ClinVar for Gene (Select 79648) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3373475	NM_024596.5(MCPH1):c.2440A>T (p.Lys814Ter)	MCPH1-AS1, MCPH1 (K721* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3368055	NM_024596.5(MCPH1):c.1037A>G (p.His346Arg)	MCPH1 (H298R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3366812	NC_000008.10:g.(?_6264147)_(6303069_6312663)dup	MCPH1	Duplication	not specified	GUncertain significance
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 3361762	NM_024596.5(MCPH1):c.2214+3294C>T	MCPH1 (G404R +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3360957	NM_024596.5(MCPH1):c.1956G>C (p.Met652Ile)	MCPH1 (M652I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 3293738	NM_024596.5(MCPH1):c.1517C>T (p.Ala506Val)	MCPH1 (A506V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3293737	NM_024596.5(MCPH1):c.2027C>T (p.Ala676Val)	MCPH1 (A676V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3293736	NM_024596.5(MCPH1):c.1036C>A (p.His346Asn)	MCPH1 (H298N +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3293734	NM_024596.5(MCPH1):c.29T>G (p.Val10Gly)	MCPH1 (V10G +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3293733	NM_024596.5(MCPH1):c.1132A>T (p.Arg378Trp)	MCPH1 (R344W +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3252645	NM_024596.5(MCPH1):c.236G>T (p.Cys79Phe)	MCPH1 (C45F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 3245604	NC_000008.10:g.(?_6266780)_(6272424_?)del	MCPH1	Deletion	not provided	GPathogenic
Select item 3245603	NC_000008.10:g.(?_6335095)_(6338417_?)del	MCPH1	Deletion	not provided	GUncertain significance
Select item 3245601	NC_000008.10:g.(?_6264189)_(6303088_?)del	MCPH1	Deletion	not provided	GPathogenic
Select item 3245600	NC_000008.10:g.(?_6264189)_(6293703_?)del	MCPH1	Deletion	not provided	GPathogenic
Select item 3245599	NC_000008.10:g.(?_6264189)_(6289127_?)del	MCPH1	Deletion	not provided	GPathogenic
Select item 3245598	NC_000008.10:g.(?_6264189)_(6272424_?)del	MCPH1	Deletion	not provided	GPathogenic
Select item 3245597	NC_000008.10:g.(?_6264189)_(6479232_?)del	ANGPT2, MCPH1	Deletion	not provided	GPathogenic
Select item 3245596	NC_000008.10:g.(?_6264189)_(6338417_?)del	MCPH1	Deletion	not provided	GPathogenic
Select item 3245595	NC_000008.10:g.(?_6264189)_(6335172_?)del	MCPH1	Deletion	not provided	GPathogenic
Select item 3245594	NC_000008.10:g.(?_6289000)_(6289127_?)del	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 3124477	NM_024596.5(MCPH1):c.838T>G (p.Phe280Val)	MCPH1 (F232V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3124476	NM_024596.5(MCPH1):c.494C>G (p.Thr165Arg)	MCPH1 (T163R +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3124474	NM_024596.5(MCPH1):c.362C>T (p.Pro121Leu)	MCPH1 (P119L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124473	NM_024596.5(MCPH1):c.343G>T (p.Asp115Tyr)	MCPH1 (D115Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3124469	NM_024596.5(MCPH1):c.2104G>T (p.Ala702Ser)	MCPH1 (A702S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3124468	NM_024596.5(MCPH1):c.1892T>G (p.Ile631Ser)	MCPH1 (I631S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124466	NM_024596.5(MCPH1):c.1484C>T (p.Thr495Ile)	MCPH1 (T447I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3124465	NM_024596.5(MCPH1):c.1261C>T (p.Leu421Phe)	MCPH1 (L387F +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3124464	NM_024596.5(MCPH1):c.122A>G (p.Lys41Arg)	MCPH1 (K39R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3124463	NM_024596.5(MCPH1):c.103A>G (p.Met35Val)	MCPH1 (M33V +2 more)	Single nucleotide variant (missense variant +2 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 3067525	NM_024596.5(MCPH1):c.1485T>G (p.Thr495=)	MCPH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 3063862	NM_024596.5(MCPH1):c.670+5A>C	MCPH1	Single nucleotide variant (intron variant)	not specified	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 3063004	GRCh37/hg19 8p23.2-23.1(chr8:6174886-6300232)x1	MCPH1	Copy number loss	not specified	GUncertain significance
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 3058778	NM_024596.5(MCPH1):c.-5C>G	MCPH1	Single nucleotide variant (5 prime UTR variant +1 more)	MCPH1-related disorder	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 3050955	NM_024596.5(MCPH1):c.-8C>T	MCPH1	Single nucleotide variant (5 prime UTR variant +1 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 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 3023795	NM_024596.5(MCPH1):c.942C>T (p.Asp314=)	MCPH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3023397	NM_024596.5(MCPH1):c.1893C>A (p.Ile631=)	MCPH1	Single nucleotide variant (synonymous variant)	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 3023148	NM_024596.5(MCPH1):c.876G>T (p.Leu292=)	MCPH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3022458	NM_024596.5(MCPH1):c.671-15G>A	MCPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022454	NM_024596.5(MCPH1):c.114+12A>G	MCPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021738	NM_024596.5(MCPH1):c.1875C>T (p.Asp625=)	MCPH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021729	NM_024596.5(MCPH1):c.1188C>T (p.His396=)	MCPH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3020295	NM_024596.5(MCPH1):c.1944A>G (p.Arg648=)	MCPH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3019856	NM_024596.5(MCPH1):c.1551C>T (p.Asp517=)	MCPH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3019560	NM_024596.5(MCPH1):c.1155G>A (p.Leu385=)	MCPH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3019375	NM_024596.5(MCPH1):c.18G>A (p.Leu6=)	MCPH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3018272	NM_024596.5(MCPH1):c.1311A>C (p.Ser437=)	MCPH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3017242	NM_024596.5(MCPH1):c.27A>G (p.Val9=)	MCPH1	Single nucleotide variant (synonymous variant +3 more)	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 3013935	NM_024596.5(MCPH1):c.2037C>G (p.Val679=)	MCPH1	Single nucleotide variant (synonymous variant +1 more)	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 3011500	NM_024596.5(MCPH1):c.1467T>C (p.Asn489=)	MCPH1	Single nucleotide variant (synonymous 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 3010419	NM_024596.5(MCPH1):c.2091G>A (p.Val697=)	MCPH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3010015	NM_024596.5(MCPH1):c.233+16C>T	MCPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008906	NM_024596.5(MCPH1):c.128_129del (p.Thr42_Phe43insTer)	MCPH1	Deletion (nonsense +1 more)	not provided	GPathogenic
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 3006781	NM_024596.5(MCPH1):c.1836T>C (p.Asn612=)	MCPH1	Single nucleotide variant (synonymous variant)	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 3004559	NM_024596.5(MCPH1):c.1509T>G (p.Pro503=)	MCPH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3004228	NM_024596.5(MCPH1):c.1974-19T>A	MCPH1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 3004177	NM_024596.5(MCPH1):c.1554A>G (p.Ala518=)	MCPH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3004024	NM_024596.5(MCPH1):c.436+15A>G	MCPH1	Single nucleotide variant (intron variant)	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 3002765	NM_024596.5(MCPH1):c.1826-12C>G	MCPH1	Single nucleotide variant (intron variant)	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 3001066	NM_024596.5(MCPH1):c.414A>G (p.Leu138=)	MCPH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999215	NM_024596.5(MCPH1):c.233+19A>C	MCPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999075	NM_024596.5(MCPH1):c.114+9C>G	MCPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998943	NM_024596.5(MCPH1):c.1453C>A (p.Arg485=)	MCPH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2998554	NM_024596.5(MCPH1):c.156C>T (p.Phe52=)	MCPH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2998358	NM_024596.5(MCPH1):c.670+12A>G	MCPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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