ClinVar for Gene (Select 285) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362424	NM_001118887.2(ANGPT2):c.958G>C (p.Gly320Arg)	ANGPT2, MCPH1 (G268R +3 more)	Single nucleotide variant (missense variant +1 more)	Lymphatic malformation 10	GUncertain significance
Select item 3341635	NM_001118887.2(ANGPT2):c.1155G>C (p.Leu385Phe)	ANGPT2, MCPH1 (L333F +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3294044	NM_001118887.2(ANGPT2):c.212T>C (p.Leu71Pro)	ANGPT2, MCPH1 (L71P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3245597	NC_000008.10:g.(?_6264189)_(6479232_?)del	ANGPT2, MCPH1	Deletion	not provided	GPathogenic
Select item 3239126	NM_001118887.2(ANGPT2):c.714G>A (p.Thr238=)	ANGPT2, MCPH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3234550	NM_001118887.2(ANGPT2):c.1394C>G (p.Thr465Arg)	MCPH1, ANGPT2 (T413R +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 3148928	GRCh37/hg19 8p23.3-22(chr8:158049-16225393)x3	AGPAT5, ANGPT2 +77 more	Copy number gain	See cases	GPathogenic
Select item 3118330	NM_001118887.2(ANGPT2):c.855A>T (p.Glu285Asp)	ANGPT2, MCPH1 (E233D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118292	NM_001118887.2(ANGPT2):c.222T>G (p.Asp74Glu)	ANGPT2, MCPH1 (D74E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118269	NM_001118887.2(ANGPT2):c.1099C>T (p.Arg367Cys)	ANGPT2, MCPH1 (R316C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3065084	NM_024596.5(MCPH1):c.2214+13834T>G	ANGPT2, MCPH1 (K319Q +3 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 1, primary, autosomal recessive	GUncertain significance
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063017	GRCh37/hg19 8p23.1(chr8:6238192-6537470)x1	ANGPT2, MCPH1	Copy number loss	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3063002	GRCh37/hg19 8p23.2-23.1(chr8:5908975-6631197)x1	AGPAT5, ANGPT2 +1 more	Copy number loss	not specified	GPathogenic
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 3046197	NM_001118887.2(ANGPT2):c.139C>T (p.Leu47=)	ANGPT2, MCPH1	Single nucleotide variant (synonymous variant +1 more)	ANGPT2-related disorder	GLikely benign
Select item 3032006	NM_001118887.2(ANGPT2):c.300T>C (p.Tyr100=)	ANGPT2, MCPH1	Single nucleotide variant (synonymous variant +1 more)	ANGPT2-related disorder	GLikely benign
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 2993747	NM_024596.5(MCPH1):c.2214+12del	ANGPT2, MCPH1	Deletion (3 prime UTR variant +1 more)	not provided	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 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 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 2811450	NM_001118887.2(ANGPT2):c.125G>A (p.Ser42Asn)	ANGPT2, MCPH1 (S42N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 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 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 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 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 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 2685295	GRCh37/hg19 8p23.2-23.1(chr8:6112580-6498511)x1	ANGPT2, MCPH1	Copy number loss	not provided	GUncertain significance
Select item 2685283	GRCh37/hg19 8p23.3-23.1(chr8:158049-8192683)x1	DEFB104A, DEFB104B +39 more	Copy number loss	not provided	GPathogenic
Select item 2685282	GRCh37/hg19 8p23.3-23.1(chr8:158049-11898696)x1	DEFB105A, DEFB107B +64 more	Copy number loss	not provided	GPathogenic
Select item 2685281	GRCh37/hg19 8p23.3-23.1(chr8:158049-10007143)x1	DEFB1, DEFB107A +46 more	Copy number loss	not provided	GPathogenic
Select item 2685280	GRCh37/hg19 8p23.3-23.1(chr8:158049-8093066)x1	CLN8, CSMD1 +39 more	Copy number loss	not provided	GPathogenic
Select item 2684521	GRCh37/hg19 8p23.2-23.1(chr8:6016801-6999114)x3	AGPAT5, ANGPT2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	SMIM18, SORBS3 +225 more	Copy number gain	not provided	GPathogenic
Select item 2684515	GRCh37/hg19 8p23.3-23.1(chr8:158049-7044046)x3	AGPAT5, ANGPT2 +19 more	Copy number gain	not provided	GUncertain significance
Select item 2671622	Single allele	AGPAT5, ANGPT2 +22 more	Deletion	not provided	GPathogenic
Select item 2614544	NM_001118887.2(ANGPT2):c.982G>A (p.Glu328Lys)	ANGPT2, MCPH1 (E329K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611481	NM_001118887.2(ANGPT2):c.161G>T (p.Arg54Leu)	ANGPT2, MCPH1 (R54L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2580354	GRCh37/hg19 8p23.3-23.1(chr8:10501-6614959)x1	TDRP, ZNF596 +12 more	Copy number loss	See cases	GLikely pathogenic
Select item 2580328	GRCh37/hg19 8p23.3-23.1(chr8:10501-11142629)x1	AGPAT5, ANGPT2 +55 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 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 2568496	NM_001118887.2(ANGPT2):c.1389G>T (p.Gln463His)	ANGPT2, MCPH1 (Q411H +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2526445	NM_001118887.2(ANGPT2):c.322G>C (p.Glu108Gln)	ANGPT2, MCPH1 (E108Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522690	NM_001118887.2(ANGPT2):c.256A>T (p.Ile86Phe)	ANGPT2, MCPH1 (I86F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521776	NM_001118887.2(ANGPT2):c.785T>C (p.Met262Thr)	ANGPT2, MCPH1 (M210T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518435	NM_001118887.2(ANGPT2):c.713C>T (p.Thr238Met)	ANGPT2, MCPH1 (T186M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459371	NM_001118887.2(ANGPT2):c.374T>C (p.Ile125Thr)	ANGPT2, MCPH1 (I125T)	Single nucleotide variant (missense variant +1 more)	not specified	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 2426845	NC_000008.10:g.(?_6357353)_(6357470_?)del	ANGPT2, MCPH1	Deletion	not provided	GUncertain significance
Select item 2426843	NC_000008.10:g.(?_6372178)_(6500570_?)del	ANGPT2, MCPH1	Deletion	not provided	GUncertain significance
Select item 2426840	NC_000008.10:g.(?_6264189)_(6500570_?)del	ANGPT2, MCPH1	Deletion	not provided	GPathogenic
Select item 2338259	NM_001118887.2(ANGPT2):c.292G>A (p.Glu98Lys)	ANGPT2, MCPH1 (E98K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330117	NM_001118887.2(ANGPT2):c.526G>A (p.Asp176Asn)	ANGPT2, MCPH1 (D124N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320890	NM_001118887.2(ANGPT2):c.602A>G (p.Lys201Arg)	ANGPT2, MCPH1 (K149R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300946	NM_001118887.2(ANGPT2):c.68G>C (p.Arg23Pro)	ANGPT2, MCPH1 (R23P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291629	NM_001118887.2(ANGPT2):c.1423T>C (p.Tyr475His)	ANGPT2, MCPH1 (Y475H +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2278339	NM_001118887.2(ANGPT2):c.182T>G (p.Val61Gly)	ANGPT2, MCPH1 (V61G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256442	NM_001118887.2(ANGPT2):c.630A>C (p.Lys210Asn)	ANGPT2, MCPH1 (K158N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242859	NM_001118887.2(ANGPT2):c.1105G>A (p.Val369Met)	ANGPT2, MCPH1 (V370M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204255	NM_001118887.2(ANGPT2):c.556G>C (p.Asp186His)	ANGPT2, MCPH1 (D186H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 1808721	GRCh37/hg19 8p23.3-23.1(chr8:158049-10965627)x1	AGPAT5, ANGPT2 +53 more	Copy number loss	not provided	GPathogenic
Select item 1808083	GRCh37/hg19 8p23.1(chr8:6284373-9047178)x3	AGPAT5, ANGPT2 +33 more	Copy number gain	not provided	GUncertain significance
Select item 1807751	GRCh37/hg19 8p23.3-22(chr8:158049-18936715)x1	AGPAT5, ANGPT2 +93 more	Copy number loss	not provided	GPathogenic
Select item 1711669	NM_001118887.2(ANGPT2):c.882T>C (p.Asn294=)	ANGPT2, MCPH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1711134	Single allele	CDCA2, CLDN23 +250 more	Complex	See cases	GPathogenic
Select item 1708195	GRCh37/hg19 8p23.3-23.1(chr8:158048-11281408)x1	AGPAT5, ANGPT2 +56 more	Copy number loss	See cases	GPathogenic
Select item 1707427	GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1	ADAM28, ADAM7 +180 more	Copy number loss	See cases	GPathogenic
Select item 1703666	GRCh37/hg19 8p23.3-23.1(chr8:158048-10348413)	AGPAT5, ANGPT2 +46 more	Copy number gain	Neurodevelopmental delay	GPathogenic
Select item 1703665	Single allele	ADAMDEC1, ADGRA2 +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
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 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 1527421	GRCh37/hg19 8p23.2-23.1(chr8:5968739-6496889)	ANGPT2, MCPH1	Copy number gain	not specified	GUncertain significance
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 1456804	NC_000008.10:g.(?_6264189)_(6420455_?)del	ANGPT2, MCPH1	Deletion	not provided	GPathogenic
Select item 1450079	NC_000008.10:g.(?_6299568)_(6500570_?)del	ANGPT2, MCPH1	Deletion	not provided	GUncertain significance
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 1339975	GRCh37/hg19 8p23.3-23.1(chr8:158048-11936107)x3	AGPAT5, ANGPT2 +64 more	Copy number gain	not provided	GPathogenic
Select item 1330178	GRCh37/hg19 8p23.3-23.1(chr8:10501-7214947)x1	FBXO25, USP17L4 +22 more	Copy number loss	Single transverse palmar crease +6 more	GPathogenic
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 1251032	NM_024596.5(MCPH1):c.2137-182T>C	ANGPT2, MCPH1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign

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