MPHOSPH9[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 more	Copy number gain	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 154387	GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1	AACS, ABCB9 +416 more	Copy number loss	See cases	GPathogenic
Select item 155183	GRCh38/hg38 12q24.31-24.32(chr12:121917758-127802717)x1	AACS, ABCB9 +330 more	Copy number loss	See cases	GPathogenic
Select item 57612	GRCh38/hg38 12q24.31-24.33(chr12:122985202-130714574)x1	AACS, ATP6V0A2 +292 more	Copy number loss	See cases	GPathogenic
Select item 3024372	GRCh38/hg38 12q24.31(chr12:123141008-123578625)	LOC129390584, LOC130009080 +45 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 2619438	NM_022782.4(MPHOSPH9):c.3532C>T (p.Arg1178Cys)	MPHOSPH9 (R1178C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233602	NM_022782.4(MPHOSPH9):c.3506T>C (p.Met1169Thr)	MPHOSPH9 (M1169T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336952	NM_022782.4(MPHOSPH9):c.3196G>A (p.Val1066Met)	MPHOSPH9 (V1066M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558077	NM_022782.4(MPHOSPH9):c.3194C>T (p.Pro1065Leu)	MPHOSPH9 (P1065L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2250406	NM_022782.4(MPHOSPH9):c.3185G>T (p.Cys1062Phe)	MPHOSPH9 (C1062F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202198	NM_022782.4(MPHOSPH9):c.3160G>A (p.Asp1054Asn)	MPHOSPH9 (D1054N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553847	NM_022782.4(MPHOSPH9):c.3160G>T (p.Asp1054Tyr)	MPHOSPH9 (D1054Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569883	NM_022782.4(MPHOSPH9):c.3061G>A (p.Val1021Ile)	MPHOSPH9 (V1021I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232372	NM_022782.4(MPHOSPH9):c.3055G>C (p.Asp1019His)	MPHOSPH9 (D1019H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359571	NM_022782.4(MPHOSPH9):c.2948A>G (p.Tyr983Cys)	MPHOSPH9 (Y983C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295698	NM_022782.4(MPHOSPH9):c.2932C>G (p.Pro978Ala)	MPHOSPH9 (P978A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206111	NM_022782.4(MPHOSPH9):c.2843G>A (p.Arg948Lys)	MPHOSPH9 (R948K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617619	NM_022782.4(MPHOSPH9):c.2831A>G (p.Gln944Arg)	MPHOSPH9 (Q944R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551203	NM_022782.4(MPHOSPH9):c.2818A>G (p.Lys940Glu)	MPHOSPH9 (K940E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459490	NM_022782.4(MPHOSPH9):c.2812C>G (p.Pro938Ala)	MPHOSPH9 (P938A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513444	NM_022782.4(MPHOSPH9):c.2807G>A (p.Arg936His)	MPHOSPH9 (R936H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2267933	NM_022782.4(MPHOSPH9):c.2722T>C (p.Phe908Leu)	MPHOSPH9 (F908L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343121	NM_022782.4(MPHOSPH9):c.2714G>A (p.Gly905Glu)	MPHOSPH9 (G905E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3295696	NM_022782.4(MPHOSPH9):c.2627G>C (p.Gly876Ala)	MPHOSPH9 (G876A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532789	NM_022782.4(MPHOSPH9):c.2516C>A (p.Ser839Tyr)	MPHOSPH9 (S839Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211326	NM_022782.4(MPHOSPH9):c.2513A>G (p.Tyr838Cys)	MPHOSPH9 (Y838C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295700	NM_022782.4(MPHOSPH9):c.2510A>G (p.Glu837Gly)	MPHOSPH9 (E837G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215695	NM_022782.4(MPHOSPH9):c.2476G>A (p.Val826Ile)	MPHOSPH9 (V826I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202162	NM_022782.4(MPHOSPH9):c.2417G>A (p.Arg806His)	MPHOSPH9 (R806H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295694	NM_022782.4(MPHOSPH9):c.2306C>T (p.Thr769Ile)	MPHOSPH9 (T769I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304808	NM_022782.4(MPHOSPH9):c.2249G>A (p.Gly750Glu)	MPHOSPH9 (G750E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465911	NM_022782.4(MPHOSPH9):c.2232G>A (p.Met744Ile)	MPHOSPH9 (M744I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620426	NM_022782.4(MPHOSPH9):c.2209C>G (p.Gln737Glu)	MPHOSPH9 (Q737E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3202145	NM_022782.4(MPHOSPH9):c.2135G>A (p.Arg712Gln)	MPHOSPH9 (R712Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202141	NM_022782.4(MPHOSPH9):c.2102C>A (p.Thr701Lys)	MPHOSPH9 (T701K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370417	NM_022782.4(MPHOSPH9):c.2084G>A (p.Arg695Gln)	MPHOSPH9 (R695Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385342	NM_022782.4(MPHOSPH9):c.2066C>A (p.Ser689Tyr)	MPHOSPH9 (S689Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202135	NM_022782.4(MPHOSPH9):c.2042G>A (p.Arg681His)	MPHOSPH9 (R681H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277965	NM_022782.4(MPHOSPH9):c.2024T>G (p.Val675Gly)	MPHOSPH9 (V675G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511281	NM_022782.4(MPHOSPH9):c.1979G>A (p.Arg660His)	MPHOSPH9 (R660H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202121	NM_022782.4(MPHOSPH9):c.1814G>A (p.Arg605Gln)	MPHOSPH9 (R605Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618007	NM_022782.4(MPHOSPH9):c.1742T>G (p.Ile581Ser)	MPHOSPH9 (I581S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346079	NM_022782.4(MPHOSPH9):c.1699C>A (p.Gln567Lys)	MPHOSPH9 (Q567K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589553	NM_022782.4(MPHOSPH9):c.1645G>T (p.Val549Phe)	MPHOSPH9 (V549F)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2390373	NM_022782.4(MPHOSPH9):c.1641C>G (p.Ile547Met)	MPHOSPH9 (I547M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519511	NM_022782.4(MPHOSPH9):c.1630A>G (p.Ser544Gly)	MPHOSPH9 (S544G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330448	NM_022782.4(MPHOSPH9):c.1585G>A (p.Glu529Lys)	MPHOSPH9 (E529K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202105	NM_022782.4(MPHOSPH9):c.1584C>A (p.Asn528Lys)	MPHOSPH9 (N528K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202100	NM_022782.4(MPHOSPH9):c.1576T>C (p.Phe526Leu)	MPHOSPH9 (F526L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310891	NM_022782.4(MPHOSPH9):c.1549C>T (p.Pro517Ser)	MPHOSPH9 (P517S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225608	NM_022782.4(MPHOSPH9):c.1538C>T (p.Thr513Ile)	MPHOSPH9 (T513I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485939	NM_022782.4(MPHOSPH9):c.1509A>C (p.Leu503Phe)	MPHOSPH9 (L503F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510478	NM_022782.4(MPHOSPH9):c.1454C>A (p.Ser485Tyr)	MPHOSPH9 (S485Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226081	NM_022782.4(MPHOSPH9):c.1454C>G (p.Ser485Cys)	MPHOSPH9 (S485C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202240	NM_022782.4(MPHOSPH9):c.1438C>A (p.Leu480Ile)	MPHOSPH9 (L480I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202238	NM_022782.4(MPHOSPH9):c.1435G>A (p.Val479Ile)	MPHOSPH9 (V479I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312680	NM_022782.4(MPHOSPH9):c.1352A>G (p.Lys451Arg)	MPHOSPH9 (K451R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295692	NM_022782.4(MPHOSPH9):c.1223C>T (p.Pro408Leu)	MPHOSPH9 (P408L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473152	NM_022782.4(MPHOSPH9):c.1202C>G (p.Thr401Ser)	MPHOSPH9 (T401S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318029	NM_022782.4(MPHOSPH9):c.1198A>G (p.Asn400Asp)	MPHOSPH9 (N400D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202228	NM_022782.4(MPHOSPH9):c.1175C>T (p.Thr392Ile)	MPHOSPH9 (T392I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402612	NM_022782.4(MPHOSPH9):c.1120A>G (p.Met374Val)	MPHOSPH9 (M374V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295699	NM_022782.4(MPHOSPH9):c.1058C>A (p.Pro353Gln)	MPHOSPH9 (P353Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295697	NM_022782.4(MPHOSPH9):c.1049A>G (p.Asp350Gly)	MPHOSPH9 (D350G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295691	NM_022782.4(MPHOSPH9):c.1037T>G (p.Leu346Arg)	MPHOSPH9 (L346R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361676	NM_022782.4(MPHOSPH9):c.1027G>C (p.Ala343Pro)	MPHOSPH9 (A343P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516626	NM_022782.4(MPHOSPH9):c.1024C>T (p.Arg342Cys)	MPHOSPH9 (R342C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623793	NM_022782.4(MPHOSPH9):c.1020T>G (p.His340Gln)	MPHOSPH9 (H340Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295693	NM_022782.4(MPHOSPH9):c.1010C>T (p.Ala337Val)	MPHOSPH9 (A337V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202220	NM_022782.4(MPHOSPH9):c.985C>G (p.Pro329Ala)	MPHOSPH9 (P329A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526927	NM_022782.4(MPHOSPH9):c.965A>G (p.Asn322Ser)	MPHOSPH9 (N322S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3202209	NM_022782.4(MPHOSPH9):c.748A>G (p.Ile250Val)	MPHOSPH9 (I250V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202187	NM_022782.4(MPHOSPH9):c.698C>T (p.Ala233Val)	MPHOSPH9 (A233V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2394669	NM_022782.4(MPHOSPH9):c.649G>A (p.Glu217Lys)	MPHOSPH9 (E217K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202128	NM_022782.4(MPHOSPH9):c.608G>C (p.Cys203Ser)	MPHOSPH9 (C203S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 307492	NM_152269.4(MTRFR):c.-206G>T	MPHOSPH9, MTRFR	Single nucleotide variant (genic upstream transcript variant)	Combined oxidative phosphorylation defect type 7	GUncertain significance
Select item 882665	NM_152269.4(MTRFR):c.-166T>C	MPHOSPH9, MTRFR	Single nucleotide variant (genic upstream transcript variant)	Combined oxidative phosphorylation defect type 7	GUncertain significance
Select item 882666	NM_152269.4(MTRFR):c.-132A>G	MPHOSPH9, MTRFR	Single nucleotide variant (genic upstream transcript variant)	Combined oxidative phosphorylation defect type 7	GUncertain significance
Select item 307493	NM_152269.4(MTRFR):c.-128C>T	MPHOSPH9, MTRFR	Single nucleotide variant (genic upstream transcript variant)	Combined oxidative phosphorylation defect type 7	GUncertain significance
Select item 882667	NM_152269.5(MTRFR):c.-51C>T	MPHOSPH9, MTRFR	Single nucleotide variant (5 prime UTR variant)	Combined oxidative phosphorylation defect type 7	GUncertain significance
Select item 671535	NM_152269.5(MTRFR):c.-29+223C>T	MPHOSPH9, MTRFR	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 3244258	NC_000012.11:g.(?_120270555)_(124242579_?)dup	ABCB9, ACADS +73 more	Duplication	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 3063256	GRCh37/hg19 12q24.31(chr12:123640263-124319101)x1	ATP6V0A2, CDK2AP1 +13 more	Copy number loss	not specified	GUncertain significance
Select item 3063249	GRCh37/hg19 12q24.31(chr12:123586597-124015352)x3	CDK2AP1, KMT5A +7 more	Copy number gain	not specified	GUncertain significance
Select item 3063242	GRCh37/hg19 12q24.31(chr12:123651965-124044014)x3	CDK2AP1, KMT5A +6 more	Copy number gain	not specified	GUncertain significance
Select item 2684685	GRCh37/hg19 12q24.31-24.33(chr12:121551496-133777902)x3	AACS, ABCB9 +93 more	Copy number gain	not provided	GPathogenic
Select item 2684684	GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3	AACS, ABCB9 +108 more	Copy number gain	not provided	GPathogenic
Select item 2580326	GRCh37/hg19 12q24.31(chr12:121341598-124103434)x3	ABCB9, ANAPC5 +48 more	Copy number gain	See cases	GUncertain significance
Select item 2426783	NC_000012.11:g.(?_122277634)_(124242579_?)del	ABCB9, ARL6IP4 +37 more	Deletion	not provided	GUncertain significance
Select item 1527745	GRCh37/hg19 12q24.31(chr12:122938957-123747037)	ABCB9, ARL6IP4 +15 more	Copy number gain	not specified	GUncertain significance
Select item 1330196	GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	AACS, ABCB9 +135 more	Copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 687704	GRCh37/hg19 12q24.31-24.32(chr12:122169403-129084163)x1	AACS, ABCB9 +52 more	Copy number loss	not provided	GPathogenic
Select item 686311	GRCh37/hg19 12q24.31(chr12:123674527-123803851)x3	CDK2AP1, MPHOSPH9 +2 more	Copy number gain	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 393913	GRCh37/hg19 12q24.31(chr12:123404920-124192840)	ABCB9, ARL6IP4 +15 more	Copy number gain	See cases	GLikely pathogenic

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