SCGB2A2[gene] - ClinVar

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Items: 21

	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 2398430	NM_002411.4(SCGB2A2):c.151G>A (p.Asp51Asn)	SCGB2A2 (D51N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410822	NM_002411.4(SCGB2A2):c.160G>A (p.Ala54Thr)	SCGB2A2 (A54T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158407	NM_002411.4(SCGB2A2):c.161C>T (p.Ala54Val)	SCGB2A2 (A54V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352537	NM_002411.4(SCGB2A2):c.233A>G (p.Glu78Gly)	SCGB2A2 (E78G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2264640	NM_002411.4(SCGB2A2):c.238T>C (p.Phe80Leu)	SCGB2A2 (F80L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3158408	NM_002411.4(SCGB2A2):c.251T>C (p.Ile84Thr)	SCGB2A2 (I84T)	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	ACTN3, ACY3 +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	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	ACER3, ACP2 +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)	B3GAT3, B3GNT6 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	PTPMT1, PTPN5 +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

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Items: 21