ClinVar for Gene (Select 100505758) - ClinVar - NCBI

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Links from Gene

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	TRDC, TRDD1 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 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 152232	GRCh38/hg38 14q11.2(chr14:21010790-22951814)x3	ABHD4, ARHGEF40 +242 more	Copy number gain	See cases	GUncertain significance
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	ABHD4, ACIN1 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
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 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC130055370, LOC130055371 +840 more	Copy number loss	See cases	GPathogenic
Select item 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	ABHD4, ACIN1 +399 more	Copy number gain	See cases	GPathogenic