LDLRAD3[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	PAX6_HS3, PAX6_HS8 +334 more	Copy number loss	See cases	GPathogenic
Select item 59751	GRCh38/hg38 11p13-12(chr11:34161694-36799127)x3	ABTB2, APIP +100 more	Copy number gain	See cases	GPathogenic
Select item 154920	GRCh38/hg38 11p13-12(chr11:34168931-36820798)x3	LOC130005558, LOC130005559 +100 more	Copy number gain	See cases	GUncertain significance
Select item 59413	GRCh38/hg38 11p13-12(chr11:35103218-38791492)x1	CD44, CD44-AS1 +66 more	Copy number loss	See cases	GUncertain significance
Select item 57374	GRCh38/hg38 11p13-12(chr11:35135480-37649168)x1	CD44, CD44-AS1 +56 more	Copy number loss	See cases	GUncertain significance
Select item 58889	GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1	LOC130005622, LOC130005623 +224 more	Copy number loss	See cases	GPathogenic
Select item 149701	GRCh38/hg38 11p13-12(chr11:36007377-40318124)x1	COMMD9, IFTAP +36 more	Copy number loss	See cases	GLikely pathogenic
Select item 774623	NM_174902.4(LDLRAD3):c.63C>A (p.Pro21=)	LDLRAD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2310318	NM_174902.4(LDLRAD3):c.103T>G (p.Phe35Val)	LDLRAD3 (F35V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 710803	NM_174902.4(LDLRAD3):c.136G>A (p.Ala46Thr)	LDLRAD3 (A46T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2607443	NM_174902.4(LDLRAD3):c.184A>G (p.Lys62Glu)	LDLRAD3 (K62E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2621655	NM_174902.4(LDLRAD3):c.271T>C (p.Cys91Arg)	LDLRAD3 (C91R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2346746	NM_174902.4(LDLRAD3):c.349C>T (p.Arg117Cys)	LDLRAD3 (R117C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 726881	NM_174902.4(LDLRAD3):c.445A>C (p.Ser149Arg)	LDLRAD3 (S149R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2472861	NM_174902.4(LDLRAD3):c.457C>T (p.Pro153Ser)	LDLRAD3 (P104S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388662	NM_174902.4(LDLRAD3):c.622G>A (p.Val208Met)	LDLRAD3 (V87M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281734	NM_174902.4(LDLRAD3):c.643G>A (p.Val215Met)	LDLRAD3 (V94M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243029	NM_174902.4(LDLRAD3):c.719A>C (p.Gln240Pro)	LDLRAD3 (Q119P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304746	NM_174902.4(LDLRAD3):c.736G>A (p.Ala246Thr)	LDLRAD3 (A246T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2641724	NM_174902.4(LDLRAD3):c.807G>A (p.Ala269=)	LDLRAD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2309695	NM_174902.4(LDLRAD3):c.816C>G (p.Asp272Glu)	LDLRAD3 (D272E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524876	NM_174902.4(LDLRAD3):c.827C>T (p.Pro276Leu)	LDLRAD3 (P155L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 785887	NM_174902.4(LDLRAD3):c.865G>T (p.Asp289Tyr)	LDLRAD3 (D168Y +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2305989	NM_174902.4(LDLRAD3):c.962C>T (p.Pro321Leu)	LDLRAD3 (P272L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 714499	NM_174902.4(LDLRAD3):c.1024A>T (p.Thr342Ser)	LDLRAD3 (T293S +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1807696	GRCh37/hg19 11p13-12(chr11:31372721-38259316)x1	ABTB2, APIP +40 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527636	GRCh37/hg19 11p13-12(chr11:34189942-36857171)	ABTB2, APIP +16 more	Copy number gain	not specified	GUncertain significance
Select item 1527635	GRCh37/hg19 11p13-12(chr11:32782607-36404823)	ABTB2, APIP +26 more	Copy number gain	not specified	GUncertain significance
Select item 1341166	GRCh37/hg19 11p13(chr11:35879950-36090420)x1	LDLRAD3	Copy number loss	not provided	GUncertain significance
Select item 997825	Single allele	APOA1, APOA4 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815426	GRCh37/hg19 11p13(chr11:35782909-36024456)x3	LDLRAD3, TRIM44	Copy number gain	not provided	GUncertain significance
Select item 685267	GRCh37/hg19 11p13-12(chr11:34183318-36860753)x3	ABTB2, APIP +16 more	Copy number gain	not provided	GUncertain significance
Select item 443176	GRCh37/hg19 11p13-12(chr11:35126357-38814431)x1	LDLRAD3, CD44 +10 more	Copy number loss	See cases	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ABCC8, ABTB2 +364 more	Copy number gain	See cases	GPathogenic
Select item 441612	GRCh37/hg19 11p14.1-12(chr11:27588560-41770792)x1	APIP, BDNF +50 more	Copy number loss	See cases	GPathogenic
Select item 253513	GRCh37/hg19 11p14.1-12(chr11:30615127-40606139)x1	ABTB2, APIP +41 more	Copy number loss	See cases	GPathogenic

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Items: 39