ClinVar for Gene (Select 100132215) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3087717	NM_001142616.3(EHBP1):c.3405A>T (p.Glu1135Asp)	EHBP1, EHBP1-AS1 (E1134D +7 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3087716	NM_001142616.3(EHBP1):c.3307C>A (p.Arg1103Ser)	EHBP1, EHBP1-AS1 (R1139S +7 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2372334	NM_001142616.3(EHBP1):c.3365T>A (p.Val1122Asp)	EHBP1, EHBP1-AS1 (V1158D +7 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2264420	NM_001142616.3(EHBP1):c.3390G>T (p.Lys1130Asn)	EHBP1, EHBP1-AS1 (K1130N +7 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2237865	NM_001142616.3(EHBP1):c.3289A>G (p.Thr1097Ala)	EHBP1, EHBP1-AS1 (T1167A +7 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 154940	GRCh38/hg38 2p16.1-15(chr2:58031916-63611810)x1	B3GNT2, BCL11A +177 more	Copy number loss	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 60148	GRCh38/hg38 2p16.1-14(chr2:58873039-64190332)x1	B3GNT2, BCL11A +187 more	Copy number loss	See cases	GPathogenic