ClinVar for Gene (Select 100507530) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341808	NM_024596.5(MCPH1):c.2452+3204G>C	MCPH1, MCPH1-AS1	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GBenign
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 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 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)	not provided	GLikely benign
Select item 3023229	NM_024596.5(MCPH1):c.2453-19C>T	MCPH1, MCPH1-AS1	Single nucleotide variant (intron variant)	not provided	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, MCPH1-AS1	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 3002518	NM_024596.5(MCPH1):c.2215-19A>C	MCPH1-AS1, MCPH1	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 (3 prime UTR 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 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, MCPH1-AS1	Single nucleotide variant (intron variant)	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 (non-coding transcript 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 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 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 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 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 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 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 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 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-AS1, MCPH1	Single nucleotide variant (3 prime UTR variant +1 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 2777174	NM_024596.5(MCPH1):c.2427G>A (p.Lys809=)	MCPH1, MCPH1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2752730	NM_024596.5(MCPH1):c.2353C>A (p.Arg785=)	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript 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 2743307	NM_024596.5(MCPH1):c.2452+11A>C	MCPH1, MCPH1-AS1	Single nucleotide variant (intron variant)	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 (missense 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 (non-coding transcript variant +1 more)	MCPH1-related disorder	GLikely pathogenic
Select item 2612652	NM_024596.5(MCPH1):c.2462C>G (p.Thr821Ser)	MCPH1, MCPH1-AS1 (H868Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2581189	NM_024596.5(MCPH1):c.2404G>T (p.Gly802Ter)	MCPH1, MCPH1-AS1 (G709* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive primary microcephaly	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 2369795	NM_024596.5(MCPH1):c.2249C>G (p.Pro750Arg)	MCPH1, MCPH1-AS1 (P657R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2287067	NM_024596.5(MCPH1):c.2329G>A (p.Glu777Lys)	MCPH1, MCPH1-AS1 (E684K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2186041	NM_024596.5(MCPH1):c.2426A>C (p.Lys809Thr)	MCPH1, MCPH1-AS1 (K809T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2175936	NM_024596.5(MCPH1):c.2386G>A (p.Val796Ile)	MCPH1, MCPH1-AS1 (V796I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 2105774	NM_024596.5(MCPH1):c.2215-1_2215delinsTT	MCPH1, MCPH1-AS1	Indel (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2018305	NM_024596.5(MCPH1):c.2294C>T (p.Ser765Leu)	MCPH1, MCPH1-AS1 (S765L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2014309	NM_024596.5(MCPH1):c.2310C>T (p.Pro770=)	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2012007	NM_024596.5(MCPH1):c.2379C>T (p.Ala793=)	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1985969	NM_024596.5(MCPH1):c.2453-10C>G	MCPH1, MCPH1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1957917	NM_024596.5(MCPH1):c.2215-12_2215-9del	MCPH1, MCPH1-AS1	Microsatellite (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1947991	NM_024596.5(MCPH1):c.2215-2_2253dup	MCPH1, MCPH1-AS1	Duplication (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1944323	NM_024596.5(MCPH1):c.2452+7del	MCPH1, MCPH1-AS1	Deletion (intron variant)	not provided	GLikely benign
Select item 1942210	NM_024596.5(MCPH1):c.2418C>G (p.Ala806=)	MCPH1, MCPH1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1922648	NM_024596.5(MCPH1):c.2354G>A (p.Arg785Gln)	MCPH1, MCPH1-AS1 (R692Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1919634	NM_024596.5(MCPH1):c.2403C>T (p.Ser801=)	MCPH1, MCPH1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1906238	NM_024596.5(MCPH1):c.2215-19_2215-16del	MCPH1, MCPH1-AS1	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1696523	NM_024596.5(MCPH1):c.2400C>A (p.Tyr800Ter)	MCPH1, MCPH1-AS1 (Y707* +1 more)	Single nucleotide variant (nonsense)	Microcephaly 1, primary, autosomal recessive	GUncertain significance
Select item 1696389	NM_024596.5(MCPH1):c.2410A>T (p.Lys804Ter)	MCPH1, MCPH1-AS1 (K711* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive primary microcephaly	GLikely pathogenic
Select item 1676095	NM_024596.5(MCPH1):c.2358C>A (p.Val786=)	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1634659	NM_024596.5(MCPH1):c.2215-20_2215-19delinsCG	MCPH1-AS1, MCPH1	Indel (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1633483	NM_024596.5(MCPH1):c.2215-12T>G	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1631780	NM_024596.5(MCPH1):c.2215-19_2215-18delinsGC	MCPH1, MCPH1-AS1	Indel (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 1558956	NM_024596.5(MCPH1):c.2355G>T (p.Arg785=)	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1535743	NM_024596.5(MCPH1):c.2346C>T (p.Cys782=)	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1485993	NM_024596.5(MCPH1):c.2378C>G (p.Ala793Gly)	MCPH1, MCPH1-AS1 (A700G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1485262	NM_024596.5(MCPH1):c.2256_2257delinsGC (p.Gly753Arg)	MCPH1, MCPH1-AS1 (G753R +1 more)	Indel (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1457265	NM_024596.5(MCPH1):c.2341C>T (p.Leu781=)	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1435238	NM_024596.5(MCPH1):c.2417_2418delinsTA (p.Ala806Val)	MCPH1, MCPH1-AS1 (A713V +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 1389902	NM_024596.5(MCPH1):c.2312C>T (p.Pro771Leu)	MCPH1, MCPH1-AS1 (P771L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance

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