ClinVar for Gene (Select 64343) - ClinVar

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Links from Gene

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3258476	NM_022461.5(AZI2):c.424G>A (p.Val142Met)	AZI2 (V142M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258465	NM_022461.5(AZI2):c.542A>C (p.Lys181Thr)	AZI2 (K69T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258455	NM_022461.5(AZI2):c.688A>G (p.Met230Val)	AZI2 (M118V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258444	NM_022461.5(AZI2):c.1123C>G (p.Leu375Val)	AZI2, CMC1 (L375V +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3258423	NM_022461.5(AZI2):c.1093A>T (p.Thr365Ser)	AZI2, CMC1 (T365S +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3132507	NM_022461.5(AZI2):c.925G>T (p.Val309Phe)	AZI2, CMC1 (V309F +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3132506	NM_022461.5(AZI2):c.469A>G (p.Asn157Asp)	AZI2 (N45D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132505	NM_022461.5(AZI2):c.425T>C (p.Val142Ala)	AZI2 (V30A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132504	NM_022461.5(AZI2):c.424G>T (p.Val142Leu)	AZI2 (V142L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132503	NM_022461.5(AZI2):c.1171A>G (p.Lys391Glu)	AZI2, CMC1 (K391E +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 2685909	GRCh37/hg19 3p24.1(chr3:27922746-29158022)x3	AZI2, CMC1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2685076	GRCh37/hg19 3p24.1(chr3:28319406-28452165)x1	AZI2, CMC1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2537694	NM_022461.5(AZI2):c.230T>C (p.Phe77Ser)	AZI2 (F77S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483058	NM_022461.5(AZI2):c.341A>G (p.Asn114Ser)	AZI2 (N2S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390846	NM_022461.5(AZI2):c.221T>G (p.Ile74Arg)	AZI2 (I74R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390019	NM_022461.5(AZI2):c.800G>T (p.Gly267Val)	CMC1, AZI2 (G267V +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2371532	NM_022461.5(AZI2):c.1018G>A (p.Gly340Ser)	AZI2, CMC1 (G340S +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2358322	NM_022461.5(AZI2):c.200G>T (p.Arg67Ile)	AZI2 (R67I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272470	NM_022461.5(AZI2):c.779T>C (p.Val260Ala)	AZI2, CMC1 (V260A +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2239509	NM_022461.5(AZI2):c.359C>T (p.Ser120Phe)	AZI2 (S120F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223540	NM_022461.5(AZI2):c.82A>G (p.Ile28Val)	AZI2 (I28V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1527003	GRCh37/hg19 3p24.1(chr3:27922745-29160209)	AZI2, CMC1 +1 more	Copy number gain	not specified	GUncertain significance
Select item 1527002	GRCh37/hg19 3p24.2-22.3(chr3:25045365-32691140)	AZI2, CMC1 +20 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1455527	NC_000003.11:g.(?_16710965)_(41275270_?)del	ACAA1, ACVR2B +93 more	Deletion	not provided	GPathogenic
Select item 1340459	GRCh37/hg19 3p24.1(chr3:28021987-28927589)x3	AZI2, CMC1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 814430	GRCh37/hg19 3p24.2-24.1(chr3:25901794-29520717)x1	AZI2, EOMES +6 more	Copy number loss	not provided	GUncertain significance
Select item 688075	GRCh37/hg19 3p24.1(chr3:28076848-28660659)x3	AZI2, CMC1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 562760	GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	ABHD5, ACAA1 +135 more	Copy number gain	not provided	GPathogenic
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	ANKRD28, APRG1 +155 more	Copy number gain	See cases	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 441705	GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	TRIM71, TRNT1 +145 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 150437	GRCh38/hg38 3p24.1(chr3:28103194-29104771)x3	AZI2, CMC1 +11 more	Copy number gain	See cases	GLikely benign
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 40