XPOT[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

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	FERRY3, FGD4 +4837 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	BEST3, C12orf56 +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 43