ClinVar for Gene (Select 100505624) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3103149	NM_001035521.3(GTF3C2):c.1561G>A (p.Ala521Thr)	GTF3C2, GTF3C2-AS1 (A445T +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3103148	NM_001035521.3(GTF3C2):c.1096C>T (p.Pro366Ser)	GTF3C2, GTF3C2-AS1 (P340S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2650766	NM_001035521.3(GTF3C2):c.1329C>A (p.Gly443=)	GTF3C2, GTF3C2-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2408316	NM_001035521.3(GTF3C2):c.1457C>T (p.Thr486Ile)	GTF3C2, GTF3C2-AS1 (T460I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 153817	GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1	ABHD1, ADCY3 +321 more	Copy number loss	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806176, LOC126806177 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933242, LOC129933243 +1631 more	Copy number gain	See cases	GPathogenic