SCGB2A1[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2556894	NM_002407.3(SCGB2A1):c.7C>G (p.Leu3Val)	SCGB2A1 (L3V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158406	NM_002407.3(SCGB2A1):c.28G>T (p.Ala10Ser)	SCGB2A1 (A10S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286651	NM_002407.3(SCGB2A1):c.41T>C (p.Leu14Pro)	SCGB2A1 (L14P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322518	NM_002407.3(SCGB2A1):c.49T>C (p.Tyr17His)	SCGB2A1 (Y17H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158405	NM_002407.3(SCGB2A1):c.101A>G (p.Asn34Ser)	SCGB2A1 (N34S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393266	NM_002407.3(SCGB2A1):c.130G>A (p.Glu44Lys)	SCGB2A1 (E44K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550723	NM_002407.3(SCGB2A1):c.143A>T (p.Glu48Val)	SCGB2A1 (E48V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412263	NM_002407.3(SCGB2A1):c.176T>C (p.Met59Thr)	SCGB2A1 (M59T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316462	NM_002407.3(SCGB2A1):c.179G>A (p.Gly60Glu)	SCGB2A1 (G60E)	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 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 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 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

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Items: 21