ClinVar for Gene (Select 3688) - ClinVar

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Links from Gene

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3111417	NM_002211.4(ITGB1):c.752G>T (p.Gly251Val)	ITGB1 (G251V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111416	NM_002211.4(ITGB1):c.596C>A (p.Thr199Lys)	ITGB1 (T199K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111415	NM_002211.4(ITGB1):c.2170C>G (p.Pro724Ala)	ITGB1 (P724A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111414	NM_002211.4(ITGB1):c.1751A>G (p.Asn584Ser)	ITGB1 (N584S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111413	NM_002211.4(ITGB1):c.1544A>T (p.Tyr515Phe)	ITGB1 (Y515F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111412	NM_002211.4(ITGB1):c.1484G>A (p.Arg495His)	ITGB1 (R495H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111411	NM_002211.4(ITGB1):c.1361T>C (p.Val454Ala)	ITGB1 (V454A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111410	NM_002211.4(ITGB1):c.1094G>A (p.Ser365Asn)	ITGB1 (S365N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685372	GRCh37/hg19 10p11.22-11.21(chr10:32617120-36913676)x1	CCDC7, CCNY +8 more	Copy number loss	not provided	GUncertain significance
Select item 2684601	GRCh37/hg19 10p11.22(chr10:33097451-33388370)x3	CCDC7, ITGB1	Copy number gain	not provided	GUncertain significance
Select item 2623849	NM_002211.4(ITGB1):c.277A>G (p.Lys93Glu)	ITGB1 (K93E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619131	NM_002211.4(ITGB1):c.1882C>G (p.Gln628Glu)	ITGB1 (Q628E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617278	NM_002211.4(ITGB1):c.1217A>C (p.Asn406Thr)	ITGB1 (N406T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605451	NM_002211.4(ITGB1):c.2185A>T (p.Ile729Phe)	ITGB1 (I729F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2526169	NM_002211.4(ITGB1):c.128C>T (p.Pro43Leu)	ITGB1 (P43L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508894	NM_002211.4(ITGB1):c.2331+1279G>A	ITGB1 (G796R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479672	NM_002211.4(ITGB1):c.2239T>G (p.Leu747Val)	ITGB1 (L747V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471380	NM_002211.4(ITGB1):c.1691A>G (p.Asn564Ser)	ITGB1 (N564S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395278	NM_002211.4(ITGB1):c.2027G>T (p.Arg676Leu)	ITGB1 (R676L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358965	NM_002211.4(ITGB1):c.1183A>G (p.Ile395Val)	ITGB1 (I395V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357692	NM_002211.4(ITGB1):c.1159G>A (p.Gly387Ser)	ITGB1 (G387S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2352981	NM_002211.4(ITGB1):c.718C>T (p.Arg240Cys)	ITGB1 (R240C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280313	NM_002211.4(ITGB1):c.1012A>C (p.Thr338Pro)	ITGB1 (T338P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270077	NM_002211.4(ITGB1):c.605A>C (p.Lys202Thr)	ITGB1 (K202T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254323	NM_002211.4(ITGB1):c.970C>G (p.Gln324Glu)	ITGB1 (Q324E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246807	NM_002211.4(ITGB1):c.522G>C (p.Arg174Ser)	ITGB1 (R174S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237885	NM_002211.4(ITGB1):c.719G>A (p.Arg240His)	ITGB1 (R240H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225092	NM_002211.4(ITGB1):c.1534A>C (p.Met512Leu)	ITGB1 (M512L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221392	NM_002211.4(ITGB1):c.1703G>A (p.Cys568Tyr)	ITGB1 (C568Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209987	NM_002211.4(ITGB1):c.984A>C (p.Glu328Asp)	ITGB1 (E328D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527577	GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521)	ABI1, ACBD5 +111 more	Copy number gain	not specified	GPathogenic
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ACBD7, ABI1 +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 1328108	GRCh37/hg19 10p11.23-11.22(chr10:30624523-33688350)x1	ARHGAP12, CCDC7 +9 more	Copy number loss	not provided	GPathogenic
Select item 776505	NM_002211.4(ITGB1):c.67+5A>G	ITGB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 773233	NM_002211.4(ITGB1):c.942+8C>T	ITGB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 766303	NM_002211.4(ITGB1):c.2164+10C>T	ITGB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 762386	NM_002211.4(ITGB1):c.639C>T (p.Cys213=)	ITGB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 712042	NM_002211.4(ITGB1):c.1809C>T (p.Asn603=)	ITGB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 709693	NM_002211.4(ITGB1):c.505C>T (p.Leu169=)	ITGB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 691359	NM_002211.4(ITGB1):c.2252G>A (p.Trp751Ter)	ITGB1 (W751*)	Single nucleotide variant (nonsense)	Esophageal atresia +1 more	GUncertain significance
Select item 686447	GRCh37/hg19 10p11.22(chr10:33083542-33298983)x3	CCDC7, ITGB1	Copy number gain	not provided	GUncertain significance
Select item 685942	GRCh37/hg19 10p11.22(chr10:33220122-33300851)x3	ITGB1	Copy number gain	not provided	GUncertain significance
Select item 518462	NM_002211.4(ITGB1):c.2303dup (p.Glu769fs)	ITGB1 (E769fs)	Duplication (frameshift variant)	Neural tube defect	Grisk factor
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	BCCIP, BEND7 +722 more	Copy number gain	See cases	GPathogenic
Select item 226204	GRCh37/hg19 10p11.22(chr10:33086451-33279862)	ITGB1, CCDC7	Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 221475	GRCh37/hg19 10p11.22-11.21(chr10:32323692-37520394)x3	CREM, CUL2 +10 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	AGAP4, AGAP9 +1221 more	Copy number gain	See cases	GBenign
Select item 146088	GRCh38/hg38 10p11.22-11.1(chr10:31999920-38119681)x3	ANKRD30A, CCDC7 +119 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 53