22235[HGNC] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57386	GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1	ABHD6, ACOX2 +218 more	Copy number loss	See cases	GPathogenic
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	HTD2, HTR1F +482 more	Copy number loss	See cases	GPathogenic
Select item 150755	GRCh38/hg38 3p14.3-14.1(chr3:57430538-64884522)x1	ABHD6, ACOX2 +155 more	Copy number loss	See cases	GPathogenic
Select item 153923	GRCh38/hg38 3p14.3-14.2(chr3:58498793-60217173)x3	ACOX2, CFAP20DC +23 more	Copy number gain	See cases	GUncertain significance
Select item 2213483	NM_001128214.2(KCTD6):c.92C>T (p.Thr31Met)	KCTD6 (T31M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366164	NM_001128214.2(KCTD6):c.611C>T (p.Thr204Met)	KCTD6 (T204M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287855	NM_001128214.2(KCTD6):c.617G>A (p.Arg206His)	KCTD6 (R206H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113666	NM_001128214.2(KCTD6):c.619A>C (p.Asn207His)	KCTD6 (N207H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246999	NC_000003.11:g.(?_57843440)_(58520833_?)del	ABHD6, ACOX2 +7 more	Deletion	not provided	GPathogenic
Select item 3062680	GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1	ABHD14A, ABHD14B +86 more	Copy number loss	not specified	GPathogenic
Select item 2423438	NC_000003.11:g.(?_57130421)_(58520833_?)del	ABHD6, ACOX2 +15 more	Deletion	Pyruvate dehydrogenase E1-beta deficiency	GUncertain significance
Select item 685671	GRCh37/hg19 3p14.3-14.1(chr3:57076136-65716956)x1	ABHD6, ACOX2 +34 more	Copy number loss	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253632	GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1	ABHD6, ACOX2 +66 more	Copy number loss	See cases	GPathogenic