2771[geneid] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 3364947	NM_002070.4(GNAI2):c.143C>T (p.Thr48Ile)	GNAI2 (T11I +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 789467	NM_002070.4(GNAI2):c.171C>T (p.His57=)	GNAI2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3281759	NM_002070.4(GNAI2):c.212C>A (p.Ala71Glu)	GNAI2 (A55E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 809488	NM_002070.4(GNAI2):c.302C>T (p.Ala101Val)	GNAI2 (A85V +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3039958	NM_002070.4(GNAI2):c.342C>T (p.Ala114=)	GNAI2	Single nucleotide variant (synonymous variant)	GNAI2-related disorder	GLikely benign
Select item 3365711	NM_002070.4(GNAI2):c.362C>G (p.Pro121Arg)	GNAI2 (P105R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2325162	NM_002070.4(GNAI2):c.386G>A (p.Arg129Gln)	GNAI2 (R48Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 15905	NM_002070.4(GNAI2):c.535C>G (p.Arg179Gly)	GNAI2 (R179G +4 more)	Single nucleotide variant (missense variant)	Pituitary dependent hypercortisolism	GPathogenic
Select item 15903	NM_002070.4(GNAI2):c.535C>T (p.Arg179Cys)	GNAI2 (R179C +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 15904	NM_002070.4(GNAI2):c.536G>A (p.Arg179His)	GNAI2 (R179H +4 more)	Single nucleotide variant (missense variant)	Ovarian granulosa cell tumor +2 more	GPathogenic
Select item 1803978	NM_002070.4(GNAI2):c.544A>C (p.Thr182Pro)	GNAI2 (T101P +4 more)	Single nucleotide variant (missense variant)	Retractile testis +6 more	GLikely pathogenic OUncertain significance
Select item 15906	NM_002070.4(GNAI2):c.600T>A (p.Phe200Leu)	GNAI2 (F200L +4 more)	Single nucleotide variant (missense variant)	Ventricular tachycardia, somatic	GPathogenic
Select item 3365901	NM_002070.4(GNAI2):c.819C>A (p.Asp273Glu)	GNAI2 (D192E +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2236264	NM_002070.4(GNAI2):c.848C>A (p.Pro283His)	GNAI2 (P202H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052456	NM_002070.4(GNAI2):c.849C>T (p.Pro283=)	GNAI2	Single nucleotide variant (synonymous variant)	GNAI2-related disorder	GLikely benign
Select item 869193	NM_002070.4(GNAI2):c.879G>A (p.Gly293=)	GNAI2	Single nucleotide variant (synonymous variant)	Familial isolated pituitary adenoma	GUncertain significance
Select item 2653856	NM_002070.4(GNAI2):c.1014C>T (p.Asp338=)	GNAI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2244527	NM_002070.4(GNAI2):c.1057G>A (p.Gly353Ser)	GNAI2 (G316S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426218	NC_000003.11:g.(?_49866536)_(50540854_?)dup	CACNA2D2, CAMKV +23 more	Duplication	Primary ciliary dyskinesia	GUncertain significance
Select item 1456135	NC_000003.11:g.(?_49547968)_(50685477_?)del	AMIGO3, APEH +38 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 1068732	NC_000003.11:g.(?_48507870)_(50340407_?)del	AMIGO3, AMT +62 more	Deletion	Chilblain lupus 1 +2 more	GPathogenic
Select item 1056363	NC_000003.11:g.(?_50154507)_(50295122_?)dup	GNAI2, GNAT1 +4 more	Duplication	not provided	GUncertain significance
Select item 980510	GRCh37/hg19 3p21.31-21.2(chr3:48807193-51363558)x1	AMIGO3, AMT +64 more	Copy number loss	not provided	GPathogenic
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	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 221434	GRCh37/hg19 3p21.31(chr3:50273827-50403519)x3	CACNA2D2, CYB561D2 +13 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 29