Related gene-specific medical variations for Gene (Select 4035) - ClinVar

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Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3291359	NM_002332.3(LRP1):c.4283G>A (p.Arg1428Gln)	LOC126861539, LRP1 (R1428Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291354	NM_002332.3(LRP1):c.685C>A (p.Gln229Lys)	LRP1, LRP1-AS (Q229K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291353	NM_002332.3(LRP1):c.724G>A (p.Val242Ile)	LRP1, LRP1-AS (V242I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120127	NM_002332.3(LRP1):c.716A>G (p.Asn239Ser)	LRP1, LRP1-AS (N239S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120121	NM_002332.3(LRP1):c.548C>T (p.Pro183Leu)	LRP1, LRP1-AS (P183L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3120120	NM_002332.3(LRP1):c.4180C>G (p.Leu1394Val)	LOC126861539, LRP1 (L1394V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053640	NM_002332.3(LRP1):c.4361+6C>T	LOC126861539, LRP1	Single nucleotide variant (intron variant)	LRP1-related disorder	GLikely benign
Select item 3042317	NM_002332.3(LRP1):c.650C>T (p.Ala217Val)	LRP1, LRP1-AS (A217V)	Single nucleotide variant (missense variant)	LRP1-related disorder	GBenign
Select item 3034492	NM_002332.3(LRP1):c.471C>T (p.Tyr157=)	LRP1, LRP1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	LRP1-related disorder	GLikely benign
Select item 2784813	NM_002332.3(LRP1):c.4310A>G (p.Asn1437Ser)	LOC126861539, LRP1 (N1437S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2691745	NM_002332.3(LRP1):c.670C>G (p.Pro224Ala)	LRP1, LRP1-AS	Single nucleotide variant (missense variant)	Developmental dysplasia of the hip 3	GPathogenic
Select item 2524649	NM_002332.3(LRP1):c.635C>T (p.Thr212Met)	LRP1, LRP1-AS (T212M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2433515	NM_002332.3(LRP1):c.7896C>A (p.Asp2632Glu)	LRP1 (D2632E)	Single nucleotide variant (missense variant)	Keratosis pilaris atrophicans	GUncertain significance
Select item 2433514	NM_002332.3(LRP1):c.8999A>G (p.His3000Arg)	LRP1 (H3000R)	Single nucleotide variant (missense variant)	Keratosis pilaris atrophicans	GUncertain significance
Select item 2406868	NM_002332.3(LRP1):c.805G>A (p.Asp269Asn)	LRP1, LRP1-AS (D269N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386848	NM_002332.3(LRP1):c.4067G>A (p.Gly1356Asp)	LOC126861539, LRP1 (G1356D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248012	NM_002332.3(LRP1):c.713C>T (p.Ala238Val)	LRP1, LRP1-AS (A238V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217821	NM_002332.3(LRP1):c.838C>T (p.His280Tyr)	LRP1, LRP1-AS (H280Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1227748	NM_002332.3(LRP1):c.3992-231G>A	LOC126861539, LRP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 775310	NM_002332.3(LRP1):c.762G>A (p.Thr254=)	LRP1-AS, LRP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 771752	NM_002332.3(LRP1):c.4236C>T (p.Arg1412=)	LOC126861539, LRP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 734666	NM_002332.3(LRP1):c.543G>A (p.Leu181=)	LRP1, LRP1-AS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 733780	NM_002332.3(LRP1):c.8069-9G>A	LRP1, MIR1228	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 732612	NM_002332.3(LRP1):c.489A>G (p.Leu163=)	LRP1, LRP1-AS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 727364	NM_002332.3(LRP1):c.4311C>T (p.Asn1437=)	LOC126861539, LRP1	Single nucleotide variant (synonymous variant)	not provided	GBenign

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Links from Gene

Items: 25