ClinVar for Gene (Select 7356) - ClinVar

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Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3158402	NM_003357.5(SCGB1A1):c.74C>T (p.Pro25Leu)	SCGB1A1 (P25L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158401	NM_003357.5(SCGB1A1):c.56C>T (p.Ala19Val)	SCGB1A1 (A19V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158400	NM_003357.5(SCGB1A1):c.266T>C (p.Leu89Pro)	SCGB1A1 (L89P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158399	NM_003357.5(SCGB1A1):c.242T>C (p.Met81Thr)	SCGB1A1 (M81T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 1027621	NM_003357.5(SCGB1A1):c.-26G>A	SCGB1A1	Single nucleotide variant (5 prime UTR variant)	Chronic obstructive pulmonary disease	Gassociation
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 815435	GRCh37/hg19 11q12.2-12.3(chr11:60385382-62456278)x3	CD5, CD6 +58 more	Copy number gain	not provided	GUncertain significance
Select item 791050	NM_003357.5(SCGB1A1):c.99C>T (p.Thr33=)	SCGB1A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 728710	NM_003357.5(SCGB1A1):c.75G>A (p.Pro25=)	SCGB1A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +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 149385	GRCh38/hg38 11q12.3(chr11:62249520-62946093)x3	AHNAK, ASRGL1 +110 more	Copy number gain	See cases	GPathogenic
Select item 12253	NM_003357.5(SCGB1A1):c.-38=	SCGB1A1	Single nucleotide variant (no sequence alteration)	Inherited susceptibility to asthma	GUncertain significance

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Links from Gene

Items: 20