ClinVar for Gene (Select 10988) - ClinVar

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Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3294399	NM_006838.4(METAP2):c.7G>A (p.Gly3Ser)	LOC130008480, METAP2 (G3S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125413	NM_006838.4(METAP2):c.340G>T (p.Asp114Tyr)	METAP2 (D114Y +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3125412	NM_006838.4(METAP2):c.318G>T (p.Lys106Asn)	METAP2 (K105N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3125411	NM_006838.4(METAP2):c.148G>T (p.Ala50Ser)	LOC130008480, METAP2 (A50S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125410	NM_006838.4(METAP2):c.1286T>C (p.Leu429Ser)	METAP2 (L406S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125409	NM_006838.4(METAP2):c.1220A>G (p.Asn407Ser)	METAP2 (N384S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549313	NM_006838.4(METAP2):c.1265G>A (p.Arg422His)	METAP2 (R422H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547760	NM_006838.4(METAP2):c.355C>T (p.Pro119Ser)	METAP2 (P119S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2483085	NM_006838.4(METAP2):c.245A>T (p.Asp82Val)	METAP2 (D82V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409117	NM_006838.4(METAP2):c.449C>T (p.Thr150Ile)	METAP2 (T149I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296214	NM_006838.4(METAP2):c.122A>G (p.Lys41Arg)	LOC130008480, METAP2 (K41R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260466	NM_006838.4(METAP2):c.152C>G (p.Ala51Gly)	METAP2 (A51G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2227517	NM_006838.4(METAP2):c.853A>G (p.Asn285Asp)	METAP2 (N285D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223091	NM_006838.4(METAP2):c.431G>A (p.Arg144Gln)	METAP2 (R121Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213497	NM_006838.4(METAP2):c.1426G>A (p.Asp476Asn)	METAP2 (D453N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208512	NM_006838.4(METAP2):c.1348A>G (p.Ile450Val)	METAP2 (I427V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 21