ClinVar for Gene (Select 283208) - ClinVar

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Links from Gene

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3303836	NM_182904.5(P4HA3):c.881A>G (p.His294Arg)	P4HA3 (H294R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303835	NM_182904.5(P4HA3):c.908G>C (p.Gly303Ala)	P4HA3 (G303A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303834	NM_182904.5(P4HA3):c.1430C>T (p.Ala477Val)	P4HA3 (A477V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303833	NM_182904.5(P4HA3):c.1516A>G (p.Ser506Gly)	P4HA3 (S506G)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3207767	NM_182904.5(P4HA3):c.971A>G (p.Tyr324Cys)	P4HA3 (Y324C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207766	NM_182904.5(P4HA3):c.830G>A (p.Ser277Asn)	P4HA3 (S277N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207765	NM_182904.5(P4HA3):c.752G>A (p.Arg251Gln)	P4HA3 (R251Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207764	NM_182904.5(P4HA3):c.692A>G (p.Asp231Gly)	P4HA3 (D231G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207763	NM_182904.5(P4HA3):c.436G>A (p.Val146Met)	P4HA3 (V146M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207762	NM_182904.5(P4HA3):c.1108T>C (p.Trp370Arg)	P4HA3 (W370R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207761	NM_182904.5(P4HA3):c.1099G>T (p.Ala367Ser)	P4HA3 (A367S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685411	GRCh37/hg19 11q13.4(chr11:72308632-74236530)x1	ARAP1, ARAP1-AS2 +25 more	Copy number loss	not provided	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2642147	NM_182904.5(P4HA3):c.1513G>C (p.Asp505His)	P4HA3 (D505H)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2624073	NM_182904.5(P4HA3):c.523C>T (p.Arg175Trp)	P4HA3 (R175W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614156	NM_182904.5(P4HA3):c.965G>A (p.Cys322Tyr)	P4HA3 (C322Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614155	NM_182904.5(P4HA3):c.457G>C (p.Gly153Arg)	P4HA3 (G153R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613482	NM_182904.5(P4HA3):c.1129G>A (p.Ala377Thr)	P4HA3 (A377T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594643	NM_182904.5(P4HA3):c.241A>G (p.Thr81Ala)	P4HA3 (T81A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593729	NM_182904.5(P4HA3):c.44C>T (p.Ala15Val)	P4HA3, P4HA3-AS1 (A15V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559103	NM_182904.5(P4HA3):c.736G>T (p.Ala246Ser)	P4HA3 (A246S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539780	NM_182904.5(P4HA3):c.1541C>G (p.Pro514Arg)	P4HA3 (L512V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524576	NM_182904.5(P4HA3):c.179C>G (p.Ala60Gly)	P4HA3, P4HA3-AS1 (A60G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2520932	NM_182904.5(P4HA3):c.715C>T (p.Arg239Trp)	P4HA3 (R239W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514667	NM_016147.3(PPME1):c.1091C>G (p.Ala364Gly)	P4HA3, PPME1 (A378G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487100	NM_182904.5(P4HA3):c.1049T>G (p.Leu350Arg)	P4HA3 (L350R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476095	NM_182904.5(P4HA3):c.701C>A (p.Ala234Asp)	P4HA3 (A234D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2426953	NC_000011.9:g.(?_71146421)_(75283128_?)dup	ANAPC15, ARAP1 +63 more	Duplication	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2410611	NM_182904.5(P4HA3):c.98C>T (p.Ala33Val)	P4HA3, P4HA3-AS1 (A33V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401990	NM_182904.5(P4HA3):c.934C>T (p.Pro312Ser)	P4HA3 (P312S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381337	NM_182904.5(P4HA3):c.878C>T (p.Pro293Leu)	P4HA3 (P293L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358164	NM_016147.3(PPME1):c.1144G>A (p.Val382Met)	P4HA3, PPME1 (V382M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292873	NM_182904.5(P4HA3):c.783G>C (p.Lys261Asn)	P4HA3 (K261N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280745	NM_182904.5(P4HA3):c.167G>T (p.Arg56Leu)	P4HA3, P4HA3-AS1 (R56L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2274357	NM_016147.3(PPME1):c.1150C>T (p.Pro384Ser)	P4HA3, PPME1 (P384S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255450	NM_182904.5(P4HA3):c.1583A>G (p.His528Arg)	P4HA3 (H528R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244772	NM_182904.5(P4HA3):c.983C>A (p.Ser328Tyr)	P4HA3 (S328Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224388	NM_182904.5(P4HA3):c.206A>G (p.Tyr69Cys)	P4HA3 (Y69C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212818	NM_182904.5(P4HA3):c.1063G>A (p.Val355Ile)	P4HA3 (V355I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212109	NM_182904.5(P4HA3):c.635G>A (p.Arg212Gln)	P4HA3 (R212Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211213	NM_182904.5(P4HA3):c.751C>T (p.Arg251Trp)	P4HA3 (R251W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 48