10179[Gene ID] - ClinVar

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

Search results

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	BCL9L, BLID +774 more	Copy number gain	See cases	GPathogenic
Select item 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	LOC130006895, LOC130006896 +355 more	Copy number gain	See cases	GPathogenic
Select item 2642389	NM_001286045.2(RBM7):c.10G>C (p.Ala4Pro)	RBM7 (A4P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3152462	NM_001286045.2(RBM7):c.16G>A (p.Ala6Thr)	RBM7 (A6T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314371	NM_001286045.2(RBM7):c.32C>T (p.Thr11Ile)	RBM7 (T11I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152461	NM_001286045.2(RBM7):c.110T>C (p.Ile37Thr)	RBM7 (I37T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2330307	NM_001286045.2(RBM7):c.140G>A (p.Gly47Asp)	RBM7 (G47D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2349322	NM_001286045.2(RBM7):c.233G>A (p.Arg78Lys)	RBM7 (R78K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3152464	NM_001286045.2(RBM7):c.369T>G (p.Asp123Glu)	RBM7 (D122E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152465	NM_001286045.2(RBM7):c.410C>T (p.Ser137Phe)	RBM7 (S137F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623164	NM_001286045.2(RBM7):c.463A>C (p.Met155Leu)	RBM7 (M154L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152466	NM_001286045.2(RBM7):c.548A>G (p.Asn183Ser)	RBM7 (N183S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284076	NM_001286045.2(RBM7):c.592C>G (p.Gln198Glu)	RBM7 (Q197E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 871214	NM_001286045.2(RBM7):c.680A>G (p.His227Arg)	RBM7 (H106R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2548926	NM_001286045.2(RBM7):c.692G>A (p.Gly231Glu)	RBM7 (G110E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152467	NM_001286045.2(RBM7):c.718G>A (p.Asp240Asn)	RBM7 (D240N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313322	NM_001286045.2(RBM7):c.787C>T (p.Arg263Cys)	RBM7 (R142C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313323	NM_001286045.2(RBM7):c.788G>T (p.Arg263Leu)	RBM7 (R263L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 1808702	GRCh37/hg19 11q22.3-23.3(chr11:109328787-116414966)x1	ALG9, ANKK1 +50 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1341168	GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3	ABCG4, ACRV1 +172 more	Copy number gain	not provided	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	AASDHPPT, ACAT1 +182 more	Copy number loss	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 973579	NC_000011.9:g.104288964_134937416dup	VSIG2, VWA5A +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 815468	GRCh37/hg19 11q22.3-23.3(chr11:105699599-114524876)x1	AASDHPPT, ACAT1 +68 more	Copy number loss	not provided	GPathogenic
Select item 815462	GRCh37/hg19 11q22.3-23.2(chr11:103320065-114349787)x1	AASDHPPT, ACAT1 +76 more	Copy number loss	not provided	GPathogenic
Select item 688245	GRCh37/hg19 11q23.1-23.3(chr11:110969076-114578509)x1	ALG9, ANKK1 +45 more	Copy number loss	not provided	GUncertain significance
Select item 688050	GRCh37/hg19 11q22.3-23.3(chr11:104101411-116680918)x1	AASDHPPT, ACAT1 +80 more	Copy number loss	not provided	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
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

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: 33