24530[HGNC] - 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 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 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 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 147349	GRCh38/hg38 16p13.2(chr16:8241222-9770190)x3	LOC112486224, LOC112486225 +58 more	Copy number gain	See cases	GUncertain significance
Select item 59952	GRCh38/hg38 16p13.2(chr16:8544481-8903449)x3	ABAT, CARHSP1 +23 more	Copy number gain	See cases	GUncertain significance
Select item 151192	GRCh38/hg38 16p13.2(chr16:8579327-9143148)x3	ABAT, CARHSP1 +49 more	Copy number gain	See cases	GUncertain significance
Select item 150852	GRCh38/hg38 16p13.2(chr16:8708620-9180671)x1	ABAT, CARHSP1 +46 more	Copy number loss	See cases	GUncertain significance
Select item 59953	GRCh38/hg38 16p13.2(chr16:8752152-9094202)x3	ABAT, CARHSP1 +42 more	Copy number gain	See cases	GUncertain significance
Select item 58248	GRCh38/hg38 16p13.2(chr16:8752152-8979353)x1	ABAT, CARHSP1 +29 more	Copy number loss	See cases	GUncertain significance
Select item 660704	NC_000016.9:g.(?_8851594)_(8941702_?)dup	LOC130058393, PMM2 +5 more	Duplication	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 151587	GRCh38/hg38 16p13.2(chr16:8767999-8939742)x3	ABAT, CARHSP1 +21 more	Copy number gain	See cases	GLikely benign
Select item 57446	GRCh38/hg38 16p13.2(chr16:8767999-8939801)x1	ABAT, CARHSP1 +21 more	Copy number loss	See cases	GUncertain significance
Select item 661750	NC_000016.10:g.(?_8779459)_(8847845_?)del	ABAT, LOC130058390 +5 more	Deletion	PMM2-congenital disorder of glycosylation	GPathogenic
Select item 2383538	NM_015421.4(TMEM186):c.633G>A (p.Met211Ile)	TMEM186 (M211I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322414	NM_015421.4(TMEM186):c.626A>G (p.His209Arg)	TMEM186 (H209R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340894	NM_015421.4(TMEM186):c.583C>T (p.Arg195Cys)	TMEM186 (R195C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179056	NM_015421.4(TMEM186):c.539G>A (p.Arg180Gln)	TMEM186 (R180Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3326893	NM_015421.4(TMEM186):c.530G>A (p.Arg177His)	TMEM186 (R177H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179055	NM_015421.4(TMEM186):c.527T>C (p.Val176Ala)	TMEM186 (V176A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407868	NM_015421.4(TMEM186):c.500C>G (p.Thr167Ser)	TMEM186 (T167S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2341151	NM_015421.4(TMEM186):c.498A>C (p.Glu166Asp)	TMEM186 (E166D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570542	NM_015421.4(TMEM186):c.452G>A (p.Arg151Gln)	TMEM186 (R151Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306524	NM_015421.4(TMEM186):c.444G>C (p.Trp148Cys)	TMEM186 (W148C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406192	NM_015421.4(TMEM186):c.427G>T (p.Ala143Ser)	TMEM186 (A143S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302190	NM_015421.4(TMEM186):c.425T>G (p.Val142Gly)	TMEM186 (V142G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493679	NM_015421.4(TMEM186):c.424G>C (p.Val142Leu)	TMEM186 (V142L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350825	NM_015421.4(TMEM186):c.421C>T (p.Arg141Trp)	TMEM186 (R141W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391732	NM_015421.4(TMEM186):c.398T>G (p.Leu133Arg)	TMEM186 (L133R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525348	NM_015421.4(TMEM186):c.338C>A (p.Ala113Asp)	TMEM186 (A113D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466258	NM_015421.4(TMEM186):c.329C>T (p.Ser110Leu)	TMEM186 (S110L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253252	NM_015421.4(TMEM186):c.321T>A (p.Ser107Arg)	TMEM186 (S107R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345287	NM_015421.4(TMEM186):c.307G>A (p.Val103Met)	TMEM186 (V103M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179053	NM_015421.4(TMEM186):c.278A>G (p.Tyr93Cys)	TMEM186 (Y93C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543063	NM_015421.4(TMEM186):c.233A>G (p.Gln78Arg)	TMEM186 (Q78R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3069103	NM_015421.4(TMEM186):c.204C>T (p.Phe68=)	TMEM186	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2278965	NM_015421.4(TMEM186):c.195C>G (p.Ile65Met)	TMEM186 (I65M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179052	NM_015421.4(TMEM186):c.171G>C (p.Trp57Cys)	TMEM186 (W57C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179054	NM_015421.4(TMEM186):c.29G>C (p.Arg10Thr)	TMEM186 (R10T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588820	NM_015421.4(TMEM186):c.8C>T (p.Ala3Val)	TMEM186 (A3V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1336869	NM_000303.2(PMM2):c.-456T>C	PMM2, TMEM186	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1337239	NM_000303.2(PMM2):c.-401T>C	PMM2, TMEM186	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1336657	NM_000303.2(PMM2):c.-338C>T	PMM2, TMEM186	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1258116	NC_000016.10:g.8797584C>A	PMM2, TMEM186	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212443	NM_000303.2(PMM2):c.-298C>T	PMM2, TMEM186	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1326750	NM_000303.2(PMM2):c.-291C>A	PMM2, TMEM186	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 702357	NM_015421.4(TMEM186):c.1A>G (p.Met1Val)	TMEM186, PMM2 (M1V)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 3243409	NC_000016.9:g.(?_8829597)_(9923529_?)del	ABAT, CARHSP1 +5 more	Deletion	Landau-Kleffner syndrome	GPathogenic
Select item 3243343	NC_000016.9:g.(?_8851594)_(8941682_?)dup	ABAT, PMM2 +1 more	Duplication	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 3243341	NC_000016.9:g.(?_8829597)_(8941682_?)del	ABAT, PMM2 +1 more	Deletion	Gamma-aminobutyric acid transaminase deficiency	GPathogenic
Select item 3063402	GRCh37/hg19 16p13.2(chr16:8772448-8949474)x1	ABAT, CARHSP1 +2 more	Copy number loss	not specified	GPathogenic
Select item 2684781	GRCh37/hg19 16p13.2(chr16:8396405-9479483)x3	ABAT, CARHSP1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2500242	NC_000016.9:g.(?_8160554)_(9074348_?)del	ABAT, CARHSP1 +5 more	Deletion	Hao-Fountain syndrome	GPathogenic
Select item 2426577	NC_000016.9:g.(?_8841945)_(8941682_?)dup	ABAT, PMM2 +1 more	Duplication	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 2426572	NC_000016.9:g.(?_8851594)_(9017290_?)del	ABAT, CARHSP1 +3 more	Deletion	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 2424680	NC_000016.9:g.(?_8873316)_(8998442_?)dup	ABAT, CARHSP1 +3 more	Duplication	not provided	GUncertain significance
Select item 2423419	NC_000016.9:g.(?_8829597)_(11683693_?)dup	ABAT, ATF7IP2 +20 more	Duplication	Landau-Kleffner syndrome	GUncertain significance
Select item 2422846	NC_000016.9:g.(?_8839838)_(8900284_?)dup	ABAT, PMM2 +1 more	Duplication	PMM2-congenital disorder of glycosylation	GUncertain significance
Select item 2422843	NC_000016.9:g.(?_8839838)_(8905055_?)dup	ABAT, PMM2 +1 more	Duplication	PMM2-congenital disorder of glycosylation	GUncertain significance
Select item 1808960	GRCh37/hg19 16p13.2(chr16:8728709-8959355)x3	ABAT, CARHSP1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1807591	GRCh37/hg19 16p13.2(chr16:8813120-8904341)x1	ABAT, PMM2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1703617	GRCh37/hg19 16p13.3-13.2(chr16:5381584-10067952)	ABAT, CARHSP1 +8 more	Copy number gain	Chromosome 16p13.3 duplication syndrome	GLikely pathogenic
Select item 1526494	GRCh37/hg19 16p13.2(chr16:8862211-9287762)	TMEM186, USP7 +4 more	Copy number gain	not specified	GUncertain significance
Select item 1526493	GRCh37/hg19 16p13.2(chr16:8850768-9216009)	ABAT, CARHSP1 +4 more	Copy number gain	not specified	GUncertain significance
Select item 1526492	GRCh37/hg19 16p13.2(chr16:8727589-9041590)	PMM2, TMEM186 +4 more	Copy number gain	not specified	GUncertain significance
Select item 1480512	NC_000016.9:g.(?_8829597)_(11650586_?)dup	ABAT, ATF7IP2 +20 more	Duplication	MHC class II deficiency +1 more	GUncertain significance
Select item 1412230	NC_000016.9:g.(?_8866617)_(8900284_?)dup	ABAT, PMM2 +1 more	Duplication	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 1321999	GRCh37/hg19 16p13.2(chr16:8852764-9388125)x3	ABAT, C16orf72 +4 more	Copy number gain	See cases	GUncertain significance
Select item 1177500	GRCh37/hg19 16p13.2(chr16:8807079-9045027)x3	ABAT, CARHSP1 +3 more	Copy number gain	not provided	Gnot provided
Select item 1177496	GRCh37/hg19 16p13.2(chr16:8851612-8943194)x3	ABAT, PMM2 +1 more	Copy number gain	Gamma-aminobutyric acid transaminase deficiency +1 more	Gnot provided
Select item 1041094	NC_000016.9:g.(?_8829597)_(8941682_?)dup	TMEM186, ABAT +1 more	Duplication	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 1019421	NC_000016.9:g.(?_8839838)_(8941682_?)dup	PMM2, TMEM186 +1 more	Duplication	PMM2-congenital disorder of glycosylation	GUncertain significance
Select item 1003189	NC_000016.9:g.(?_8829577)_(10274288_?)dup	ABAT, CARHSP1 +5 more	Duplication	Landau-Kleffner syndrome	GUncertain significance
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 983161	GRCh37/hg19 16p13.2(chr16:8281005-9010923)x3	ABAT, METTL22 +5 more	Copy number gain	See cases	GUncertain significance
Select item 980568	GRCh37/hg19 16p13.2(chr16:8210270-9471096)x3	TMEM114, PMM2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 833220	NC_000016.10:g.(?_8781289)_(8847845_?)dup	ABAT, PMM2 +1 more	Duplication	PMM2-congenital disorder of glycosylation	GUncertain significance
Select item 832130	NC_000016.10:g.(?_8772760)_(8847845_?)dup	ABAT, PMM2 +1 more	Duplication	PMM2-congenital disorder of glycosylation	GUncertain significance
Select item 831672	NC_000016.10:g.(?_8750402)_(8801930_?)dup	PMM2, TMEM186 +1 more	Duplication	PMM2-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 831654	NC_000016.10:g.(?_8768173)_(8832245_?)dup	ABAT, PMM2 +1 more	Duplication	PMM2-congenital disorder of glycosylation	GUncertain significance
Select item 831382	NC_000016.10:g.(?_8735720)_(10180431_?)dup	ABAT, CARHSP1 +5 more	Duplication	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 830967	NC_000016.10:g.(?_8764049)_(8811733_?)dup	ABAT, PMM2 +1 more	Duplication	PMM2-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 815787	GRCh37/hg19 16p13.2(chr16:8795855-9015505)x3	TMEM186, CARHSP1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 815786	GRCh37/hg19 16p13.2(chr16:8776408-8950829)x1	PMM2, CARHSP1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 815785	GRCh37/hg19 16p13.2(chr16:8759826-8992656)x3	PMM2, ABAT +3 more	Copy number gain	not provided	GUncertain significance
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 689281	GRCh37/hg19 16p13.2(chr16:8800618-9302688)x3	ABAT, CARHSP1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 688791	GRCh37/hg19 16p13.2(chr16:8848302-8891483)x3	ABAT, TMEM186	Copy number gain	not provided	GUncertain significance
Select item 688057	GRCh37/hg19 16p13.2(chr16:8837843-9157022)x3	ABAT, CARHSP1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 686851	GRCh37/hg19 16p13.2(chr16:8821978-8959376)x3	ABAT, CARHSP1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 686771	GRCh37/hg19 16p13.2(chr16:8690029-9479483)x4	ABAT, CARHSP1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 686434	GRCh37/hg19 16p13.2(chr16:8763909-9274576)x3	ABAT, CARHSP1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 686338	GRCh37/hg19 16p13.2(chr16:8797797-8992828)x3	ABAT, CARHSP1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 685683	GRCh37/hg19 16p13.2(chr16:8797797-8913114)x3	ABAT, PMM2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 685374	GRCh37/hg19 16p13.2(chr16:8797797-8907325)x3	ABAT, PMM2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 685241	GRCh37/hg19 16p13.2(chr16:8884484-8992578)x3	CARHSP1, PMM2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 685179	GRCh37/hg19 16p13.2(chr16:8815381-8933009)x3	ABAT, PMM2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 625567	GRCh37/hg19 16p13.2(chr16:8839796-9728670)	ABAT, C16orf72 +4 more	Copy number loss	not provided	GPathogenic

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