PRMT6[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146007	GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1	AGL, AKNAD1 +195 more	Copy number loss	See cases	GPathogenic
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +333 more	Copy number loss	See cases	GPathogenic
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 545138	NC_000001.11:g.(?_103175204)_(111410059_?)del	AHCYL1, AKNAD1 +242 more	Deletion	Autism	GLikely pathogenic
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 154693	GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1	ADORA3, AHCYL1 +274 more	Copy number loss	See cases	GPathogenic
Select item 60009	GRCh38/hg38 1p21.1-13.3(chr1:106074587-110144290)x1	AHCYL1, AKNAD1 +148 more	Copy number loss	See cases	GPathogenic
Select item 57788	GRCh38/hg38 1p13.3(chr1:107042518-107326708)x3	LOC126805818, LOC129931063 +7 more	Copy number gain	See cases	GUncertain significance
Select item 3035402	NM_018137.3(PRMT6):c.-8C>T	PRMT6	Single nucleotide variant (5 prime UTR variant)	PRMT6-related disorder	GLikely benign
Select item 2401635	NM_018137.3(PRMT6):c.14A>G (p.Lys5Arg)	PRMT6 (K5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042273	NM_018137.3(PRMT6):c.25C>G (p.Leu9Val)	PRMT6 (L9V)	Single nucleotide variant (missense variant)	PRMT6-related disorder	GLikely benign
Select item 3218937	NM_018137.3(PRMT6):c.34G>T (p.Gly12Trp)	PRMT6 (G12W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287943	NM_018137.3(PRMT6):c.34G>C (p.Gly12Arg)	PRMT6 (G12R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046267	NM_018137.3(PRMT6):c.36G>C (p.Gly12=)	PRMT6	Single nucleotide variant (synonymous variant)	PRMT6-related disorder	GLikely benign
Select item 3218935	NM_018137.3(PRMT6):c.109C>G (p.Arg37Gly)	PRMT6 (R37G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218936	NM_018137.3(PRMT6):c.160G>T (p.Val54Phe)	PRMT6 (V54F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351143	NM_018137.3(PRMT6):c.316C>T (p.Arg106Trp)	LOC129931064, PRMT6 (R106W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289461	NM_018137.3(PRMT6):c.349T>A (p.Trp117Arg)	LOC129931064, PRMT6 (W117R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218938	NM_018137.3(PRMT6):c.395G>A (p.Arg132Gln)	LOC129931064, PRMT6 (R132Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218939	NM_018137.3(PRMT6):c.410C>T (p.Pro137Leu)	PRMT6 (P137L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300464	NM_018137.3(PRMT6):c.450T>A (p.Asp150Glu)	LOC129931065, PRMT6 (D150E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333926	NM_018137.3(PRMT6):c.503G>A (p.Ser168Asn)	LOC129931065, PRMT6 (S168N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310249	NM_018137.3(PRMT6):c.536A>G (p.Lys179Arg)	LOC129931065, PRMT6 (K179R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357279	NM_018137.3(PRMT6):c.574T>C (p.Phe192Leu)	LOC129931066, PRMT6 (F192L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060084	NM_018137.3(PRMT6):c.581C>T (p.Ala194Val)	LOC129931066, PRMT6 (A194V)	Single nucleotide variant (missense variant)	PRMT6-related disorder	GBenign
Select item 2323839	NM_018137.3(PRMT6):c.597G>C (p.Gln199His)	LOC129931066, PRMT6 (Q199H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218940	NM_018137.3(PRMT6):c.631G>C (p.Val211Leu)	LOC129931066, PRMT6 (V211L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225889	NM_018137.3(PRMT6):c.688C>T (p.Leu230Phe)	LOC129931066, PRMT6 (L230F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384238	NM_018137.3(PRMT6):c.730G>A (p.Glu244Lys)	LOC129931066, PRMT6 (E244K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218941	NM_018137.3(PRMT6):c.761C>G (p.Ala254Gly)	PRMT6 (A254G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218942	NM_018137.3(PRMT6):c.781G>C (p.Ala261Pro)	PRMT6 (A261P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458536	NM_018137.3(PRMT6):c.788T>C (p.Leu263Ser)	PRMT6 (L263S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309080	NM_018137.3(PRMT6):c.818G>T (p.Gly273Val)	PRMT6 (G273V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218943	NM_018137.3(PRMT6):c.853A>C (p.Met285Leu)	PRMT6 (M285L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2528418	NM_018137.3(PRMT6):c.853A>G (p.Met285Val)	PRMT6 (M285V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218944	NM_018137.3(PRMT6):c.858T>G (p.His286Gln)	PRMT6 (H286Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559599	NM_018137.3(PRMT6):c.892G>A (p.Gly298Arg)	PRMT6 (G298R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220912	NM_018137.3(PRMT6):c.892G>C (p.Gly298Arg)	PRMT6 (G298R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218945	NM_018137.3(PRMT6):c.893G>A (p.Gly298Glu)	PRMT6 (G298E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041430	NM_018137.3(PRMT6):c.942G>A (p.Pro314=)	PRMT6	Single nucleotide variant (synonymous variant)	PRMT6-related disorder	GBenign
Select item 3218946	NM_018137.3(PRMT6):c.943G>T (p.Ala315Ser)	PRMT6 (A315S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594730	NM_018137.3(PRMT6):c.979G>A (p.Glu327Lys)	PRMT6 (E327K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218934	NM_018137.3(PRMT6):c.1039C>T (p.Arg347Trp)	PRMT6 (R347W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218933	NM_018137.3(PRMT6):c.1039C>G (p.Arg347Gly)	PRMT6 (R347G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809275	GRCh37/hg19 1p13.3(chr1:107560292-107875033)x3	NTNG1, PRMT6	Copy number gain	not provided	GUncertain significance
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1340244	GRCh37/hg19 1p13.3(chr1:107560291-107875064)x3	NTNG1, PRMT6	Copy number gain	not provided	GLikely benign
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 242844	GRCh37/hg19 1p13.3(chr1:107538505-108235719)x3	VAV3, PRMT6 +1 more	Copy number gain	See cases	GUncertain significance

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Items: 52