MIR4497[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 57157	GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	ABTB3, ACACB +316 more	Copy number loss	See cases	GPathogenic
Select item 514316	NM_021625.5(TRPV4):c.-51G>A	MIR4497, TRPV4	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 882983	NM_021625.5(TRPV4):c.-59C>T	MIR4497, TRPV4	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease axonal type 2C +5 more	GUncertain significance
Select item 307145	NM_021625.5(TRPV4):c.-74G>A	MIR4497, TRPV4	Single nucleotide variant (non-coding transcript variant +1 more)	Metatropic dysplasia +5 more	GUncertain significance
Select item 881447	NM_021625.4(TRPV4):c.-92G>T	MIR4497, TRPV4	Single nucleotide variant (non-coding transcript variant)	Neuronopathy, distal hereditary motor, autosomal dominant 8 +5 more	GUncertain significance
Select item 368980	NR_039718.1(MIR4497):n.66C>T	MIR4497, TRPV4	Single nucleotide variant (non-coding transcript variant)	Metatropic dysplasia +5 more	GLikely benign

ClinVar