Related gene-specific medical variations for Gene (Select 22903) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3262014	NM_014962.4(BTBD3):c.23A>G (p.Asn8Ser)	BTBD3, BTBD3-AS1 (N8S)	Single nucleotide variant (intron variant +2 more)	not specified	GUncertain significance
Select item 3262012	NM_014962.4(BTBD3):c.265A>G (p.Ser89Gly)	BTBD3, BTBD3-AS1 (S89G +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3262011	NM_014962.4(BTBD3):c.221A>C (p.Asn74Thr)	BTBD3, BTBD3-AS1 (N13T +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3135426	NM_014962.4(BTBD3):c.289C>G (p.Pro97Ala)	BTBD3, BTBD3-AS1 (P97A +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3135425	NM_014962.4(BTBD3):c.271A>G (p.Asn91Asp)	BTBD3, BTBD3-AS1 (N30D +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2336379	NM_014962.4(BTBD3):c.245A>G (p.Gln82Arg)	BTBD3, BTBD3-AS1 (Q21R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216957	NM_014962.4(BTBD3):c.62C>T (p.Thr21Met)	BTBD3, BTBD3-AS1 (T21M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 979570	GRCh37/hg19 20p12.2-12.1(chr20:11703371-12682666)x3	BTBD3	Copy number gain	not provided	GLikely benign
Select item 564631	GRCh37/hg19 20p12.2(chr20:11282035-11922404)x3	BTBD3	Copy number gain	not provided	GLikely benign
Select item 442026	GRCh37/hg19 20p12.2-12.1(chr20:11658744-12624385)x3	BTBD3	Copy number gain	See cases	GUncertain significance
Select item 394522	GRCh37/hg19 20p12.2(chr20:11334702-11905269)x3	BTBD3	Copy number gain	See cases	GLikely benign