P4HA3[gene] - ClinVar

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

Search results

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	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 2514667	NM_016147.3(PPME1):c.1091C>G (p.Ala364Gly)	P4HA3, PPME1 (A378G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358164	NM_016147.3(PPME1):c.1144G>A (p.Val382Met)	P4HA3, PPME1 (V382M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274357	NM_016147.3(PPME1):c.1150C>T (p.Pro384Ser)	PPME1, P4HA3 (P384S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
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 2613482	NM_182904.5(P4HA3):c.1129G>A (p.Ala377Thr)	P4HA3 (A377T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2212818	NM_182904.5(P4HA3):c.1063G>A (p.Val355Ile)	P4HA3 (V355I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2487100	NM_182904.5(P4HA3):c.1049T>G (p.Leu350Arg)	P4HA3 (L350R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2244772	NM_182904.5(P4HA3):c.983C>A (p.Ser328Tyr)	P4HA3 (S328Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2614156	NM_182904.5(P4HA3):c.965G>A (p.Cys322Tyr)	P4HA3 (C322Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2401990	NM_182904.5(P4HA3):c.934C>T (p.Pro312Ser)	P4HA3 (P312S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2381337	NM_182904.5(P4HA3):c.878C>T (p.Pro293Leu)	P4HA3 (P293L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2292873	NM_182904.5(P4HA3):c.783G>C (p.Lys261Asn)	P4HA3 (K261N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2211213	NM_182904.5(P4HA3):c.751C>T (p.Arg251Trp)	P4HA3 (R251W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2559103	NM_182904.5(P4HA3):c.736G>T (p.Ala246Ser)	P4HA3 (A246S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2520932	NM_182904.5(P4HA3):c.715C>T (p.Arg239Trp)	P4HA3 (R239W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2476095	NM_182904.5(P4HA3):c.701C>A (p.Ala234Asp)	P4HA3 (A234D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2212109	NM_182904.5(P4HA3):c.635G>A (p.Arg212Gln)	P4HA3 (R212Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2624073	NM_182904.5(P4HA3):c.523C>T (p.Arg175Trp)	P4HA3 (R175W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2614155	NM_182904.5(P4HA3):c.457G>C (p.Gly153Arg)	P4HA3 (G153R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2594643	NM_182904.5(P4HA3):c.241A>G (p.Thr81Ala)	P4HA3 (T81A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2224388	NM_182904.5(P4HA3):c.206A>G (p.Tyr69Cys)	P4HA3 (Y69C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 2426953	NC_000011.9:g.(?_71146421)_(75283128_?)dup	ANAPC15, ARAP1 +63 more	Duplication	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	APOA1, APOA4 +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)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 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: 37