PRMT9[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 58044	GRCh38/hg38 4q31.21-31.3(chr4:140876253-152186578)x3	ABCE1, ANAPC10 +214 more	Copy number gain	See cases	GPathogenic
Select item 147312	GRCh38/hg38 4q31.21-31.23(chr4:143588844-148514027)x1	ABCE1, ANAPC10 +123 more	Copy number loss	See cases	GPathogenic
Select item 153878	GRCh38/hg38 4q31.21-31.23(chr4:144742003-148490914)x1	ABCE1, ANAPC10 +111 more	Copy number loss	See cases	GLikely pathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 153740	GRCh38/hg38 4q31.22-31.23(chr4:147172571-147792924)x3	ARHGAP10, EDNRA +19 more	Copy number gain	See cases	GUncertain significance
Select item 58045	GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3	LOC123493228, LOC123493229 +481 more	Copy number gain	See cases	GPathogenic
Select item 146056	GRCh38/hg38 4q31.22-31.23(chr4:147396786-147788662)x3	ARHGAP10, EDNRA +17 more	Copy number gain	See cases	GUncertain significance
Select item 1707449	Single allele	ARHGAP10, EDNRA +21 more	Duplication	not specified	GUncertain significance
Select item 145601	GRCh38/hg38 4q31.23(chr4:147598674-147996432)x3	ARHGAP10, LOC126807184 +15 more	Copy number gain	See cases	GLikely benign
Select item 2283152	NM_138364.4(PRMT9):c.2524A>G (p.Thr842Ala)	PRMT9 (T434A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496362	NM_138364.4(PRMT9):c.2465T>C (p.Val822Ala)	PRMT9 (V709A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264635	NM_138364.4(PRMT9):c.2419T>A (p.Ser807Thr)	PRMT9 (S399T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1704239	NM_138364.4(PRMT9):c.2405C>T (p.Thr802Ile)	PRMT9 (T394I +4 more)	Single nucleotide variant (missense variant)	Neurodevelopmental abnormality	GUncertain significance
Select item 1704238	NM_138364.4(PRMT9):c.2356dup (p.Ile786fs)	PRMT9 (I378fs +4 more)	Duplication (frameshift variant)	Neurodevelopmental abnormality	GPathogenic
Select item 1704237	NM_138364.4(PRMT9):c.2342del (p.Gly781fs)	PRMT9 (G373fs +4 more)	Deletion (frameshift variant)	Neurodevelopmental abnormality	GPathogenic
Select item 2247944	NM_138364.4(PRMT9):c.2206A>C (p.Ile736Leu)	PRMT9 (I623L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553713	NM_138364.4(PRMT9):c.2189A>G (p.Asn730Ser)	PRMT9 (N617S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362614	NM_138364.4(PRMT9):c.2155C>T (p.Arg719Cys)	PRMT9 (R363C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218961	NM_138364.4(PRMT9):c.2120C>T (p.Thr707Ile)	PRMT9 (T351I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370102	NM_138364.4(PRMT9):c.2107G>C (p.Val703Leu)	PRMT9 (V398L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1704236	NM_138364.4(PRMT9):c.1918dup (p.Val640fs)	PRMT9 (V232fs +4 more)	Duplication (frameshift variant)	Neurodevelopmental abnormality	GPathogenic
Select item 2524457	NM_138364.4(PRMT9):c.1886C>T (p.Pro629Leu)	PRMT9 (P324L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314235	NM_138364.4(PRMT9):c.1864A>T (p.Ile622Leu)	PRMT9 (I214L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218960	NM_138364.4(PRMT9):c.1847G>A (p.Arg616His)	PRMT9 (R208H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540831	NM_138364.4(PRMT9):c.1841A>G (p.Gln614Arg)	PRMT9 (Q309R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295588	NM_138364.4(PRMT9):c.1840C>G (p.Gln614Glu)	PRMT9 (Q309E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339174	NM_138364.4(PRMT9):c.1786G>C (p.Val596Leu)	PRMT9 (V240L +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2247709	NM_138364.4(PRMT9):c.1786G>A (p.Val596Ile)	PRMT9 (V596I +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2352401	NM_138364.4(PRMT9):c.1780C>G (p.Leu594Val)	PRMT9 (L481V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1704235	NM_138364.4(PRMT9):c.1772T>C (p.Phe591Ser)	PRMT9 (F183S +4 more)	Single nucleotide variant (missense variant)	Neurodevelopmental abnormality	GUncertain significance
Select item 3310260	NM_138364.4(PRMT9):c.1723G>A (p.Val575Ile)	PRMT9 (V219I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350246	NM_138364.4(PRMT9):c.1703G>A (p.Gly568Glu)	PRMT9 (G160E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377292	NM_138364.4(PRMT9):c.1631T>C (p.Val544Ala)	PRMT9 (V188A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218959	NM_138364.4(PRMT9):c.1594C>G (p.Pro532Ala)	PRMT9 (P124A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232506	NM_138364.4(PRMT9):c.1502G>A (p.Ser501Asn)	PRMT9 (S145N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310259	NM_138364.4(PRMT9):c.1493A>G (p.Glu498Gly)	PRMT9 (E142G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381437	NM_138364.4(PRMT9):c.1475C>T (p.Ser492Leu)	PRMT9 (S136L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467749	NM_138364.4(PRMT9):c.1400A>G (p.Gln467Arg)	PRMT9 (Q162R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310256	NM_138364.4(PRMT9):c.1343A>G (p.Lys448Arg)	PRMT9 (K40R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1704232	NM_138364.4(PRMT9):c.1318C>T (p.Gln440Ter)	PRMT9 (Q135* +4 more)	Single nucleotide variant (nonsense)	Neurodevelopmental abnormality	GPathogenic
Select item 2217321	NM_138364.4(PRMT9):c.1315G>A (p.Val439Ile)	PRMT9 (V439I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366831	NM_138364.4(PRMT9):c.1253A>G (p.Asp418Gly)	PRMT9 (D113G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295574	NM_138364.4(PRMT9):c.1163C>G (p.Ala388Gly)	PRMT9 (A388G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218958	NM_138364.4(PRMT9):c.1162G>A (p.Ala388Thr)	PRMT9 (A388T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310262	NM_138364.4(PRMT9):c.1144C>G (p.Gln382Glu)	PRMT9 (Q382E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1704231	NM_138364.4(PRMT9):c.1144C>A (p.Gln382Lys)	PRMT9 (Q269K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1704230	NM_138364.4(PRMT9):c.1143del (p.Gln382fs)	PRMT9 (Q269fs +3 more)	Deletion (frameshift variant +1 more)	Neurodevelopmental abnormality	GPathogenic
Select item 1704229	NM_138364.4(PRMT9):c.1075C>T (p.Arg359Ter)	PRMT9 (R246* +3 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental abnormality	GPathogenic
Select item 2530763	NM_138364.4(PRMT9):c.1045A>C (p.Ile349Leu)	PRMT9 (I236L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549423	NM_138364.4(PRMT9):c.1025C>T (p.Ser342Phe)	PRMT9 (S229F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347746	NM_138364.4(PRMT9):c.1013C>T (p.Pro338Leu)	PRMT9 (P33L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218964	NM_138364.4(PRMT9):c.995A>T (p.Asn332Ile)	PRMT9 (N332I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604519	NM_138364.4(PRMT9):c.950A>G (p.His317Arg)	PRMT9 (H317R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318415	NM_138364.4(PRMT9):c.869G>A (p.Cys290Tyr)	PRMT9 (C177Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310261	NM_138364.4(PRMT9):c.848C>A (p.Thr283Asn)	PRMT9 (T283N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495054	NM_138364.4(PRMT9):c.841C>T (p.Pro281Ser)	PRMT9 (P168S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1704227	NM_138364.4(PRMT9):c.836del (p.Leu279fs)	PRMT9 (L166fs +1 more)	Deletion (frameshift variant +2 more)	Neurodevelopmental abnormality	GPathogenic
Select item 281602	NM_138364.4(PRMT9):c.773A>T (p.Asp258Val)	PRMT9 (D258V +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental abnormality +1 more	GConflicting classifications of pathogenicity
Select item 3065321	NM_138364.4(PRMT9):c.712G>C (p.Asp238His)	PRMT9 (D125H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3025125	NM_138364.4(PRMT9):c.702G>A (p.Thr234=)	PRMT9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2315995	NM_138364.4(PRMT9):c.695T>C (p.Leu232Ser)	PRMT9 (L119S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218963	NM_138364.4(PRMT9):c.607G>A (p.Val203Met)	PRMT9 (V203M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2689828	NM_138364.4(PRMT9):c.576-1G>A	PRMT9	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1704226	NM_138364.4(PRMT9):c.576-2A>G	PRMT9	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental abnormality	GPathogenic
Select item 1704225	NM_138364.4(PRMT9):c.565G>A (p.Gly189Arg)	PRMT9 (G189R +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Neurodevelopmental abnormality	GPathogenic
Select item 1704246	NM_138364.4(PRMT9):c.554G>A (p.Gly185Glu)	PRMT9 (G185E +1 more)	Single nucleotide variant (missense variant +2 more)	Neurodevelopmental abnormality	GPathogenic
Select item 1704245	NM_138364.4(PRMT9):c.545del (p.Leu182fs)	PRMT9 (L182fs +1 more)	Deletion (frameshift variant +2 more)	Neurodevelopmental abnormality	GPathogenic
Select item 2288949	NM_138364.4(PRMT9):c.536A>G (p.Lys179Arg)	PRMT9 (K179R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 1704244	NM_138364.4(PRMT9):c.491del (p.Thr164fs)	PRMT9 (T164fs +1 more)	Deletion (frameshift variant +2 more)	Neurodevelopmental abnormality	GPathogenic
Select item 2554308	NM_138364.4(PRMT9):c.415G>A (p.Glu139Lys)	PRMT9 (E139K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1704243	NM_138364.4(PRMT9):c.415G>T (p.Glu139Ter)	PRMT9 (E139* +1 more)	Single nucleotide variant (nonsense +2 more)	Neurodevelopmental abnormality	GPathogenic
Select item 2385388	NM_138364.4(PRMT9):c.353A>C (p.Asp118Ala)	PRMT9 (D5A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1704242	NM_138364.4(PRMT9):c.270T>G (p.Tyr90Ter)	PRMT9 (Y90*)	Single nucleotide variant (5 prime UTR variant +2 more)	Neurodevelopmental abnormality	GPathogenic
Select item 1704241	NM_138364.4(PRMT9):c.258_261del (p.Leu87fs)	PRMT9 (L87fs)	Microsatellite (5 prime UTR variant +2 more)	Neurodevelopmental abnormality	GPathogenic
Select item 1704240	NM_138364.4(PRMT9):c.257T>A (p.Leu86Ter)	PRMT9 (L86*)	Single nucleotide variant (5 prime UTR variant +2 more)	Neurodevelopmental abnormality	GPathogenic
Select item 1704234	NM_138364.4(PRMT9):c.219G>A (p.Trp73Ter)	PRMT9 (W73*)	Single nucleotide variant (5 prime UTR variant +2 more)	Neurodevelopmental abnormality	GPathogenic
Select item 2521615	NM_138364.4(PRMT9):c.211T>C (p.Phe71Leu)	PRMT9 (F71L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3310258	NM_138364.4(PRMT9):c.200A>G (p.Gln67Arg)	PRMT9 (Q67R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1704224	NM_138364.4(PRMT9):c.106_107del (p.Leu36fs)	PRMT9 (L36fs)	Deletion (5 prime UTR variant +1 more)	Neurodevelopmental abnormality	GPathogenic
Select item 3310257	NM_138364.4(PRMT9):c.104G>C (p.Cys35Ser)	PRMT9 (C35S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2317219	NM_138364.4(PRMT9):c.90G>C (p.Gln30His)	PRMT9 (Q30H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2589273	NM_138364.4(PRMT9):c.61C>T (p.Arg21Trp)	PRMT9 (R21W)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2592177	NM_138364.4(PRMT9):c.52G>A (p.Ala18Thr)	PRMT9 (A18T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3218962	NM_138364.4(PRMT9):c.46G>C (p.Ala16Pro)	PRMT9 (A16P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062798	GRCh37/hg19 4q31.22-31.23(chr4:148012359-149767130)x3	ARHGAP10, EDNRA +3 more	Copy number gain	not specified	GUncertain significance
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685993	GRCh37/hg19 4q31.22-31.23(chr4:148093724-148665652)x3	ARHGAP10, EDNRA +2 more	Copy number gain	not provided	GUncertain significance
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	SPOCK3, SPRY1 +153 more	Copy number gain	not provided	GPathogenic
Select item 1704233	NC_000004.11:g.148550590_148578202dup	TMEM184C, PRMT9	Duplication	Neurodevelopmental abnormality	GUncertain significance
Select item 1527129	GRCh37/hg19 4q31.22-31.23(chr4:148378902-148750802)	ARHGAP10, EDNRA +2 more	Copy number gain	not specified	GUncertain significance
Select item 1527128	GRCh37/hg19 4q31.22-31.23(chr4:148011767-148800454)	ARHGAP10, EDNRA +2 more	Copy number gain	not specified	GUncertain significance
Select item 1455428	NC_000004.11:g.(?_146560292)_(149358012_?)del	ARHGAP10, C4orf51 +10 more	Deletion	Methylmalonic aciduria, cblA type	GPathogenic

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