SCGB2B2[gene] - ClinVar

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

Search results

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 155638	GRCh38/hg38 19q11-13.11(chr19:27780238-34783942)x3	ANKRD27, C19orf12 +210 more	Copy number gain	See cases	GUncertain significance
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 153499	GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1	ANKRD27, CD22 +193 more	Copy number loss	See cases	GPathogenic
Select item 1338833	GRCh38/hg38 19q13.11(chr19:34469754-34644767)	LOC130064193, SCGB2B2 +2 more	Copy number loss	UBA2-related disorder	GPathogenic
Select item 3158410	NM_001025591.4(SCGB2B2):c.284C>A (p.Ala95Asp)	SCGB2B2 (A95D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298446	NM_001025591.4(SCGB2B2):c.268G>A (p.Asp90Asn)	SCGB2B2 (D90N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469247	NM_001025591.4(SCGB2B2):c.191A>G (p.Gln64Arg)	SCGB2B2 (Q64R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158409	NM_001025591.4(SCGB2B2):c.185A>G (p.Asn62Ser)	SCGB2B2 (N62S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246549	NM_001025591.4(SCGB2B2):c.184A>G (p.Asn62Asp)	SCGB2B2 (N62D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277541	NM_001025591.4(SCGB2B2):c.161C>A (p.Pro54His)	SCGB2B2 (P54H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225266	NM_001025591.4(SCGB2B2):c.146G>A (p.Arg49His)	SCGB2B2 (R49H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325075	NM_001025591.4(SCGB2B2):c.84T>A (p.Asp28Glu)	SCGB2B2 (D28E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377780	NM_001025591.4(SCGB2B2):c.82G>A (p.Asp28Asn)	SCGB2B2 (D28N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340348	NM_001025591.4(SCGB2B2):c.47G>T (p.Cys16Phe)	SCGB2B2 (C16F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496009	NM_001025591.4(SCGB2B2):c.37G>C (p.Ala13Pro)	SCGB2B2 (A13P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608059	NM_001025591.4(SCGB2B2):c.5G>A (p.Arg2Lys)	SCGB2B2 (R2K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	ALKBH6, APLP1 +83 more	Duplication	Hereditary spastic paraplegia 75	GUncertain significance
Select item 1526660	GRCh37/hg19 19q13.11(chr19:32827535-35263640)	ANKRD27, CEBPA +28 more	Copy number gain	not specified	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 625761	GRCh37/hg19 19q13.11-13.12(chr19:35043556-36316644)	ARHGAP33, ATP4A +44 more	Copy number loss	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394109	GRCh37/hg19 19q12-13.12(chr19:30735448-36120396)x3	ANKRD27, ATP4A +58 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 28