MIR6812[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 2173731	NM_015937.6(PIGT):c.1485-20C>T	MIR6812, PIGT	Single nucleotide variant (non-coding transcript variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 2132488	NM_015937.6(PIGT):c.1485-19G>A	MIR6812, PIGT	Single nucleotide variant (non-coding transcript variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GLikely benign
Select item 2727959	NM_015937.6(PIGT):c.1485-12C>T	MIR6812, PIGT	Single nucleotide variant (non-coding transcript variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3	GBenign

ClinVar