LRR1[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 152063	GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3	ABHD12B, ARF6 +394 more	Copy number gain	See cases	GLikely pathogenic
Select item 3291474	NM_152329.4(LRR1):c.35G>A (p.Arg12Gln)	LRR1 (R12Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553173	NM_152329.4(LRR1):c.38A>T (p.His13Leu)	LRR1 (H13L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374059	NM_152329.4(LRR1):c.149C>G (p.Ser50Cys)	LRR1 (S50C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524330	NM_152329.4(LRR1):c.185T>C (p.Leu62Pro)	LRR1 (L62P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600325	NM_152329.4(LRR1):c.244C>T (p.Arg82Trp)	LRR1 (R82W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605918	NM_152329.4(LRR1):c.254A>G (p.Glu85Gly)	LRR1 (E85G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120374	NM_152329.4(LRR1):c.257C>T (p.Pro86Leu)	LRR1 (P86L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211012	NM_152329.4(LRR1):c.279T>G (p.Ser93Arg)	LRR1 (S93R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291473	NM_152329.4(LRR1):c.299T>C (p.Leu100Ser)	LRR1 (L100S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3120375	NM_152329.4(LRR1):c.355C>T (p.Pro119Ser)	LRR1 (P119S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2538219	NM_152329.4(LRR1):c.382A>T (p.Thr128Ser)	LRR1 (T128S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2474722	NM_152329.4(LRR1):c.475C>T (p.Leu159Phe)	LRR1 (L159F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3120376	NM_152329.4(LRR1):c.574C>T (p.Leu192Phe)	LRR1 (L192F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2473408	NM_152329.4(LRR1):c.593A>C (p.Asp198Ala)	LRR1 (D198A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2479725	NM_152329.4(LRR1):c.659G>A (p.Cys220Tyr)	LRR1 (C220Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3120377	NM_152329.4(LRR1):c.703A>C (p.Lys235Gln)	LRR1 (K235Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2307262	NM_152329.4(LRR1):c.772G>A (p.Asp258Asn)	LRR1 (D258N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2207417	NM_152329.4(LRR1):c.803T>C (p.Ile268Thr)	LRR1 (I268T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2259942	NM_152329.4(LRR1):c.907G>A (p.Gly303Arg)	LRR1 (G303R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2529270	NM_152329.4(LRR1):c.930A>T (p.Lys310Asn)	LRR1 (K310N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2280629	NM_152329.4(LRR1):c.934C>T (p.Leu312Phe)	LRR1 (L312F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2358880	NM_152329.4(LRR1):c.991A>G (p.Ile331Val)	LRR1 (I331V)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3120369	NM_152329.4(LRR1):c.1013A>G (p.Tyr338Cys)	LRR1 (Y338C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344745	NM_152329.4(LRR1):c.1024A>G (p.Ile342Val)	LRR1 (I342V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376457	NM_152329.4(LRR1):c.1060G>A (p.Ala354Thr)	LRR1 (R113H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291475	NM_152329.4(LRR1):c.1146T>G (p.Thr382=)	LRR1 (C142G)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3120370	NM_152329.4(LRR1):c.1155A>G (p.Leu385=)	LRR1 (S145G)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 2297191	NM_152329.4(LRR1):c.1187T>G (p.Ile396Ser)	LRR1 (I396S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3120371	NM_152329.4(LRR1):c.1235T>C (p.Met412Thr)	LRR1 (M412T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 1527816	GRCh37/hg19 14q21.3(chr14:50073908-50127672)	DNAAF2, LRR1 +3 more	Copy number loss	not specified	GUncertain significance
Select item 1527812	GRCh37/hg19 14q21.2-21.3(chr14:45827312-50529931)	ARF6, DNAAF2 +14 more	Copy number gain	not specified	GUncertain significance
Select item 1412143	NC_000014.8:g.(?_50050385)_(50118115_?)dup	DNAAF2, LRR1 +5 more	Duplication	Primary ciliary dyskinesia	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ERG28, OR11G2 +635 more	Copy number gain	See cases	GPathogenic

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Items: 40