PRMT5[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	ABHD4, ACIN1 +399 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 152232	GRCh38/hg38 14q11.2(chr14:21010790-22951814)x3	ABHD4, ARHGEF40 +242 more	Copy number gain	See cases	GUncertain significance
Select item 2336845	NM_006109.5(PRMT5):c.1828A>C (p.Lys610Gln)	PRMT5, PRMT5-AS1 (K504Q +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2387707	NM_006109.5(PRMT5):c.1823C>T (p.Ser608Phe)	PRMT5, PRMT5-AS1 (S564F +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2494735	NM_006109.5(PRMT5):c.1654G>T (p.Ala552Ser)	PRMT5, PRMT5-AS1 (A381S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025242	NM_006109.5(PRMT5):c.1585A>G (p.Met529Val)	PRMT5, PRMT5-AS1 (M358V +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2672555	NM_006109.5(PRMT5):c.1579+6T>G	PRMT5, PRMT5-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2380411	NM_006109.5(PRMT5):c.1475G>A (p.Arg492His)	PRMT5, PRMT5-AS1 (R431H +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2338245	NM_006109.5(PRMT5):c.1130G>A (p.Arg377Gln)	PRMT5 (R271Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310248	NM_006109.5(PRMT5):c.1041C>G (p.Asp347Glu)	PRMT5 (D241E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672556	NM_006109.5(PRMT5):c.940-5A>G	PRMT5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2387337	NM_006109.5(PRMT5):c.659G>A (p.Arg220His)	LOC126861892, PRMT5 (R203H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600780	NM_006109.5(PRMT5):c.640T>C (p.Ser214Pro)	LOC126861892, PRMT5 (S214P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218932	NM_006109.5(PRMT5):c.608C>T (p.Ala203Val)	LOC126861892, PRMT5 (A159V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204048	NM_006109.5(PRMT5):c.529G>C (p.Glu177Gln)	LOC126861892, PRMT5 (E116Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2510718	NM_006109.5(PRMT5):c.439C>T (p.His147Tyr)	PRMT5 (H103Y +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 782582	NM_006109.5(PRMT5):c.429C>T (p.His143=)	PRMT5	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 790682	NM_006109.5(PRMT5):c.375C>T (p.Pro125=)	PRMT5	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2256517	NM_006109.5(PRMT5):c.341G>T (p.Gly114Val)	PRMT5 (G97V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218931	NM_006109.5(PRMT5):c.296T>C (p.Ile99Thr)	PRMT5 (I99T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 782583	NM_006109.5(PRMT5):c.241C>T (p.Leu81=)	PRMT5	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2262726	NM_006109.5(PRMT5):c.185G>C (p.Arg62Pro)	PRMT5 (R62P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310247	NM_006109.5(PRMT5):c.28G>A (p.Gly10Ser)	PRMT5 (G10S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3218930	NM_006109.5(PRMT5):c.26C>G (p.Ala9Gly)	PRMT5 (A9G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2239310	NM_006109.5(PRMT5):c.20G>A (p.Gly7Glu)	PRMT5 (G7E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2423736	NC_000014.8:g.(?_23242819)_(25103366_?)dup	MRPL52, MYH6 +77 more	Duplication	Lysinuric protein intolerance +1 more	GUncertain significance
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 1326312	GRCh37/hg19 14q11.2(chr14:20925965-23649548)x3	PRMT5, PSMB11 +60 more	Copy number gain	14q11.2 microduplication	GLikely pathogenic
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 666446	GRCh37/hg19 14q11.2(chr14:21717093-24027220)x3	SLC22A17, SLC7A7 +47 more	Copy number gain	not provided	GLikely pathogenic
Select item 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	GPathogenic
Select item 564102	GRCh37/hg19 14q11.2(chr14:23240787-23468899)x1	SLC7A7, MMP14 +9 more	Copy number loss	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	OR5AU1, OR6S1 +164 more	Copy number gain	See cases	GPathogenic
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 more	Copy number gain	See cases	GPathogenic

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Items: 46