ClinVar for Gene (Select 404552) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2319630	NM_206998.2(SCGB1D4):c.47G>A (p.Cys16Tyr)	SCGB1D4 (C16Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318027	NM_206998.2(SCGB1D4):c.143A>C (p.Lys48Thr)	SCGB1D4 (K48T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310498	NM_206998.2(SCGB1D4):c.135A>T (p.Gln45His)	SCGB1D4 (Q45H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231965	NM_206998.2(SCGB1D4):c.213T>A (p.Phe71Leu)	SCGB1D4 (F71L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 980954	GRCh37/hg19 11q12.3(chr11:61874941-62236378)x3	SCGB1D4, SCGB2A1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 980953	GRCh37/hg19 11q12.3(chr11:62010938-62116409)x1	ASRGL1, SCGB1D2 +2 more	Copy number loss	not provided	GUncertain significance
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 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 394819	GRCh37/hg19 11q12.3(chr11:61840997-62987330)x1	AHNAK, ASRGL1 +47 more	Copy number loss	See cases	GLikely pathogenic
Select item 394535	GRCh37/hg19 11q12.3(chr11:62039313-62063841)x3	SCGB1D4, SCGB2A2	Copy number gain	See cases	GLikely benign
Select item 149385	GRCh38/hg38 11q12.3(chr11:62249520-62946093)x3	AHNAK, ASRGL1 +110 more	Copy number gain	See cases	GPathogenic