9224[HGNC] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 153751	GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1	LOC130007898, LOC130007899 +206 more	Copy number loss	See cases	GPathogenic
Select item 152062	GRCh38/hg38 12q13.12-13.13(chr12:50633888-52851909)x1	ACVR1B, ACVRL1 +136 more	Copy number loss	See cases	GPathogenic
Select item 2400176	NM_001330422.2(POU6F1):c.1666A>C (p.Ile556Leu)	POU6F1 (I556L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216981	NM_001330422.2(POU6F1):c.1660C>G (p.Gln554Glu)	POU6F1 (Q554E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384066	NM_001330422.2(POU6F1):c.1634G>A (p.Arg545His)	POU6F1 (R545H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216979	NM_001330422.2(POU6F1):c.1517A>G (p.Lys506Arg)	POU6F1 (K506R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307861	NM_001330422.2(POU6F1):c.1372C>T (p.Arg458Trp)	POU6F1 (R458W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398675	NM_001330422.2(POU6F1):c.1291G>A (p.Glu431Lys)	POU6F1 (E431K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216978	NM_001330422.2(POU6F1):c.1249G>A (p.Ala417Thr)	POU6F1 (A417T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551871	NM_001330422.2(POU6F1):c.1247C>G (p.Ala416Gly)	POU6F1 (A416G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309057	NM_001330422.2(POU6F1):c.1231G>A (p.Ala411Thr)	POU6F1 (A411T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2618214	NM_001330422.2(POU6F1):c.1216C>T (p.Pro406Ser)	POU6F1 (P406S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216977	NM_001330422.2(POU6F1):c.1180G>T (p.Val394Leu)	POU6F1 (V394L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283498	NM_001330422.2(POU6F1):c.1142G>A (p.Arg381Gln)	POU6F1 (R381Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309056	NM_001330422.2(POU6F1):c.1116C>G (p.Ser372Arg)	POU6F1 (S372R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216976	NM_001330422.2(POU6F1):c.1064C>A (p.Pro355His)	POU6F1 (P355H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 563940	GRCh37/hg19 12q13.12-13.13(chr12:51361462-51751521)x3	GALNT6, SLC11A2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 22