LDB1[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 2297369	NM_001113407.3(LDB1):c.1199G>A (p.Ser400Asn)	LDB1 (S398N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397323	NM_001113407.3(LDB1):c.1125G>C (p.Glu375Asp)	LDB1 (E339D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118207	NM_001113407.3(LDB1):c.1057G>A (p.Glu353Lys)	LDB1 (E351K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118206	NM_001113407.3(LDB1):c.1015G>A (p.Val339Met)	LDB1 (V303M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332255	NM_001113407.3(LDB1):c.919A>G (p.Met307Val)	LDB1 (M307V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485934	NM_001113407.3(LDB1):c.910G>T (p.Gly304Cys)	LDB1 (G268C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544080	NM_001113407.3(LDB1):c.868C>T (p.Arg290Cys)	LDB1 (R254C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290032	NM_001113407.3(LDB1):c.773G>A (p.Arg258His)	LDB1 (R222H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118208	NM_001113407.3(LDB1):c.710A>G (p.Asn237Ser)	LDB1 (N201S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481126	NM_001113407.3(LDB1):c.666G>T (p.Met222Ile)	LDB1 (M186I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320390	NM_001113407.3(LDB1):c.483G>T (p.Gln161His)	LDB1, LOC126861021 (Q125H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613369	NM_001113407.3(LDB1):c.476G>C (p.Cys159Ser)	LDB1, LOC126861021 (C159S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640775	NM_001113407.3(LDB1):c.399G>T (p.Glu133Asp)	LDB1, LOC126861021 (E133D +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2326334	NM_001113407.3(LDB1):c.197A>C (p.Gln66Pro)	LDB1, LOC126861021 (Q66P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332654	NM_001113407.3(LDB1):c.124G>A (p.Val42Met)	LDB1, LOC126861021 (V6M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118209	NM_001113407.3(LDB1):c.76G>A (p.Gly26Ser)	LDB1 (G26S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3342255	Single allele	ACTR1A, ARL3 +35 more	Deletion	See cases	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2424090	NC_000010.10:g.(?_99344461)_(105992004_?)dup	CPN1, CRTAC1 +95 more	Duplication	not provided	GUncertain significance
Select item 979286	GRCh37/hg19 10q24.32(chr10:103582453-103931269)x3	HPS6, NOLC1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +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	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 377387	GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1	CYP17A1, KLLN +206 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic

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Items: 33