ClinVar for Gene (Select 388633) - ClinVar

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Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3290406	NM_001010978.4(LDLRAD1):c.232A>G (p.Arg78Gly)	LDLRAD1 (R35G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3290405	NM_001010978.4(LDLRAD1):c.485C>G (p.Pro162Arg)	LDLRAD1 (P119R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118271	NM_001010978.4(LDLRAD1):c.82G>A (p.Gly28Ser)	LDLRAD1 (G28S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3118270	NM_001010978.4(LDLRAD1):c.597G>C (p.Glu199Asp)	LDLRAD1 (E156D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118268	NM_001010978.4(LDLRAD1):c.440G>A (p.Cys147Tyr)	LDLRAD1 (C104Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118267	NM_001010978.4(LDLRAD1):c.431C>T (p.Thr144Ile)	LDLRAD1 (T101I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3118266	NM_001010978.4(LDLRAD1):c.32G>T (p.Gly11Val)	LDLRAD1 (G11V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062755	GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3	ACOT11, AGBL4 +72 more	Copy number gain	not specified	GLikely pathogenic
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2602161	NM_001010978.4(LDLRAD1):c.554T>C (p.Leu185Pro)	LDLRAD1 (L142P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592724	NM_001010978.4(LDLRAD1):c.442G>A (p.Gly148Arg)	LDLRAD1 (G109R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524312	NM_001010978.4(LDLRAD1):c.16C>T (p.Pro6Ser)	LDLRAD1 (P6S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463054	NM_001010978.4(LDLRAD1):c.16C>G (p.Pro6Ala)	LDLRAD1 (P27R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373194	NM_001010978.4(LDLRAD1):c.134T>G (p.Leu45Arg)	LDLRAD1 (L45R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345993	NM_001010978.4(LDLRAD1):c.506G>A (p.Arg169His)	LDLRAD1 (R80H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2294313	NM_001010978.4(LDLRAD1):c.514T>C (p.Ser172Pro)	LDLRAD1 (S83P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2282568	NM_001010978.4(LDLRAD1):c.467C>T (p.Pro156Leu)	LDLRAD1 (P117L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211495	NM_001010978.4(LDLRAD1):c.560G>A (p.Arg187His)	LDLRAD1 (R148H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1047872	GRCh37/hg19 1p32.3-32.2(chr1:51941877-56688514)	CYB5RL, EPS15 +49 more	Copy number loss	Abnormality of the kidney +1 more	GPathogenic
Select item 981205	GRCh37/hg19 1p32.3-31.3(chr1:53675707-66644963)x1	L1TD1, LDLRAD1 +67 more	Copy number loss	Chromosome 1p32-p31 deletion syndrome	GPathogenic
Select item 685398	GRCh37/hg19 1p32.3(chr1:54002963-54575440)x3	DIO1, GLIS1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394094	GRCh37/hg19 1p32.3(chr1:51729573-55164001)x1	LRP8, LRRC42 +42 more	Copy number loss	See cases	GPathogenic
Select item 153752	GRCh38/hg38 1p32.3(chr1:53823735-54328113)x3	CDCP2, CYB5RL +27 more	Copy number gain	See cases	GUncertain significance
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	ACOT11, AK4 +421 more	Copy number gain	See cases	GLikely pathogenic
Select item 150647	GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1	ACOT11, ALG6 +280 more	Copy number loss	See cases	GPathogenic
Select item 59968	GRCh38/hg38 1p32.3-31.3(chr1:53738212-61439648)x1	ACOT11, BSND +205 more	Copy number loss	See cases	GPathogenic
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	LOC129388541, LOC129388542 +570 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 30