Related gene-specific medical variations for Gene (Select 27044) - ClinVar

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Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3120687	NM_022143.5(LRRC4):c.853C>G (p.Leu285Val)	LRRC4, SND1 (L285V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120686	NM_022143.5(LRRC4):c.656G>C (p.Gly219Ala)	LRRC4, SND1 (G219A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120685	NM_022143.5(LRRC4):c.1690C>T (p.Arg564Trp)	LRRC4, SND1 (R564W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120684	NM_022143.5(LRRC4):c.1307C>G (p.Ser436Trp)	LRRC4, SND1 (S436W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120683	NM_022143.5(LRRC4):c.1223C>T (p.Thr408Ile)	LRRC4, SND1 (T408I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120682	NM_022143.5(LRRC4):c.1139C>A (p.Ser380Tyr)	LRRC4, SND1 (S380Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120681	NM_022143.5(LRRC4):c.1073C>T (p.Ala358Val)	LRRC4, SND1 (A358V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062960	GRCh37/hg19 7q32.1(chr7:127498536-127571670)x1	SND1	Copy number loss	not specified	GUncertain significance
Select item 2617615	NM_022143.5(LRRC4):c.1319A>G (p.Asn440Ser)	LRRC4, SND1 (N440S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594333	NM_022143.5(LRRC4):c.1397C>T (p.Pro466Leu)	LRRC4, SND1 (P466L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535345	NM_022143.5(LRRC4):c.1408A>C (p.Thr470Pro)	LRRC4, SND1 (T470P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527847	NM_022143.5(LRRC4):c.119C>T (p.Ser40Leu)	LRRC4, SND1 (S40L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463062	NM_022143.5(LRRC4):c.1451A>G (p.Gln484Arg)	LRRC4, SND1 (Q484R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455163	NM_022143.5(LRRC4):c.1716C>G (p.Asp572Glu)	LRRC4, SND1 (D572E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2429021	NM_022143.5(LRRC4):c.426_438delinsTGACAGTCA (p.Phe143fs)	LRRC4, SND1 (F143fs)	Indel (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2410029	NM_022143.5(LRRC4):c.734A>G (p.Lys245Arg)	LRRC4, SND1 (K245R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405846	NM_022143.5(LRRC4):c.1693A>G (p.Thr565Ala)	LRRC4, SND1 (T565A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390257	NM_022143.5(LRRC4):c.1409C>T (p.Thr470Met)	LRRC4, SND1 (T470M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374167	NM_022143.5(LRRC4):c.1190G>A (p.Arg397His)	LRRC4, SND1 (R397H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365808	NM_022143.5(LRRC4):c.1900A>G (p.Ile634Val)	LRRC4, SND1 (I634V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344314	NM_022143.5(LRRC4):c.1033C>G (p.Gln345Glu)	LRRC4, SND1 (Q345E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327451	NM_022143.5(LRRC4):c.1831A>C (p.Lys611Gln)	LRRC4, SND1 (K611Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294944	NM_022143.5(LRRC4):c.1795C>T (p.Pro599Ser)	LRRC4, SND1 (P599S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283949	NM_022143.5(LRRC4):c.1925C>T (p.Thr642Ile)	LRRC4, SND1 (T642I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265222	NM_022143.5(LRRC4):c.625A>G (p.Lys209Glu)	LRRC4, SND1 (K209E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1440757	NM_022143.5(LRRC4):c.1546C>T (p.Gln516Ter)	LRRC4, SND1 (Q516*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1266302	NM_022143.5(LRRC4):c.1110A>G (p.Ala370=)	LRRC4, SND1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1258265	NM_022143.5(LRRC4):c.837T>A (p.Ser279=)	LRRC4, SND1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 815031	GRCh37/hg19 7q32.1(chr7:127504680-127609433)x1	SND1	Copy number loss	not provided	GUncertain significance
Select item 781113	NM_022143.5(LRRC4):c.1686C>T (p.Ala562=)	LRRC4, SND1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 776259	NM_022143.5(LRRC4):c.1635T>C (p.Ile545=)	LRRC4, SND1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 720375	NM_022143.5(LRRC4):c.1114C>T (p.Leu372Phe)	LRRC4, SND1 (L372F)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 688243	GRCh37/hg19 7q32.1(chr7:127581140-127633926)x1	SND1	Copy number loss	not provided	GUncertain significance
Select item 687196	GRCh37/hg19 7q32.1(chr7:127461295-127504681)x1	SND1	Copy number loss	not provided	GUncertain significance
Select item 685902	GRCh37/hg19 7q32.1(chr7:127498536-127554871)x1	SND1	Copy number loss	not provided	GUncertain significance
Select item 559397	Single allele	SND1	Deletion	Absent speech +1 more	GUncertain significance
Select item 501459	NM_022143.5(LRRC4):c.895C>G (p.His299Asp)	LRRC4, SND1 (H299D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Links from Gene

Items: 37