Related gene-specific medical variations for Gene (Select 79648) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3124472	NM_024596.5(MCPH1):c.2369C>G (p.Pro790Arg)	MCPH1, MCPH1-AS1 (P790R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3067465	NM_024596.5(MCPH1):c.2452+4333G>A	MCPH1, MCPH1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 3063004	GRCh37/hg19 8p23.2-23.1(chr8:6174886-6300232)x1	MCPH1	Copy number loss	not specified	GUncertain significance
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 condition	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 condition	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 condition	GLikely benign
Select item 3026595	NM_024596.5(MCPH1):c.2452+176C>G	MCPH1, MCPH1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3025932	NM_024596.5(MCPH1):c.2453-5080C>G	MCPH1, MCPH1-AS1	Single nucleotide variant (synonymous variant +1 more)	MCPH1-related condition +1 more	GLikely benign
Select item 3023229	NM_024596.5(MCPH1):c.2453-19C>T	MCPH1, MCPH1-AS1	Single nucleotide variant (intron variant)	MCPH1-related condition +1 more	GLikely benign
Select item 3015000	NM_024596.5(MCPH1):c.2397C>G (p.Pro799=)	MCPH1, MCPH1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013873	NM_024596.5(MCPH1):c.2499G>A (p.Leu833=)	MCPH1, MCPH1-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3011066	NM_024596.5(MCPH1):c.2385C>T (p.Ile795=)	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3006840	NM_024596.5(MCPH1):c.2358C>T (p.Val786=)	MCPH1-AS1, MCPH1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3006356	NM_024596.5(MCPH1):c.2436T>C (p.Ser812=)	MCPH1, MCPH1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005661	NM_024596.5(MCPH1):c.2215-15C>T	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3003762	NM_024596.5(MCPH1):c.2215-14T>C	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3003279	NM_024596.5(MCPH1):c.2223A>G (p.Arg741=)	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	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 3002518	NM_024596.5(MCPH1):c.2215-19A>C	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3002287	NM_024596.5(MCPH1):c.2497T>C (p.Leu833=)	MCPH1, MCPH1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2994230	NM_024596.5(MCPH1):c.2322G>A (p.Lys774=)	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript 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 2991302	NM_024596.5(MCPH1):c.2332C>T (p.Leu778=)	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2987488	NM_024596.5(MCPH1):c.2452+10C>T	MCPH1-AS1, MCPH1	Single nucleotide variant (intron variant)	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=)	ANGPT2, MCPH1	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 (intron variant +1 more)	not provided	GLikely benign
Select item 2980550	NM_024596.5(MCPH1):c.2367C>A (p.Val789=)	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2979579	NM_024596.5(MCPH1):c.2215-20T>C	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2974470	NM_024596.5(MCPH1):c.2361C>T (p.Ser787=)	MCPH1, MCPH1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2973774	NM_024596.5(MCPH1):c.2205T>C (p.Pro735=)	ANGPT2, MCPH1	Single nucleotide variant (3 prime UTR 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 2970770	NM_024596.5(MCPH1):c.2453-17T>C	MCPH1, MCPH1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969078	NM_024596.5(MCPH1):c.2337C>T (p.Val779=)	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2967907	NM_024596.5(MCPH1):c.2265C>G (p.Leu755=)	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2967023	NM_024596.5(MCPH1):c.2247G>A (p.Gly749=)	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2962324	NM_024596.5(MCPH1):c.2502A>C (p.Ser834=)	MCPH1, MCPH1-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2960396	NM_024596.5(MCPH1):c.2271C>T (p.Ala757=)	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript 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 2899795	NM_024596.5(MCPH1):c.2391C>T (p.Ile797=)	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2897300	NM_024596.5(MCPH1):c.2409G>A (p.Lys803=)	MCPH1, MCPH1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896693	NM_024596.5(MCPH1):c.2463C>T (p.Thr821=)	MCPH1, MCPH1-AS1 (P869S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2893981	NM_024596.5(MCPH1):c.2244A>C (p.Ala748=)	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2893354	NM_024596.5(MCPH1):c.2250G>A (p.Pro750=)	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript 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 2875706	NM_024596.5(MCPH1):c.2453-4C>A	MCPH1, MCPH1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875663	NM_024596.5(MCPH1):c.2343G>A (p.Leu781=)	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2873170	NM_024596.5(MCPH1):c.2283G>A (p.Ala761=)	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript 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 2859133	NM_024596.5(MCPH1):c.2430T>C (p.Tyr810=)	MCPH1, MCPH1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2857191	NM_024596.5(MCPH1):c.2453-12CT[6]	MCPH1, MCPH1-AS1	Microsatellite (intron variant)	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 2846801	NM_024596.5(MCPH1):c.2282_2283delinsTA (p.Ala761Val)	MCPH1, MCPH1-AS1 (A668V +1 more)	Indel (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2846539	NM_024596.5(MCPH1):c.2452+17A>G	MCPH1, MCPH1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2845079	NM_024596.5(MCPH1):c.2494C>T (p.Leu832=)	MCPH1, MCPH1-AS1	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 2843352	NM_024596.5(MCPH1):c.2215-17C>G	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2834638	NM_024596.5(MCPH1):c.2215-13G>A	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript 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 2824651	NM_024596.5(MCPH1):c.2325C>G (p.Leu775=)	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2824401	NM_024596.5(MCPH1):c.2388C>T (p.Val796=)	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2818520	NM_024596.5(MCPH1):c.2452+14CA[2]	MCPH1, MCPH1-AS1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2817736	NM_024596.5(MCPH1):c.2367C>G (p.Val789=)	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript 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 2811102	NM_024596.5(MCPH1):c.2484T>G (p.Pro828=)	MCPH1, MCPH1-AS1	Single nucleotide variant (stop lost +1 more)	not provided	GLikely benign
Select item 2810359	NM_024596.5(MCPH1):c.2452+14C>A	MCPH1, MCPH1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2807816	NM_024596.5(MCPH1):c.2215-15_2215-14del	MCPH1, MCPH1-AS1	Microsatellite (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2801441	NM_024596.5(MCPH1):c.2215-19_2215-18del	MCPH1, MCPH1-AS1	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2796364	NM_024596.5(MCPH1):c.2436T>G (p.Ser812=)	MCPH1, MCPH1-AS1	Single nucleotide variant (synonymous variant)	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 2794463	NM_024596.5(MCPH1):c.2453-4C>G	MCPH1, MCPH1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2792542	NM_024596.5(MCPH1):c.2307C>T (p.Ser769=)	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2788747	NM_024596.5(MCPH1):c.2490C>T (p.Asn830=)	MCPH1, MCPH1-AS1	Single nucleotide variant (3 prime UTR variant +1 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 2782910	NM_024596.5(MCPH1):c.2292C>T (p.Val764=)	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 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 2777174	NM_024596.5(MCPH1):c.2427G>A (p.Lys809=)	MCPH1, MCPH1-AS1	Single nucleotide variant (synonymous variant)	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 2752730	NM_024596.5(MCPH1):c.2353C>A (p.Arg785=)	MCPH1, MCPH1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2751510	NM_024596.5(MCPH1):c.2397C>A (p.Pro799=)	MCPH1, MCPH1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2750972	NM_024596.5(MCPH1):c.2421A>G (p.Thr807=)	MCPH1, MCPH1-AS1	Single nucleotide variant (synonymous variant)	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 2743307	NM_024596.5(MCPH1):c.2452+11A>C	MCPH1, MCPH1-AS1	Single nucleotide variant (intron variant)	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 2731950	NM_024596.5(MCPH1):c.2268T>C (p.Phe756=)	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2725772	NM_024596.5(MCPH1):c.2472G>A (p.Lys824=)	MCPH1, MCPH1-AS1 (G872S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2697568	NM_024596.5(MCPH1):c.2460C>T (p.Ile820=)	MCPH1, MCPH1-AS1 (H868Y)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2694059	NM_024596.5(MCPH1):c.2496A>G (p.Leu832=)	MCPH1, MCPH1-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2658351	NM_024596.5(MCPH1):c.2452+4309G>A	MCPH1, MCPH1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2637846	NM_024596.5(MCPH1):c.2422G>A (p.Val808Ile)	MCPH1, MCPH1-AS1 (V715I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2630629	NM_024596.5(MCPH1):c.2215-1G>T	MCPH1, MCPH1-AS1	Single nucleotide variant (splice acceptor variant +1 more)	MCPH1-related condition	GLikely pathogenic

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