PRMT3[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145597	GRCh38/hg38 11p15.1(chr11:18526222-20748125)x3	CSRP3, CSRP3-AS1 +83 more	Copy number gain	See cases	GUncertain significance
Select item 154432	GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1	ABTB2, ANO3 +283 more	Copy number loss	See cases	GPathogenic
Select item 154490	GRCh38/hg38 11p15.1(chr11:20375594-20634327)x1	HTATIP2, LOC124421507 +8 more	Copy number loss	See cases	GUncertain significance
Select item 2469070	NM_005788.4(PRMT3):c.38G>A (p.Gly13Asp)	PRMT3 (G13D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2371006	NM_005788.4(PRMT3):c.81C>A (p.Ser27Arg)	PRMT3 (S27R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2214238	NM_005788.4(PRMT3):c.449A>G (p.Asn150Ser)	PRMT3 (N150S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568784	NM_005788.4(PRMT3):c.538C>T (p.Arg180Cys)	PRMT3 (R103C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516183	NM_005788.4(PRMT3):c.539G>A (p.Arg180His)	PRMT3 (R118H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257010	NM_005788.4(PRMT3):c.589A>C (p.Thr197Pro)	PRMT3 (T120P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 738329	NM_005788.4(PRMT3):c.629C>T (p.Ala210Val)	PRMT3 (A210V +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2268548	NM_005788.4(PRMT3):c.685A>T (p.Ile229Leu)	PRMT3 (I152L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276273	NM_005788.4(PRMT3):c.731G>A (p.Arg244Gln)	PRMT3 (R167Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534978	NM_005788.4(PRMT3):c.755A>G (p.His252Arg)	PRMT3 (H252R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352420	NM_005788.4(PRMT3):c.760T>C (p.Phe254Leu)	PRMT3 (F177L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242620	NM_005788.4(PRMT3):c.901A>G (p.Lys301Glu)	PRMT3 (K224E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298191	NM_005788.4(PRMT3):c.1020G>A (p.Met340Ile)	PRMT3 (M278I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623545	NM_005788.4(PRMT3):c.1028C>T (p.Ser343Phe)	PRMT3 (S281F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481725	NM_005788.4(PRMT3):c.1132G>A (p.Asp378Asn)	PRMT3 (D301N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482771	NM_005788.4(PRMT3):c.1373A>G (p.Tyr458Cys)	PRMT3 (Y458C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229106	NM_005788.4(PRMT3):c.1405T>C (p.Phe469Leu)	PRMT3 (F392L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550385	NM_005788.4(PRMT3):c.1450G>C (p.Val484Leu)	PRMT3 (V484L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568773	NM_005788.4(PRMT3):c.1468C>A (p.Pro490Thr)	PRMT3 (P490T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473861	NM_005788.4(PRMT3):c.1474T>G (p.Ser492Ala)	PRMT3 (S415A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 152836	GRCh38/hg38 11p15.1(chr11:20497522-20655482)x3	LOC124421507, LOC132089912 +4 more	Copy number gain	See cases	GUncertain significance
Select item 1808953	GRCh37/hg19 11p15.1(chr11:20191503-20412738)x1	HTATIP2, PRMT3	Copy number loss	not provided	GUncertain significance
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	ABCC8, ADM +308 more	Copy number gain	See cases	GPathogenic
Select item 997825	Single allele	APOA1, APOA4 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815415	GRCh37/hg19 11p15.1(chr11:20490837-20879157)x3	PRMT3, NELL1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 815411	GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3	MYOD1, NAV2 +67 more	Copy number gain	not provided	GPathogenic
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	GALNT18, SAA1 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	ABCC8, ADM +343 more	Copy number gain	not provided	GPathogenic
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	ABCC8, ADM +327 more	Copy number gain	See cases	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
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ABCC8, ADM +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ABCC8, ABTB2 +364 more	Copy number gain	See cases	GPathogenic
Select item 376757	GRCh37/hg19 11p15.1-13(chr11:18536224-31923308)x1	DCDC1, DNAJC24 +44 more	Copy number loss	Aniridia 1	GPathogenic

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Items: 37