"GeneDx"[submitter] AND "MIR4440"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	LOC129935966, LOC129935967 +630 more	Copy number gain	See cases	GPathogenic
Select item 58851	GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1	ACKR3, AGAP1 +361 more	Copy number loss	See cases	GPathogenic
Select item 58852	GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1	RAB17-DT, RAMP1 +359 more	Copy number loss	See cases	GPathogenic
Select item 58879	GRCh38/hg38 2q37.1-37.3(chr2:234172536-242086301)x1	LOC126806577, LOC126806578 +334 more	Copy number loss	See cases	GPathogenic
Select item 58880	GRCh38/hg38 2q37.1-37.3(chr2:234668159-242126245)x1	PRLH, PRR21 +325 more	Copy number loss	See cases	GPathogenic
Select item 59177	GRCh38/hg38 2q37.2-37.3(chr2:235563664-242086301)x3	ACKR3, AGAP1 +303 more	Copy number gain	See cases	GPathogenic
Select item 58883	GRCh38/hg38 2q37.2-37.3(chr2:235741079-242032456)x1	ACKR3, AGAP1 +298 more	Copy number loss	See cases	GPathogenic
Select item 59178	GRCh38/hg38 2q37.3(chr2:237813997-240410487)x3	ASB1, COPS9 +102 more	Copy number gain	See cases	GPathogenic
Select item 151409	GRCh38/hg38 2q37.3(chr2:239045268-239678582)x1	HDAC4, HDAC4-AS1 +19 more	Copy number loss	See cases	GPathogenic
Select item 1687676	NM_001378414.1(HDAC4):c.2751-225C>A	HDAC4, MIR4440	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1278328	NM_001378414.1(HDAC4):c.2751-246A>G	HDAC4, MIR4440	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1232800	NM_001378414.1(HDAC4):c.2751-251C>T	HDAC4, MIR4440	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1229352	NM_001378414.1(HDAC4):c.2751-259C>A	HDAC4, MIR4440	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1268422	NM_001378414.1(HDAC4):c.2751-289A>C	HDAC4, MIR4440	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign