XPOT[gene] - ClinVar

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Items: 43

	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 150076	GRCh38/hg38 12q14.1-14.3(chr12:60907151-66568077)x1	AVPR1A, C12orf56 +144 more	Copy number loss	See cases	GPathogenic
Select item 3235055	GRCh38/hg38 12q14.2-15(chr12:63871239-67314524)	LOC124629394, LOC124629395 +108 more	Copy number loss	Silver-Russell syndrome 5	GUncertain significance
Select item 2254803	NM_007235.6(XPOT):c.122C>G (p.Ala41Gly)	XPOT (A41G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333505	NM_007235.6(XPOT):c.133A>G (p.Arg45Gly)	XPOT (R45G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340248	NM_007235.6(XPOT):c.465T>G (p.Asp155Glu)	XPOT (D155E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613120	NM_007235.6(XPOT):c.466C>T (p.Arg156Cys)	XPOT (R156C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618448	NM_007235.6(XPOT):c.656C>T (p.Ser219Phe)	XPOT (S219F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338566	NM_007235.6(XPOT):c.682A>C (p.Asn228His)	XPOT (N228H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333504	NM_007235.6(XPOT):c.685A>G (p.Met229Val)	XPOT (M229V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191275	NM_007235.6(XPOT):c.836T>C (p.Ile279Thr)	XPOT (I279T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523308	NM_007235.6(XPOT):c.854T>G (p.Val285Gly)	XPOT (V285G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602833	NM_007235.6(XPOT):c.920G>A (p.Ser307Asn)	XPOT (S307N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508005	NM_007235.6(XPOT):c.1066C>T (p.His356Tyr)	XPOT (H356Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235739	NM_007235.6(XPOT):c.1273G>A (p.Ala425Thr)	XPOT (A425T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3333503	NM_007235.6(XPOT):c.1283G>A (p.Arg428His)	XPOT (R428H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333510	NM_007235.6(XPOT):c.1288G>A (p.Val430Ile)	XPOT (V430I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298930	NM_007235.6(XPOT):c.1316A>G (p.Gln439Arg)	XPOT (Q439R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191270	NM_007235.6(XPOT):c.1427G>A (p.Ser476Asn)	XPOT (S476N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191271	NM_007235.6(XPOT):c.1510G>A (p.Glu504Lys)	XPOT (E504K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532268	NM_007235.6(XPOT):c.1601G>A (p.Arg534Gln)	XPOT (R534Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348334	NM_007235.6(XPOT):c.1678A>T (p.Asn560Tyr)	XPOT (N560Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191272	NM_007235.6(XPOT):c.1738G>C (p.Glu580Gln)	XPOT (E580Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398463	NM_007235.6(XPOT):c.1810G>A (p.Val604Ile)	XPOT (V604I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333506	NM_007235.6(XPOT):c.1874T>C (p.Met625Thr)	XPOT (M625T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191273	NM_007235.6(XPOT):c.1894T>G (p.Leu632Val)	XPOT (L632V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333501	NM_007235.6(XPOT):c.1919A>G (p.Asp640Gly)	XPOT (D640G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404332	NM_007235.6(XPOT):c.1945G>A (p.Asp649Asn)	XPOT (D649N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333502	NM_007235.6(XPOT):c.2032G>A (p.Glu678Lys)	XPOT (E678K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333509	NM_007235.6(XPOT):c.2093A>G (p.Asp698Gly)	XPOT (D698G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333511	NM_007235.6(XPOT):c.2265A>G (p.Ile755Met)	XPOT (I755M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289705	NM_007235.6(XPOT):c.2296A>G (p.Met766Val)	XPOT (M766V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369975	NM_007235.6(XPOT):c.2299C>G (p.Pro767Ala)	XPOT (P767A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362986	NM_007235.6(XPOT):c.2362G>A (p.Ala788Thr)	XPOT (A788T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511936	NM_007235.6(XPOT):c.2503G>C (p.Glu835Gln)	XPOT (E835Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191274	NM_007235.6(XPOT):c.2505A>C (p.Glu835Asp)	XPOT (E835D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244245	NC_000012.11:g.(?_64173741)_(68052493_?)del	DYRK2, GNS +18 more	Deletion	Mucopolysaccharidosis, MPS-III-D	GPathogenic
Select item 2685437	GRCh37/hg19 12q14.1-15(chr12:61755618-70035424)x1	AVPR1A, C12orf56 +40 more	Copy number loss	not provided	GPathogenic
Select item 1879249	GRCh37/hg19 12q14.2-15(chr12:64609458-70352103)x1	NUP107, RAB3IP +34 more	Copy number loss	not provided	GPathogenic
Select item 832933	NC_000012.12:g.(?_63779951)_(64501391_?)dup	C12orf56, KICS2 +4 more	Duplication	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 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 43