MIR3195[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065566, LOC130065567 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	LOC125387319, LOC125387320 +1024 more	Copy number gain	See cases	GPathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	ABHD16B, ADRM1 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	ABHD16B, ADRM1 +491 more	Copy number gain	See cases	GPathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066376, LOC130066377 +464 more	Copy number gain	See cases	GPathogenic
Select item 146530	GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3	LOC132090595, LOC132090596 +355 more	Copy number gain	See cases	GPathogenic
Select item 150212	GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3	ABHD16B, ADRM1 +312 more	Copy number gain	See cases	GPathogenic
Select item 148773	GRCh38/hg38 20q13.33(chr20:61588953-62241744)x3	CDH4, HRH3 +30 more	Copy number gain	See cases	GUncertain significance
Select item 1707464	Single allele	ADRM1, ARFGAP1 +198 more	Duplication	not specified	GUncertain significance
Select item 2364120	NM_003185.4(TAF4):c.1007C>T (p.Ala336Val)	MIR3195, TAF4 (A336V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2331304	NM_003185.4(TAF4):c.1001C>T (p.Ala334Val)	MIR3195, TAF4 (A334V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2546619	NM_003185.4(TAF4):c.980G>A (p.Gly327Asp)	MIR3195, TAF4 (G327D)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2342377	NM_003185.4(TAF4):c.973G>T (p.Val325Phe)	MIR3195, TAF4 (V325F)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1227169	NM_003185.4(TAF4):c.969G>T (p.Ala323=)	MIR3195, TAF4	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2611667	NM_003185.4(TAF4):c.944C>G (p.Pro315Arg)	MIR3195, TAF4 (P315R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2475432	NM_003185.4(TAF4):c.940G>C (p.Ala314Pro)	MIR3195, TAF4 (A314P)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance