ClinVar for Gene (Select 51449) - ClinVar

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Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3305280	NM_016297.4(PCYOX1):c.1388C>T (p.Ala463Val)	PCYOX1 (A463V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305279	NM_016297.4(PCYOX1):c.79G>C (p.Gly27Arg)	PCYOX1 (G27R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305278	NM_016297.4(PCYOX1):c.875T>C (p.Met292Thr)	PCYOX1 (M292T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305277	NM_016297.4(PCYOX1):c.910C>T (p.Arg304Cys)	PCYOX1 (R304C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305276	NM_016297.4(PCYOX1):c.781C>T (p.Leu261Phe)	PCYOX1 (L261F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210496	NM_016297.4(PCYOX1):c.785T>A (p.Leu262Gln)	PCYOX1 (L262Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210495	NM_016297.4(PCYOX1):c.32C>T (p.Ser11Leu)	PCYOX1 (S11L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210494	NM_016297.4(PCYOX1):c.237G>T (p.Met79Ile)	PCYOX1 (M79I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210493	NM_016297.4(PCYOX1):c.1463A>G (p.His488Arg)	PCYOX1 (H488R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210492	NM_016297.4(PCYOX1):c.1399A>G (p.Met467Val)	PCYOX1 (M467V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210491	NM_016297.4(PCYOX1):c.1195A>G (p.Thr399Ala)	PCYOX1 (T399A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210490	NM_016297.4(PCYOX1):c.1074C>G (p.Ser358Arg)	PCYOX1 (S358R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062658	GRCh37/hg19 2p14-13.3(chr2:67702012-70506257)x1	AAK1, ANTXR1 +24 more	Copy number loss	not specified	GUncertain significance
Select item 2622884	NM_016297.4(PCYOX1):c.1252A>T (p.Ile418Phe)	PCYOX1 (I418F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597985	NM_016297.4(PCYOX1):c.430C>T (p.Arg144Cys)	PCYOX1 (R144C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559632	NM_016297.4(PCYOX1):c.1070T>G (p.Phe357Cys)	PCYOX1 (F357C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514679	NM_016297.4(PCYOX1):c.956G>A (p.Arg319Gln)	PCYOX1 (R319Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498868	GRCh37/hg19 2p14-13.3(chr2:65296579-71305638)x1	AAK1, ACTR2 +43 more	Copy number loss	not provided	GUncertain significance
Select item 2471552	NM_016297.4(PCYOX1):c.151T>C (p.Tyr51His)	PCYOX1 (Y51H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462513	NM_016297.4(PCYOX1):c.538G>A (p.Glu180Lys)	PCYOX1 (E180K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459219	NM_016297.4(PCYOX1):c.1445A>G (p.Tyr482Cys)	PCYOX1 (Y482C)	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 2387125	NM_016297.4(PCYOX1):c.566A>G (p.Asp189Gly)	PCYOX1 (D189G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380472	NM_016297.4(PCYOX1):c.55C>G (p.Leu19Val)	PCYOX1 (L19V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361280	NM_016297.4(PCYOX1):c.1385G>T (p.Cys462Phe)	PCYOX1 (C462F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2360859	NM_016297.4(PCYOX1):c.761A>T (p.Asn254Ile)	PCYOX1 (N254I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310040	NM_016297.4(PCYOX1):c.281C>T (p.Pro94Leu)	PCYOX1 (P94L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294904	NM_016297.4(PCYOX1):c.923A>G (p.Tyr308Cys)	PCYOX1 (Y308C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278028	NM_016297.4(PCYOX1):c.289C>G (p.Leu97Val)	PCYOX1 (L97V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248019	NM_016297.4(PCYOX1):c.95C>G (p.Ala32Gly)	PCYOX1 (A32G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246769	NM_016297.4(PCYOX1):c.451C>T (p.Arg151Cys)	PCYOX1 (R151C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230338	NM_016297.4(PCYOX1):c.686C>T (p.Thr229Met)	PCYOX1 (T229M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2221236	NM_016297.4(PCYOX1):c.17C>T (p.Ala6Val)	PCYOX1 (A6V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 772846	NM_016297.4(PCYOX1):c.1393A>G (p.Ser465Gly)	PCYOX1 (S465G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 562571	GRCh37/hg19 2p13.3(chr2:70338896-70664385)x3	FAM136A, PCYOX1 +3 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)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 44