ClinVar for Gene (Select 10199) - ClinVar

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Links from Gene

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3397635	NM_005791.3(MPHOSPH10):c.933A>C (p.Glu311Asp)	MPHOSPH10 (E311D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3397634	NM_005791.3(MPHOSPH10):c.1235G>A (p.Arg412Gln)	MPHOSPH10 (R412Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3397633	NM_005791.3(MPHOSPH10):c.858G>T (p.Glu286Asp)	MPHOSPH10 (E286D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3397632	NM_005791.3(MPHOSPH10):c.1891A>G (p.Ile631Val)	MPHOSPH10 (I631V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3397631	NM_005791.3(MPHOSPH10):c.944T>G (p.Leu315Arg)	MPHOSPH10 (L315R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3397630	NM_005791.3(MPHOSPH10):c.721G>T (p.Asp241Tyr)	MPHOSPH10 (D241Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3397629	NM_005791.3(MPHOSPH10):c.489C>G (p.Ser163Arg)	MPHOSPH10 (S163R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3397628	NM_005791.3(MPHOSPH10):c.1369C>T (p.Arg457Cys)	MPHOSPH10 (R457C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3397627	NM_005791.3(MPHOSPH10):c.985A>G (p.Lys329Glu)	MPHOSPH10 (K329E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3397626	NM_005791.3(MPHOSPH10):c.1612G>A (p.Val538Ile)	MPHOSPH10 (V538I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3397625	NM_005791.3(MPHOSPH10):c.1757G>A (p.Arg586His)	MPHOSPH10 (R586H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3295679	NM_005791.3(MPHOSPH10):c.630G>A (p.Met210Ile)	MPHOSPH10 (M210I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295678	NM_005791.3(MPHOSPH10):c.784A>G (p.Arg262Gly)	MPHOSPH10 (R262G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295677	NM_005791.3(MPHOSPH10):c.802G>C (p.Asp268His)	MPHOSPH10 (D268H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201941	NM_005791.3(MPHOSPH10):c.940G>A (p.Asp314Asn)	MPHOSPH10 (D314N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201927	NM_005791.3(MPHOSPH10):c.86T>A (p.Leu29His)	MPHOSPH10 (L29H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201910	NM_005791.3(MPHOSPH10):c.556G>A (p.Val186Met)	MPHOSPH10 (V186M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201901	NM_005791.3(MPHOSPH10):c.421A>T (p.Met141Leu)	MPHOSPH10 (M141L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3201895	NM_005791.3(MPHOSPH10):c.343C>T (p.Arg115Cys)	MPHOSPH10 (R115C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3201889	NM_005791.3(MPHOSPH10):c.1955A>T (p.Asp652Val)	MPHOSPH10 (D652V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201885	NM_005791.3(MPHOSPH10):c.1881A>C (p.Lys627Asn)	MPHOSPH10 (K627N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201876	NM_005791.3(MPHOSPH10):c.1783C>T (p.Arg595Trp)	MPHOSPH10 (R595W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201870	NM_005791.3(MPHOSPH10):c.1709C>T (p.Thr570Ile)	MPHOSPH10 (T570I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201861	NM_005791.3(MPHOSPH10):c.1671A>C (p.Lys557Asn)	MPHOSPH10 (K557N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201858	NM_005791.3(MPHOSPH10):c.1639G>T (p.Ala547Ser)	MPHOSPH10 (A547S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201850	NM_005791.3(MPHOSPH10):c.1478A>G (p.His493Arg)	MPHOSPH10 (H493R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201836	NM_005791.3(MPHOSPH10):c.1114G>A (p.Ala372Thr)	MPHOSPH10 (A372T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201832	NM_005791.3(MPHOSPH10):c.1016C>T (p.Ala339Val)	MPHOSPH10 (A339V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062659	GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1	ACTG2, ALMS1 +60 more	Copy number loss	not specified	GLikely pathogenic
Select item 2651022	NM_005791.3(MPHOSPH10):c.1784G>A (p.Arg595Gln)	MPHOSPH10 (R595Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2617386	NM_005791.3(MPHOSPH10):c.690G>T (p.Glu230Asp)	MPHOSPH10 (E230D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544403	NM_005791.3(MPHOSPH10):c.1733G>A (p.Arg578Gln)	MPHOSPH10 (R578Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457847	NM_005791.3(MPHOSPH10):c.437C>T (p.Pro146Leu)	MPHOSPH10 (P146L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457297	NM_005791.3(MPHOSPH10):c.377A>T (p.Asp126Val)	MPHOSPH10 (D126V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456609	NM_005791.3(MPHOSPH10):c.1327C>T (p.Arg443Cys)	MPHOSPH10 (R443C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454316	NM_005791.3(MPHOSPH10):c.1328G>A (p.Arg443His)	MPHOSPH10 (R443H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427025	NC_000002.11:g.(?_69240632)_(74779761_?)dup	AAK1, ACTG2 +72 more	Duplication	not provided	GUncertain significance
Select item 2424629	NC_000002.11:g.(?_71004499)_(74779761_?)del	ACTG2, ALMS1 +55 more	Deletion	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GPathogenic
Select item 2406974	NM_005791.3(MPHOSPH10):c.1234C>T (p.Arg412Trp)	MPHOSPH10 (R412W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405804	NM_005791.3(MPHOSPH10):c.2026G>T (p.Val676Phe)	MPHOSPH10 (V676F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390518	NM_005791.3(MPHOSPH10):c.145T>C (p.Phe49Leu)	MPHOSPH10 (F49L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388976	NM_005791.3(MPHOSPH10):c.902C>T (p.Ala301Val)	MPHOSPH10 (A301V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364785	NM_005791.3(MPHOSPH10):c.673G>C (p.Asp225His)	MPHOSPH10 (D225H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357332	NM_005791.3(MPHOSPH10):c.914G>A (p.Ser305Asn)	MPHOSPH10 (S305N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2335726	NM_005791.3(MPHOSPH10):c.773G>A (p.Gly258Asp)	MPHOSPH10 (G258D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324164	NM_005791.3(MPHOSPH10):c.925A>G (p.Thr309Ala)	MPHOSPH10 (T309A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323885	NM_005791.3(MPHOSPH10):c.5C>A (p.Ala2Glu)	LOC129934061, MPHOSPH10 (A2E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309357	NM_005791.3(MPHOSPH10):c.701T>A (p.Ile234Asn)	MPHOSPH10 (I234N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301942	NM_005791.3(MPHOSPH10):c.428A>G (p.Asn143Ser)	MPHOSPH10 (N143S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263911	NM_005791.3(MPHOSPH10):c.1490A>G (p.Gln497Arg)	MPHOSPH10 (Q497R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257153	NM_005791.3(MPHOSPH10):c.167G>A (p.Gly56Asp)	MPHOSPH10 (G56D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2250546	NM_005791.3(MPHOSPH10):c.623C>G (p.Ser208Cys)	MPHOSPH10 (S208C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240108	NM_005791.3(MPHOSPH10):c.1834A>C (p.Lys612Gln)	MPHOSPH10 (K612Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220897	NM_005791.3(MPHOSPH10):c.1547T>A (p.Ile516Asn)	MPHOSPH10 (I516N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208587	NM_005791.3(MPHOSPH10):c.871A>G (p.Lys291Glu)	MPHOSPH10 (K291E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1707458	Single allele	AAK1, ADD2 +107 more	Duplication	not specified	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ACMSD, ALLC +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 784986	NM_005791.3(MPHOSPH10):c.719T>C (p.Ile240Thr)	MPHOSPH10 (I240T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 777994	NM_005791.3(MPHOSPH10):c.461A>G (p.Asn154Ser)	MPHOSPH10 (N154S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 777993	NM_005791.3(MPHOSPH10):c.122C>A (p.Ser41Tyr)	MPHOSPH10 (S41Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 775729	NM_005791.3(MPHOSPH10):c.418G>A (p.Asp140Asn)	MPHOSPH10 (D140N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 685892	GRCh37/hg19 2p13.3-13.2(chr2:71164124-71535431)x3	ANKRD53, ATP6V1B1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	CCDC85A, CCDC88A +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LINC01851, LINC01867 +2458 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +769 more	Copy number gain	See cases	GPathogenic
Select item 144474	GRCh38/hg38 2p13.3-13.2(chr2:70709155-72346899)x3	ADD2, ANKRD53 +48 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 70