ClinVar for Gene (Select 643669) - ClinVar

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Links from Gene

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3021237	NM_001243212.2(CCER2):c.61+19G>A	CCER2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2997455	NM_001243212.2(CCER2):c.61G>T (p.Ala21Ser)	CCER2 (A21S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2859091	NM_001243212.2(CCER2):c.192G>C (p.Glu64Asp)	CCER2 (E64D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2859090	NM_001243212.2(CCER2):c.478G>A (p.Glu160Lys)	CCER2 (E160K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2859089	NM_001243212.2(CCER2):c.695A>C (p.Glu232Ala)	CCER2 (E232A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2796854	NM_001243212.2(CCER2):c.639CCA[7] (p.His220del)	CCER2 (H220del)	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 2751640	NM_001243212.2(CCER2):c.229G>A (p.Glu77Lys)	CCER2 (E77K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2747893	NM_001243212.2(CCER2):c.604G>A (p.Glu202Lys)	CCER2 (E202K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2743110	NM_001243212.2(CCER2):c.103-3C>A	CCER2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2736889	NM_001243212.2(CCER2):c.639CCA[5] (p.His218_His220del)	CCER2	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 2715064	NM_001243212.2(CCER2):c.213C>T (p.His71=)	CCER2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2712177	NM_001243212.2(CCER2):c.584G>A (p.Arg195His)	CCER2 (R195H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2186768	NM_001243212.2(CCER2):c.6G>T (p.Pro2=)	CCER2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2055674	NM_001243212.2(CCER2):c.626G>A (p.Arg209His)	CCER2 (R209H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2045526	NM_001243212.2(CCER2):c.202A>T (p.Thr68Ser)	CCER2 (T68S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1989467	NM_001243212.2(CCER2):c.190+11C>A	CCER2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1901684	NM_001243212.2(CCER2):c.702G>A (p.Ser234=)	CCER2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1896023	NM_001243212.2(CCER2):c.61+18C>T	CCER2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1632690	NM_001243212.2(CCER2):c.622A>G (p.Arg208Gly)	CCER2 (R208G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1611334	NM_001243212.2(CCER2):c.99G>C (p.Glu33Asp)	CCER2 (E33D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1428831	NM_001243212.2(CCER2):c.754AAG[1] (p.Lys253del)	CCER2 (K253del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 23