16257[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066385, LOC130066386 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 146317	GRCh38/hg38 20q13.2-13.33(chr20:55630597-60941207)x3	LOC121627913, LOC121853014 +175 more	Copy number gain	See cases	GLikely pathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	LOC130066289, LOC130066290 +491 more	Copy number gain	See cases	GPathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066383, LOC130066384 +464 more	Copy number gain	See cases	GPathogenic
Select item 1684360	NM_030773.4(TUBB1):c.-88G>C	TUBB1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2810179	NM_030773.4(TUBB1):c.3G>A (p.Met1Ile)	TUBB1 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 988869	NM_030773.4(TUBB1):c.4C>T (p.Arg2Cys)	TUBB1 (R2C)	Single nucleotide variant (missense variant)	Abnormal bleeding +1 more	GUncertain significance
Select item 2572100	NM_030773.4(TUBB1):c.5G>C (p.Arg2Pro)	TUBB1 (R2P)	Single nucleotide variant (missense variant)	Macrothrombocytopenia, isolated, 1, autosomal dominant	GUncertain significance
Select item 988861	NM_030773.4(TUBB1):c.13G>A (p.Val5Ile)	TUBB1 (V5I)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2867684	NM_030773.4(TUBB1):c.17A>G (p.His6Arg)	TUBB1 (H6R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004504	NM_030773.4(TUBB1):c.19A>G (p.Ile7Val)	TUBB1 (I7V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 627053	NM_030773.4(TUBB1):c.28G>C (p.Gly10Arg)	TUBB1 (G10R)	Single nucleotide variant (missense variant)	Thrombocytopenia	GUncertain significance
Select item 2438434	NM_030773.4(TUBB1):c.32A>C (p.Gln11Pro)	TUBB1 (Q11P)	Single nucleotide variant (missense variant)	Macrothrombocytopenia, isolated, 1, autosomal dominant	GUncertain significance
Select item 2880579	NM_030773.4(TUBB1):c.34T>A (p.Cys12Ser)	TUBB1 (C12S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 586966	NM_030773.4(TUBB1):c.35del (p.Cys12fs)	TUBB1 (C12fs)	Deletion (frameshift variant)	Macrothrombocytopenia, isolated, 1, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 1684404	NM_030773.4(TUBB1):c.37G>A (p.Gly13Ser)	TUBB1 (G13S)	Single nucleotide variant (missense variant)	Macrothrombocytopenia, isolated, 1, autosomal dominant	GUncertain significance
Select item 2757374	NM_030773.4(TUBB1):c.42C>G (p.Asn14Lys)	TUBB1 (N14K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2629031	NM_030773.4(TUBB1):c.49G>A (p.Gly17Arg)	TUBB1 (G17R)	Single nucleotide variant (missense variant)	TUBB1-related disorder	GUncertain significance
Select item 1028901	NM_030773.4(TUBB1):c.57+1G>A	TUBB1	Single nucleotide variant (splice donor variant)	Macrothrombocytopenia, isolated, 1, autosomal dominant	GLikely pathogenic
Select item 2113504	NM_030773.4(TUBB1):c.57+9T>C	TUBB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873391	NM_030773.4(TUBB1):c.57+10G>A	TUBB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2107629	NM_030773.4(TUBB1):c.57+17T>A	TUBB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2107636	NM_030773.4(TUBB1):c.57+19C>G	TUBB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1227387	NM_030773.4(TUBB1):c.58-255A>G	TUBB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2038538	NM_030773.4(TUBB1):c.58-2A>G	TUBB1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 871094	NM_030773.4(TUBB1):c.68T>C (p.Met23Thr)	TUBB1 (M23T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3239614	NM_030773.4(TUBB1):c.79_80delinsTT (p.Glu27Leu)	TUBB1 (E27L)	Indel (missense variant)	not provided	GUncertain significance
Select item 720416	NM_030773.4(TUBB1):c.84C>T (p.His28=)	TUBB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2872296	NM_030773.4(TUBB1):c.86G>A (p.Gly29Glu)	TUBB1 (G29E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1973734	NM_030773.4(TUBB1):c.105C>T (p.Ser35=)	TUBB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2266511	NM_030773.4(TUBB1):c.106G>C (p.Asp36His)	TUBB1 (D36H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1972431	NM_030773.4(TUBB1):c.106G>A (p.Asp36Asn)	TUBB1 (D36N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3352241	NM_030773.4(TUBB1):c.109C>T (p.Arg37Cys)	TUBB1 (R37C)	Single nucleotide variant (missense variant)	TUBB1-related disorder	GLikely benign
Select item 2888052	NM_030773.4(TUBB1):c.110G>A (p.Arg37His)	TUBB1 (R37H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2062619	NM_030773.4(TUBB1):c.111C>T (p.Arg37=)	TUBB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2056642	NM_030773.4(TUBB1):c.112G>A (p.Gly38Arg)	TUBB1 (G38R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3370917	NM_030773.4(TUBB1):c.113G>A (p.Gly38Glu)	TUBB1 (G38E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2885440	NM_030773.4(TUBB1):c.119C>T (p.Ser40Leu)	TUBB1 (S40L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2138364	NM_030773.4(TUBB1):c.128_129delinsCC (p.Gln43Pro)	TUBB1 (Q43P)	Indel (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1233171	NM_030773.4(TUBB1):c.128A>C (p.Gln43Pro)	TUBB1 (Q43P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2753580	NM_030773.4(TUBB1):c.151T>C (p.Tyr51His)	TUBB1 (Y51H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2141356	NM_030773.4(TUBB1):c.152A>T (p.Tyr51Phe)	TUBB1 (Y51F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443288	NM_030773.4(TUBB1):c.155A>T (p.Asn52Ile)	TUBB1 (N52I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2905753	NM_030773.4(TUBB1):c.165C>A (p.Tyr55Ter)	TUBB1 (Y55*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2428260	NM_030773.4(TUBB1):c.165C>T (p.Tyr55=)	TUBB1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1976682	NM_030773.4(TUBB1):c.166G>A (p.Gly56Ser)	TUBB1 (G56S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1709749	NM_030773.4(TUBB1):c.166+1G>C	TUBB1	Single nucleotide variant (splice donor variant)	Macrothrombocytopenia, isolated, 1, autosomal dominant	GLikely pathogenic
Select item 2795020	NM_030773.4(TUBB1):c.166+2T>C	TUBB1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2906902	NM_030773.4(TUBB1):c.166+10G>T	TUBB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2081183	NM_030773.4(TUBB1):c.166+11C>T	TUBB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2581495	NM_030773.4(TUBB1):c.166+14G>C	TUBB1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2775686	NM_030773.4(TUBB1):c.166+16C>A	TUBB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1252913	NM_030773.4(TUBB1):c.167-213_167-212insAA	TUBB1	Insertion (intron variant)	not provided	GBenign
Select item 1676730	NM_030773.4(TUBB1):c.167-7T>C	TUBB1	Single nucleotide variant (intron variant)	Macrothrombocytopenia, isolated, 1, autosomal dominant	GUncertain significance
Select item 1703806	NM_030773.4(TUBB1):c.170G>A (p.Arg57Lys)	TUBB1 (R57K)	Single nucleotide variant (missense variant)	Macrothrombocytopenia, isolated, 1, autosomal dominant	GUncertain significance
Select item 2138365	NM_030773.4(TUBB1):c.184C>T (p.Arg62Ter)	TUBB1 (R62*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2038301	NM_030773.4(TUBB1):c.184C>A (p.Arg62=)	TUBB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2728996	NM_030773.4(TUBB1):c.185G>A (p.Arg62Gln)	TUBB1 (R62Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2066792	NM_030773.4(TUBB1):c.219G>A (p.Met73Ile)	TUBB1 (M73I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 627037	NM_030773.4(TUBB1):c.229C>T (p.Arg77Ter)	TUBB1 (R77*)	Single nucleotide variant (nonsense)	Macrothrombocytopenia, isolated, 1, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 2118868	NM_030773.4(TUBB1):c.230G>C (p.Arg77Pro)	TUBB1 (R77P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1338272	NM_030773.4(TUBB1):c.230G>A (p.Arg77Gln)	TUBB1 (R77Q)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2725667	NM_030773.4(TUBB1):c.261C>T (p.Pro87=)	TUBB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2726516	NM_030773.4(TUBB1):c.262G>A (p.Asp88Asn)	TUBB1 (D88N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2099669	NM_030773.4(TUBB1):c.273C>T (p.Val91=)	TUBB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870575	NM_030773.4(TUBB1):c.277+10del	TUBB1	Deletion (intron variant)	not provided	GBenign
Select item 2867400	NM_030773.4(TUBB1):c.277+20T>C	TUBB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2777221	NM_030773.4(TUBB1):c.278-8G>C	TUBB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879069	NM_030773.4(TUBB1):c.278-4A>G	TUBB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2652452	NM_030773.4(TUBB1):c.285_286del (p.Ala97fs)	TUBB1 (A97fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2792926	NM_030773.4(TUBB1):c.289G>A (p.Ala97Thr)	TUBB1 (A97T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 812737	NM_030773.4(TUBB1):c.297C>A (p.Asn99Lys)	TUBB1 (N99K)	Single nucleotide variant (missense variant)	Macrothrombocytopenia	GLikely pathogenic
Select item 627295	NM_030773.4(TUBB1):c.305C>T (p.Ala102Val)	TUBB1 (A102V)	Single nucleotide variant (missense variant)	Thrombocytopenia	GUncertain significance
Select item 586965	NM_030773.4(TUBB1):c.318C>G (p.Tyr106Ter)	TUBB1 (Y106*)	Single nucleotide variant (nonsense)	Congenital hypothyroidism	GPathogenic
Select item 1677274	NM_030773.4(TUBB1):c.319A>C (p.Thr107Pro)	TUBB1 (T107P)	Single nucleotide variant (missense variant)	Macrothrombocytopenia, isolated, 1, autosomal dominant +2 more	GUncertain significance
Select item 546390	NM_030773.4(TUBB1):c.320C>T (p.Thr107Met)	TUBB1 (T107M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970591	NM_030773.4(TUBB1):c.321G>A (p.Thr107=)	TUBB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879614	NM_030773.4(TUBB1):c.330_334del (p.Glu111fs)	TUBB1 (E111fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 626929	NM_030773.4(TUBB1):c.326G>A (p.Gly109Glu)	TUBB1 (G109E)	Single nucleotide variant (missense variant)	Thrombocytopenia +3 more	GConflicting classifications of pathogenicity
Select item 2149620	NM_030773.4(TUBB1):c.340G>A (p.Glu114Lys)	TUBB1 (E114K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2134585	NM_030773.4(TUBB1):c.355G>C (p.Val119Leu)	TUBB1 (V119L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2866308	NM_030773.4(TUBB1):c.364C>T (p.His122Tyr)	TUBB1 (H122Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 770469	NM_030773.4(TUBB1):c.366C>T (p.His122=)	TUBB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2795574	NM_030773.4(TUBB1):c.372T>G (p.Ser124Arg)	TUBB1 (S124R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2778133	NM_030773.4(TUBB1):c.386G>A (p.Cys129Tyr)	TUBB1 (C129Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676726	NM_030773.4(TUBB1):c.388C>G (p.Leu130Val)	TUBB1 (L130V)	Single nucleotide variant (missense variant)	Macrothrombocytopenia, isolated, 1, autosomal dominant +1 more	GConflicting classifications of pathogenicity
Select item 2024187	NM_030773.4(TUBB1):c.394G>C (p.Gly132Arg)	TUBB1 (G132R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 748762	NM_030773.4(TUBB1):c.396C>G (p.Gly132=)	TUBB1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1338448	NM_030773.4(TUBB1):c.400C>T (p.Gln134Ter)	TUBB1 (Q134*)	Single nucleotide variant (nonsense)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2869686	NM_030773.4(TUBB1):c.405C>T (p.Ile135=)	TUBB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788923	NM_030773.4(TUBB1):c.420C>T (p.Gly140=)	TUBB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2172018	NM_030773.4(TUBB1):c.420C>G (p.Gly140=)	TUBB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1684400	NM_030773.4(TUBB1):c.421G>A (p.Gly141Arg)	TUBB1 (G141R)	Single nucleotide variant (missense variant)	Macrothrombocytopenia, isolated, 1, autosomal dominant	GUncertain significance
Select item 627307	NM_030773.4(TUBB1):c.421G>C (p.Gly141Arg)	TUBB1 (G141R)	Single nucleotide variant (missense variant)	Macrothrombocytopenia	GUncertain significance
Select item 1684393	NM_030773.4(TUBB1):c.423G>A (p.Gly141=)	TUBB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2047306	NM_030773.4(TUBB1):c.435C>T (p.Ser145=)	TUBB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 627071	NM_030773.4(TUBB1):c.436G>A (p.Gly146Arg)	TUBB1 (G146R)	Single nucleotide variant (missense variant)	Macrothrombocytopenia, isolated, 1, autosomal dominant +3 more	GConflicting classifications of pathogenicity

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