RBM7[gene] - ClinVar

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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

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Items: 33