ClinVar for Gene (Select 152100) - ClinVar

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Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3267963	NM_182523.2(CMC1):c.40G>A (p.Glu14Lys)	CMC1 (E58K +2 more)	Single nucleotide variant (missense variant +2 more)	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 3146210	NM_182523.2(CMC1):c.32G>C (p.Arg11Thr)	CMC1 (R14T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3146209	NM_182523.2(CMC1):c.296T>C (p.Leu99Pro)	CMC1 (L102P +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 2685076	GRCh37/hg19 3p24.1(chr3:28319406-28452165)x1	AZI2, CMC1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2617977	NM_182523.2(CMC1):c.128A>G (p.Lys43Arg)	CMC1 (K13R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487213	NM_182523.2(CMC1):c.254G>T (p.Arg85Met)	CMC1 (R117M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390074	NM_182523.2(CMC1):c.258A>C (p.Glu86Asp)	CMC1 (E118D +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390019	NM_022461.5(AZI2):c.800G>T (p.Gly267Val)	AZI2, CMC1 (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 2294618	NM_182523.2(CMC1):c.125G>A (p.Cys42Tyr)	CMC1 (C12Y +5 more)	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 2246529	NM_182523.2(CMC1):c.67A>G (p.Met23Val)	CMC1 (M67V +3 more)	Single nucleotide variant (missense variant +2 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 980517	GRCh37/hg19 3p24.1(chr3:28255118-28311631)x1	CMC1	Copy number loss	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: 38