485[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59736	GRCh38/hg38 8p23.3-23.1(chr8:96310-12021806)x3	AGPAT5, ANGPT2 +380 more	Copy number gain	See cases	GPathogenic
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
Select item 155691	GRCh38/hg38 8p23.3-23.1(chr8:208048-7186524)x4	AGPAT5, ANGPT2 +126 more	Copy number gain	See cases	GPathogenic
Select item 155440	GRCh38/hg38 8p23.3-23.1(chr8:208048-7087252)x1	AGPAT5, ANGPT2 +126 more	Copy number loss	See cases	GPathogenic
Select item 155311	GRCh38/hg38 8p23.3-23.1(chr8:208048-7141698)x3	AGPAT5, ANGPT2 +126 more	Copy number gain	See cases	GUncertain significance
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 151750	GRCh38/hg38 8p23.3-23.1(chr8:208048-7124466)x1	AGPAT5, ANGPT2 +126 more	Copy number loss	See cases	GPathogenic
Select item 151132	GRCh38/hg38 8p23.3-23.1(chr8:208048-7141592)x1	AGPAT5, ANGPT2 +126 more	Copy number loss	See cases	GPathogenic
Select item 60330	GRCh38/hg38 8p23.3-23.1(chr8:219853-7084815)x1	AGPAT5, ANGPT2 +126 more	Copy number loss	See cases	GPathogenic
Select item 59737	GRCh38/hg38 8p23.3-23.1(chr8:219853-10165486)x3	AGPAT5, ANGPT2 +255 more	Copy number gain	See cases	GPathogenic
Select item 155181	GRCh38/hg38 8p23.3-23.1(chr8:226452-12698554)x3	LOC129999827, LOC129999828 +393 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 152917	GRCh38/hg38 8p23.3-22(chr8:226452-16280146)x3	LOC101929290, LOC102723313 +448 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 150616	GRCh38/hg38 8p23.3-23.1(chr8:226452-7084815)x1	AGPAT5, ANGPT2 +126 more	Copy number loss	See cases	GPathogenic
Select item 150497	GRCh38/hg38 8p23.3-23.1(chr8:226452-7062751)x1	LOC126860267, LOC126860268 +126 more	Copy number loss	See cases	GPathogenic
Select item 149174	GRCh38/hg38 8p23.3-23.1(chr8:226452-7981437)x3	AGPAT5, ANGPT2 +172 more	Copy number gain	See cases	GPathogenic
Select item 148922	GRCh38/hg38 8p23.3-23.1(chr8:226452-12712987)x3	LOC123987611, LOC123987612 +393 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC130000032, LOC130000033 +1105 more	Copy number gain	See cases	GPathogenic
Select item 161038	GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x1	AGPAT5, ANGPT2 +166 more	Copy number loss	See cases	GPathogenic
Select item 161036	GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x3	AGPAT5, ANGPT2 +166 more	Copy number gain	See cases	GPathogenic
Select item 160883	GRCh38/hg38 8p23.3-23.1(chr8:241530-7022841)x1	AGPAT5, ANGPT2 +123 more	Copy number loss	See cases	GPathogenic
Select item 154529	GRCh38/hg38 8p23.3-23.1(chr8:241530-10458484)x1	AGPAT5, ANGPT2 +256 more	Copy number loss	See cases	GPathogenic
Select item 147663	GRCh38/hg38 8p23.3-23.1(chr8:241530-7056554)x1	AGPAT5, ANGPT2 +124 more	Copy number loss	See cases	GPathogenic
Select item 146718	GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3	LOC129999940, LOC129999941 +687 more	Copy number gain	See cases	GPathogenic
Select item 146221	GRCh38/hg38 8p23.3-23.1(chr8:241530-10867132)x1	AGPAT5, ANGPT2 +273 more	Copy number loss	See cases	GPathogenic
Select item 146114	GRCh38/hg38 8p23.3-23.1(chr8:241530-7022841)x3	DEFA6, DEFB1 +123 more	Copy number gain	See cases	GPathogenic
Select item 145525	GRCh38/hg38 8p23.3-23.1(chr8:241530-10191595)x1	LOC129999826, LOC129999827 +253 more	Copy number loss	See cases	GPathogenic
Select item 60341	GRCh38/hg38 8p23.3-23.1(chr8:241530-7195723)x1	AGPAT5, ANGPT2 +124 more	Copy number loss	See cases	GPathogenic
Select item 59739	GRCh38/hg38 8p23.3-22(chr8:241530-17678697)x3	LOC101929290, LOC102723313 +471 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 34125	GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x1	AGPAT5, ANGPT2 +166 more	Copy number loss	See cases	GPathogenic
Select item 32742	GRCh38/hg38 8p23.3-23.1(chr8:241530-7022841)x1	AGPAT5, ANGPT2 +123 more	Copy number loss	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC129999950, LOC129999951 +996 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 146786	GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3	LOC129999950, LOC129999951 +736 more	Copy number gain	See cases	GPathogenic
Select item 146751	GRCh38/hg38 8p23.3-23.1(chr8:241605-7022824)x1	AGPAT5, ANGPT2 +123 more	Copy number loss	See cases	GPathogenic
Select item 146750	GRCh38/hg38 8p23.3-23.1(chr8:241605-7022824)x3	LOC132089596, LOC132089598 +123 more	Copy number gain	See cases	GPathogenic
Select item 145967	GRCh38/hg38 8p23.3-23.1(chr8:410369-7477103)x1	AGPAT5, ANGPT2 +135 more	Copy number loss	See cases	GPathogenic
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	LOC126860300, LOC126860301 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 148126	GRCh38/hg38 8p23.3-23.1(chr8:782690-8222398)x3	AGPAT5, ANGPT2 +161 more	Copy number gain	See cases	GBenign
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	ADAM28, ADAM7 +773 more	Copy number loss	See cases	GPathogenic
Select item 32400	GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1	XKR5, XKR6 +773 more	Copy number loss	See cases	GPathogenic
Select item 152254	GRCh38/hg38 8p23.2-23.1(chr8:2605460-7026475)x3	AGPAT5, ANGPT2 +67 more	Copy number gain	See cases	GUncertain significance
Select item 150724	GRCh38/hg38 8p23.2-23.1(chr8:2605460-6605579)x3	ANGPT2, CSMD1 +32 more	Copy number gain	See cases	GPathogenic
Select item 150028	GRCh38/hg38 8p23.2-23.1(chr8:3934205-11526939)x1	AGPAT5, ANGPT2 +259 more	Copy number loss	See cases	GPathogenic
Select item 57380	GRCh38/hg38 8p23.2-23.1(chr8:4975829-7022841)x3	AGPAT5, ANGPT2 +54 more	Copy number gain	See cases	GUncertain significance
Select item 153394	GRCh38/hg38 8p23.1(chr8:6356671-6733232)x1	AGPAT5, ANGPT2 +24 more	Copy number loss	See cases	GUncertain significance
Select item 1141560	NC_000008.11:g.(?_6499632)_(6563245_?)del	ANGPT2, LOC123987613 +2 more	Deletion	Lymphatic malformation 10	GPathogenic
Select item 1183190	NM_024596.5(MCPH1):c.2137-208G>A	ANGPT2, MCPH1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1251032	NM_024596.5(MCPH1):c.2137-182T>C	ANGPT2, MCPH1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1187061	NM_024596.5(MCPH1):c.2137-166A>G	ANGPT2, MCPH1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1262416	NM_024596.5(MCPH1):c.2137-138A>T	ANGPT2, MCPH1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1199699	NM_024596.5(MCPH1):c.2137-102C>T	ANGPT2, MCPH1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1175465	NM_024596.5(MCPH1):c.2137-66T>C	ANGPT2, MCPH1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2777251	NM_024596.5(MCPH1):c.2137-19C>T	ANGPT2, MCPH1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2743017	NM_024596.5(MCPH1):c.2137-19C>G	ANGPT2, MCPH1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2972971	NM_024596.5(MCPH1):c.2137-16G>A	ANGPT2, MCPH1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2959443	NM_024596.5(MCPH1):c.2137-13G>T	ANGPT2, MCPH1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1531936	NM_024596.5(MCPH1):c.2137-13G>C	ANGPT2, MCPH1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2753854	NM_024596.5(MCPH1):c.2137-11G>A	ANGPT2, MCPH1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1581965	NM_024596.5(MCPH1):c.2137-9C>T	ANGPT2, MCPH1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 908100	NM_024596.5(MCPH1):c.2137-7C>T	ANGPT2, MCPH1	Single nucleotide variant (3 prime UTR variant +1 more)	Microcephaly 1, primary, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 870707	NM_024596.5(MCPH1):c.2137G>T (p.Val713Leu)	ANGPT2, MCPH1 (V713L)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2987487	NM_024596.5(MCPH1):c.2142A>G (p.Leu714=)	ANGPT2, MCPH1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 285523	NM_024596.5(MCPH1):c.2145G>A (p.Trp715Ter)	MCPH1, ANGPT2 (W715*)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2787902	NM_024596.5(MCPH1):c.2155T>C (p.Leu719=)	ANGPT2, MCPH1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2957761	NM_024596.5(MCPH1):c.2160T>A (p.Gly720=)	ANGPT2, MCPH1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2827242	NM_024596.5(MCPH1):c.2178G>A (p.Glu726=)	ANGPT2, MCPH1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 194122	NM_024596.5(MCPH1):c.2180C>T (p.Pro727Leu)	ANGPT2, MCPH1 (P727L)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 3003253	NM_024596.5(MCPH1):c.2181G>A (p.Pro727=)	ANGPT2, MCPH1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2986540	NM_024596.5(MCPH1):c.2184C>T (p.Phe728=)	MCPH1, ANGPT2	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1502904	NM_024596.5(MCPH1):c.2189T>A (p.Leu730Gln)	ANGPT2, MCPH1 (L730Q)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2570461	NM_024596.5(MCPH1):c.2195A>C (p.His732Pro)	ANGPT2, MCPH1 (H732P)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2834159	NM_024596.5(MCPH1):c.2196C>T (p.His732=)	ANGPT2, MCPH1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2796057	NM_024596.5(MCPH1):c.2199C>T (p.His733=)	ANGPT2, MCPH1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 908101	NM_024596.5(MCPH1):c.2199C>G (p.His733Gln)	ANGPT2, MCPH1 (H733Q)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 723421	NM_024596.5(MCPH1):c.2202C>A (p.Phe734Leu)	ANGPT2, MCPH1 (F734L)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1903763	NM_024596.5(MCPH1):c.2203C>T (p.Pro735Ser)	MCPH1, ANGPT2 (P735S)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2973774	NM_024596.5(MCPH1):c.2205T>C (p.Pro735=)	ANGPT2, MCPH1	Single nucleotide variant (intron variant +2 more)	not provided	GLikely benign
Select item 435836	NM_024596.5(MCPH1):c.2210C>G (p.Ala737Gly)	ANGPT2, MCPH1 (A737G)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +3 more	GUncertain significance
Select item 2855741	NM_024596.5(MCPH1):c.2211T>C (p.Ala737=)	ANGPT2, MCPH1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3057896	NM_024596.5(MCPH1):c.2214C>G (p.Pro738=)	ANGPT2, MCPH1	Single nucleotide variant (3 prime UTR variant +2 more)	MCPH1-related disorder	GLikely benign
Select item 158841	NM_024596.5(MCPH1):c.2214C>T (p.Pro738=)	ANGPT2, MCPH1	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2431739	NM_024596.5(MCPH1):c.2214+1G>A	ANGPT2, MCPH1	Single nucleotide variant (3 prime UTR variant +2 more)	Microcephaly 1, primary, autosomal recessive	GLikely pathogenic
Select item 2135403	NM_024596.5(MCPH1):c.2214+1_2214+3delinsTGC	ANGPT2, MCPH1	Indel (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 873472	NM_024596.5(MCPH1):c.2214+2T>C	ANGPT2, MCPH1	Single nucleotide variant (3 prime UTR variant +2 more)	Microcephaly 1, primary, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 1428133	NM_024596.5(MCPH1):c.2214+5G>T	ANGPT2, MCPH1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2826763	NM_024596.5(MCPH1):c.2214+7C>A	ANGPT2, MCPH1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2985634	NM_024596.5(MCPH1):c.2214+9G>C	ANGPT2, MCPH1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2856440	NM_024596.5(MCPH1):c.2214+10A>T	ANGPT2, MCPH1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2993747	NM_024596.5(MCPH1):c.2214+12del	ANGPT2, MCPH1	Deletion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2877384	NM_024596.5(MCPH1):c.2214+12G>A	ANGPT2, MCPH1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2871075	NM_024596.5(MCPH1):c.2214+15G>A	ANGPT2, MCPH1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2749354	NM_024596.5(MCPH1):c.2214+17T>C	ANGPT2, MCPH1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2845013	NM_024596.5(MCPH1):c.2214+18T>A	ANGPT2, MCPH1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2753986	NM_024596.5(MCPH1):c.2214+20A>G	ANGPT2, MCPH1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1177777	NM_024596.5(MCPH1):c.2214+161C>T	ANGPT2, MCPH1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1212363	NM_024596.5(MCPH1):c.2214+174G>A	ANGPT2, MCPH1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign

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