7411[HGNC] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149385	GRCh38/hg38 11q12.3(chr11:62249520-62946093)x3	AHNAK, ASRGL1 +110 more	Copy number gain	See cases	GPathogenic
Select item 59754	GRCh38/hg38 11q12.3(chr11:62433886-63096003)x3	AHNAK, B3GAT3 +105 more	Copy number gain	See cases	GPathogenic
Select item 59755	GRCh38/hg38 11q12.3(chr11:62452571-62862781)x3	AHNAK, B3GAT3 +95 more	Copy number gain	See cases	GPathogenic
Select item 145432	GRCh38/hg38 11q12.3(chr11:62562836-62840570)x3	B3GAT3, BSCL2 +70 more	Copy number gain	See cases	GUncertain significance
Select item 3213216	NM_004739.4(MTA2):c.1939C>G (p.Pro647Ala)	MTA2 (P647A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255636	NM_004739.4(MTA2):c.1931C>T (p.Ala644Val)	MTA2 (A471V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213209	NM_004739.4(MTA2):c.1924C>A (p.Leu642Met)	MTA2 (L469M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472977	NM_004739.4(MTA2):c.1888C>T (p.Arg630Cys)	MTA2 (R457C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361677	NM_004739.4(MTA2):c.1875G>A (p.Met625Ile)	MTA2 (M625I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373915	NM_004739.4(MTA2):c.1756A>G (p.Ser586Gly)	MTA2 (S413G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235598	NM_004739.4(MTA2):c.1751G>A (p.Arg584His)	MTA2 (R411H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213190	NM_004739.4(MTA2):c.1652G>A (p.Arg551Gln)	MTA2 (R551Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338981	NM_004739.4(MTA2):c.1651C>T (p.Arg551Trp)	MTA2 (R551W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241282	NM_004739.4(MTA2):c.1607G>A (p.Arg536Gln)	MTA2 (R363Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372904	NM_004739.4(MTA2):c.1561G>A (p.Val521Ile)	MTA2 (V521I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340979	NM_004739.4(MTA2):c.1507G>A (p.Ala503Thr)	MTA2 (A330T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213168	NM_004739.4(MTA2):c.1295A>C (p.Gln432Pro)	MTA2 (Q432P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251136	NM_004739.4(MTA2):c.1243C>T (p.Arg415Trp)	MTA2 (R415W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219176	NM_004739.4(MTA2):c.1166G>A (p.Arg389His)	MTA2 (R389H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325747	NM_004739.4(MTA2):c.970G>T (p.Ala324Ser)	MTA2 (A151S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205067	NM_004739.4(MTA2):c.926T>C (p.Met309Thr)	MTA2 (M309T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213223	NM_004739.4(MTA2):c.784C>T (p.Arg262Trp)	MTA2 (R262W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213221	NM_004739.4(MTA2):c.525G>C (p.Glu175Asp)	MTA2 (E175D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272819	NM_004739.4(MTA2):c.274C>G (p.Arg92Gly)	MTA2 (R92G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3296509	NM_004739.4(MTA2):c.178G>A (p.Asp60Asn)	MTA2 (D60N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3244738	NC_000011.9:g.(?_62105450)_(62414071_?)dup	AHNAK, ASRGL1 +8 more	Duplication	not provided	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815435	GRCh37/hg19 11q12.2-12.3(chr11:60385382-62456278)x3	CD5, CD6 +58 more	Copy number gain	not provided	GUncertain significance
Select item 689150	GRCh37/hg19 11q12.3(chr11:62314663-62788240)x3	B3GAT3, BSCL2 +36 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 394819	GRCh37/hg19 11q12.3(chr11:61840997-62987330)x1	AHNAK, ASRGL1 +47 more	Copy number loss	See cases	GLikely pathogenic

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Items: 37