P4HA1[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 58745	GRCh38/hg38 10q22.1-22.2(chr10:72720628-75612374)x1	LOC130004132, LOC130004133 +150 more	Copy number loss	See cases	GPathogenic
Select item 3031005	NM_001017962.3(P4HA1):c.1530A>G (p.Lys510=)	P4HA1	Single nucleotide variant (synonymous variant)	P4HA1-related disorder	GLikely benign
Select item 3038839	NM_001017962.3(P4HA1):c.1515G>A (p.Val505=)	P4HA1	Single nucleotide variant (synonymous variant)	P4HA1-related disorder	GLikely benign
Select item 784085	NM_001017962.3(P4HA1):c.1368+7C>T	P4HA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 617510	NM_001017962.2(P4HA1):c.1302+2T>G	P4HA1	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 3045704	NM_001017962.3(P4HA1):c.1272A>G (p.Gly424=)	P4HA1	Single nucleotide variant (synonymous variant +1 more)	P4HA1-related disorder	GLikely benign
Select item 2217228	NM_001017962.3(P4HA1):c.1177G>C (p.Val393Leu)	P4HA1 (V393L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207750	NM_001017962.3(P4HA1):c.1166A>G (p.Tyr389Cys)	P4HA1 (Y389C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041061	NM_001017962.3(P4HA1):c.1148+1062A>G	P4HA1	Single nucleotide variant (synonymous variant +1 more)	P4HA1-related disorder	GLikely benign
Select item 3024166	NM_001017962.3(P4HA1):c.1148+1030C>T	P4HA1 (R362*)	Single nucleotide variant (nonsense +1 more)	Congenital disorder of connective tissue	GLikely pathogenic
Select item 3054413	NM_001017962.3(P4HA1):c.1124C>T (p.Thr375Met)	P4HA1 (T375M)	Single nucleotide variant (missense variant +1 more)	P4HA1-related disorder	GLikely benign
Select item 617509	NM_001017962.2(P4HA1):c.1082_1083insAG (p.Lys442Argfs)	P4HA1 (R362fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3046975	NM_001017962.3(P4HA1):c.1053C>T (p.Ile351=)	P4HA1	Single nucleotide variant (synonymous variant)	P4HA1-related disorder	GLikely benign
Select item 3207749	NM_001017962.3(P4HA1):c.1000A>C (p.Lys334Gln)	P4HA1 (K334Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207754	NM_001017962.3(P4HA1):c.964A>C (p.Ile322Leu)	P4HA1 (I322L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038341	NM_001017962.3(P4HA1):c.937C>T (p.His313Tyr)	P4HA1 (H313Y)	Single nucleotide variant (missense variant)	P4HA1-related disorder	GBenign
Select item 2290280	NM_001017962.3(P4HA1):c.928T>C (p.Cys310Arg)	P4HA1 (C310R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285325	NM_001017962.3(P4HA1):c.868G>A (p.Glu290Lys)	P4HA1 (E290K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516633	NM_001017962.3(P4HA1):c.823A>G (p.Lys275Glu)	P4HA1 (K275E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207753	NM_001017962.3(P4HA1):c.781T>A (p.Ser261Thr)	P4HA1 (S261T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048457	NM_001017962.3(P4HA1):c.723T>G (p.Ala241=)	P4HA1	Single nucleotide variant (synonymous variant)	P4HA1-related disorder	GLikely benign
Select item 2595475	NM_001017962.3(P4HA1):c.706C>A (p.Pro236Thr)	P4HA1 (P236T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3029900	NM_001017962.3(P4HA1):c.668A>G (p.Lys223Arg)	P4HA1 (K223R)	Single nucleotide variant (missense variant)	P4HA1-related disorder	GUncertain significance
Select item 2292966	NM_001017962.3(P4HA1):c.635G>A (p.Ser212Asn)	P4HA1 (S212N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039512	NM_001017962.3(P4HA1):c.624A>G (p.Leu208=)	P4HA1	Single nucleotide variant (synonymous variant)	P4HA1-related disorder	GBenign
Select item 2220911	NM_001017962.3(P4HA1):c.563A>T (p.Glu188Val)	P4HA1 (E188V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381564	NM_001017962.3(P4HA1):c.548C>T (p.Thr183Met)	P4HA1 (T183M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058135	NM_001017962.3(P4HA1):c.495G>A (p.Glu165=)	P4HA1	Single nucleotide variant (synonymous variant)	P4HA1-related disorder	GLikely benign
Select item 2310551	NM_001017962.3(P4HA1):c.487A>G (p.Thr163Ala)	P4HA1 (T163A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333276	NM_001017962.3(P4HA1):c.407G>A (p.Arg136His)	P4HA1 (R136H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588740	NM_001017962.3(P4HA1):c.372T>G (p.Asp124Glu)	P4HA1 (D124E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207752	NM_001017962.3(P4HA1):c.331A>G (p.Ile111Val)	P4HA1 (I111V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207751	NM_001017962.3(P4HA1):c.331A>C (p.Ile111Leu)	P4HA1 (I111L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403036	NM_001017962.3(P4HA1):c.287G>A (p.Ser96Asn)	P4HA1 (S96N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488058	NM_001017962.3(P4HA1):c.161A>G (p.Glu54Gly)	P4HA1 (E54G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396242	NM_001017962.3(P4HA1):c.4A>T (p.Ile2Phe)	P4HA1 (I2F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063148	GRCh37/hg19 10q22.1-22.2(chr10:74472028-75019111)x3	CFAP70, DNAJC9 +8 more	Copy number gain	not specified	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	PIK3AP1, SVIL +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	RRP12, USP54 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527591	GRCh37/hg19 10q22.1-22.2(chr10:74472028-75007588)	DNAJC9, ECD +6 more	Copy number gain	not specified	GUncertain significance
Select item 1527589	GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714)	ADAMTS14, ADK +91 more	Copy number loss	not specified	GPathogenic
Select item 1341265	GRCh37/hg19 10q22.1(chr10:74573522-74852531)x3	MCU, OIT3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	BCCIP, BEND7 +722 more	Copy number gain	See cases	GPathogenic

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Items: 53