion	Developmental and epileptic encephalopathy, 1 +2 more	GPathogenic
Select item 207483	NM_001199107.2(TBC1D24):c.-18C>T	TBC1D24	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 508425	NM_001199107.2(TBC1D24):c.-15G>C	TBC1D24	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 381017	NM_001199107.2(TBC1D24):c.-15G>A	TBC1D24	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 139392	NM_001199107.2(TBC1D24):c.-7C>T	TBC1D24	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 195133	NM_001199107.2(TBC1D24):c.-4C>T	TBC1D24	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GUncertain significance
Select item 318610	NM_001199107.2(TBC1D24):c.-3G>A	TBC1D24	Single nucleotide variant (5 prime UTR variant)	Familial infantile myoclonic epilepsy	GUncertain significance
Select item 1062856	NM_001199107.2(TBC1D24):c.1A>G (p.Met1Val)	TBC1D24 (M1V)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 3252044	NM_001199107.2(TBC1D24):c.2T>C (p.Met1Thr)	TBC1D24 (M1T)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 16	GLikely pathogenic
Select item 290246	NM_001199107.2(TBC1D24):c.13G>C (p.Gly5Arg)	TBC1D24 (G5R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +3 more	GUncertain significance
Select item 2948527	NM_001199107.2(TBC1D24):c.16T>C (p.Tyr6His)	TBC1D24 (Y6H)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 207493	NM_001199107.2(TBC1D24):c.20A>G (p.Asn7Ser)	TBC1D24 (N7S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 195134	NM_001199107.2(TBC1D24):c.22T>C (p.Cys8Arg)	TBC1D24 (C8R)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign
Select item 2079833	NM_001199107.2(TBC1D24):c.24C>G (p.Cys8Trp)	TBC1D24 (C8W)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 386266	NM_001199107.2(TBC1D24):c.27C>T (p.Phe9=)	TBC1D24	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 646598	NM_001199107.2(TBC1D24):c.28G>A (p.Val10Met)	TBC1D24 (V10M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 16 +4 more	GUncertain significance
Select item 3062222	NM_001199107.2(TBC1D24):c.32A>G (p.Asp11Gly)	TBC1D24 (D11G)	Single nucleotide variant (missense variant)	Familial infantile myoclonic epilepsy	GUncertain significance
Select item 1046925	NM_001199107.2(TBC1D24):c.36A>G (p.Lys12=)	TBC1D24	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 2571810	NM_001199107.2(TBC1D24):c.37G>A (p.Asp13Asn)	TBC1D24 (D13N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2073490	NM_001199107.2(TBC1D24):c.39C>T (p.Asp13=)	TBC1D24	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +2 more	GLikely benign
Select item 2067492	NM_001199107.2(TBC1D24):c.45G>C (p.Met15Ile)	TBC1D24 (M15I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +2 more	GUncertain significance
Select item 510920	NM_001199107.2(TBC1D24):c.48C>T (p.Asp16=)	TBC1D24	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +3 more	GLikely benign
Select item 1006265	NM_001199107.2(TBC1D24):c.49G>A (p.Ala17Thr)	TBC1D24 (A17T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1369893	NM_001199107.2(TBC1D24):c.56del (p.Ile19fs)	TBC1D24 (I19fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 1 +2 more	GPathogenic
Select item 2931965	NM_001199107.2(TBC1D24):c.57C>A (p.Ile19=)	TBC1D24	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GLikely benign
Select item 419782	NM_001199107.2(TBC1D24):c.58C>T (p.Gln20Ter)	TBC1D24 (Q20*)	Single nucleotide variant (nonsense)	Caused by mutation in the TBC1 domain family, member 24 +3 more	GPathogenic
Select item 91397	NM_001199107.2(TBC1D24):c.58C>G (p.Gln20Glu)	TBC1D24 (Q20E)	Single nucleotide variant (missense variant)	DOORS syndrome	GPathogenic
Select item 1133113	NM_001199107.2(TBC1D24):c.64C>T (p.Leu22=)	TBC1D24	Single nucleotide variant (synonymous variant)	Caused by mutation in the TBC1 domain family, member 24 +2 more	GLikely benign
Select item 1386611	NM_001199107.2(TBC1D24):c.67G>C (p.Gly23Arg)	TBC1D24 (G23R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 581471	NM_001199107.2(TBC1D24):c.68G>A (p.Gly23Glu)	TBC1D24 (G23E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +2 more	GUncertain significance
Select item 2055316	NM_001199107.2(TBC1D24):c.69G>A (p.Gly23=)	TBC1D24	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +2 more	GLikely benign
Select item 1045539	NM_001199107.2(TBC1D24):c.76G>A (p.Glu26Lys)	TBC1D24 (E26K)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 1026209	NM_001199107.2(TBC1D24):c.76_77delinsTT (p.Glu26Leu)	TBC1D24 (E26L)	Indel (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 2481739	NM_001199107.2(TBC1D24):c.77A>C (p.Glu26Ala)	TBC1D24 (E26A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1035801	NM_001199107.2(TBC1D24):c.86G>T (p.Cys29Phe)	TBC1D24 (C29F)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 1665888	NM_001199107.2(TBC1D24):c.87C>T (p.Cys29=)	TBC1D24	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +2 more	GLikely benign
Select item 1043816	NM_001199107.2(TBC1D24):c.88A>G (p.Thr30Ala)	TBC1D24 (T30A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +2 more	GUncertain significance
Select item 227985	NM_001199107.2(TBC1D24):c.90T>C (p.Thr30=)	TBC1D24	Single nucleotide variant (synonymous variant)	Familial infantile myoclonic epilepsy +5 more	GConflicting classifications of pathogenicity
Select item 1117027	NM_001199107.2(TBC1D24):c.94C>T (p.Leu32=)	TBC1D24	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +2 more	GLikely benign
Select item 1307763	NM_001199107.2(TBC1D24):c.95T>G (p.Leu32Arg)	TBC1D24 (L32R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +3 more	GUncertain significance
Select item 541321	NM_001199107.2(TBC1D24):c.102A>G (p.Glu34=)	TBC1D24	Single nucleotide variant (synonymous variant)	Caused by mutation in the TBC1 domain family, member 24 +2 more	GLikely benign
Select item 1066340	NM_001199107.2(TBC1D24):c.115G>C (p.Ala39Pro)	TBC1D24 (A39P)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GPathogenic
Select item 474302	NM_001199107.2(TBC1D24):c.116C>T (p.Ala39Val)	TBC1D24 (A39V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 86 +4 more	GPathogenic
Select item 449916	NM_001199107.2(TBC1D24):c.116C>A (p.Ala39Glu)	TBC1D24 (A39E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +4 more	GConflicting classifications of pathogenicity
Select item 1133711	NM_001199107.2(TBC1D24):c.117G>A (p.Ala39=)	TBC1D24	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +3 more	GLikely benign
Select item 91396	NM_001199107.2(TBC1D24):c.118C>T (p.Arg40Cys)	TBC1D24 (R40C)	Single nucleotide variant (missense variant)	DOORS syndrome +4 more	GPathogenic
Select item 2932540	NM_001199107.2(TBC1D24):c.119G>C (p.Arg40Pro)	TBC1D24 (R40P)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 856852	NM_001199107.2(TBC1D24):c.119G>A (p.Arg40His)	TBC1D24 (R40H)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +4 more	GPathogenic/Likely pathogenic
Select item 183152	NM_001199107.2(TBC1D24):c.119G>T (p.Arg40Leu)	TBC1D24 (R40L)	Single nucleotide variant (missense variant)	DOORS syndrome +3 more	GPathogenic/Likely pathogenic
Select item 391687	NM_001199107.2(TBC1D24):c.121C>T (p.Gln41Ter)	TBC1D24 (Q41*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 3343698	NM_001199107.2(TBC1D24):c.130T>G (p.Trp44Gly)	TBC1D24 (W44G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 666926	NM_001199107.2(TBC1D24):c.130T>C (p.Trp44Arg)	TBC1D24 (W44R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 593459	NM_001199107.2(TBC1D24):c.131G>A (p.Trp44Ter)	TBC1D24 (W44*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 2163597	NM_001199107.2(TBC1D24):c.132G>A (p.Trp44Ter)	TBC1D24 (W44*)	Single nucleotide variant (nonsense)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GPathogenic
Select item 649293	NM_001199107.2(TBC1D24):c.143A>T (p.His48Leu)	TBC1D24 (H48L)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 1085413	NM_001199107.2(TBC1D24):c.144C>T (p.His48=)	TBC1D24	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +2 more	GLikely benign
Select item 858106	NM_001199107.2(TBC1D24):c.144C>G (p.His48Gln)	TBC1D24 (H48Q)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 318611	NM_001199107.2(TBC1D24):c.145G>A (p.Ala49Thr)	TBC1D24 (A49T)	Single nucleotide variant (missense variant)	Familial infantile myoclonic epilepsy +3 more	GUncertain significance
Select item 318612	NM_001199107.2(TBC1D24):c.151C>T (p.Arg51Trp)	TBC1D24 (R51W)	Single nucleotide variant (missense variant)	Familial infantile myoclonic epilepsy +4 more	GUncertain significance
Select item 1005891	NM_001199107.2(TBC1D24):c.152G>A (p.Arg51Gln)	TBC1D24 (R51Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +2 more	GUncertain significance
Select item 639966	NM_001199107.2(TBC1D24):c.154G>A (p.Gly52Arg)	TBC1D24 (G52R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1415723	NM_001199107.2(TBC1D24):c.155G>A (p.Gly52Glu)	TBC1D24 (G52E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +2 more	GUncertain significance
Select item 1718171	NM_001199107.2(TBC1D24):c.160G>T (p.Val54Leu)	TBC1D24 (V54L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +2 more	GUncertain significance

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