ClinVar for Gene (Select 643834) - ClinVar

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Links from Gene

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3305918	NM_001079807.4(PGA3):c.418G>A (p.Gly140Ser)	PGA3 (G140S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305916	NM_001079807.4(PGA3):c.412G>A (p.Gly138Ser)	PGA3 (G138S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211613	NM_001079807.4(PGA3):c.89G>A (p.Arg30His)	PGA3 (R30H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211612	NM_001079807.4(PGA3):c.877A>G (p.Ile293Val)	PGA3 (I293V)	Single nucleotide variant (missense variant)	not specified	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 2641820	NM_001079807.4(PGA3):c.975T>C (p.Asn325=)	PGA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2589353	NM_001079807.4(PGA3):c.916G>A (p.Asp306Asn)	PGA3 (D306N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509892	NM_001079807.4(PGA3):c.31G>A (p.Ala11Thr)	PGA3 (A11T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2364894	NM_001079807.4(PGA3):c.88C>T (p.Arg30Cys)	PGA3 (R30C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352976	NM_001079807.4(PGA3):c.937G>T (p.Ala313Ser)	PGA3 (A313S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2294589	NM_001079807.4(PGA3):c.103C>T (p.Arg35Cys)	PGA3 (R35C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281142	NM_001079807.4(PGA3):c.1057C>G (p.Leu353Val)	PGA3 (L353V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
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 687991	GRCh37/hg19 11q12.2(chr11:60499486-61529578)x3	CCDC86, CD5 +27 more	Copy number gain	not provided	GUncertain significance
Select item 563873	GRCh37/hg19 11q12.1-12.3(chr11:58935215-62177656)x3	ASRGL1, BEST1 +72 more	Copy number gain	not provided	GLikely pathogenic
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 150457	GRCh38/hg38 11q12.2(chr11:61181337-61516830)x3	CPSF7, CYB561A3 +23 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 24