ClinVar for Gene (Select 64101) - ClinVar

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Links from Gene

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3291633	NM_022143.5(LRRC4):c.242A>G (p.Asn81Ser)	LRRC4, SND1 (N81S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291632	NM_022143.5(LRRC4):c.1313A>T (p.Tyr438Phe)	LRRC4, SND1 (Y438F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291631	NM_022143.5(LRRC4):c.1784C>T (p.Ala595Val)	LRRC4, SND1 (A595V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3062992	GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1	AASS, AGBL3 +100 more	Copy number loss	not specified	GPathogenic
Select item 2685269	GRCh37/hg19 7q31.33-32.2(chr7:127076892-129405807)x1	AHCYL2, ARF5 +26 more	Copy number loss	not provided	GPathogenic
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)	SND1, LRRC4 (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 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527396	GRCh37/hg19 7q32.1(chr7:127311520-128041339)	IMPDH1, LEP +4 more	Copy number gain	not specified	GUncertain significance
Select item 1527395	GRCh37/hg19 7q32.1-34(chr7:127295698-139524358)	CHCHD3, CHRM2 +88 more	Copy number loss	not specified	GPathogenic
Select item 1527394	GRCh37/hg19 7q31.33-33(chr7:124103982-134693590)	BPGM, CALD1 +65 more	Copy number loss	not specified	GPathogenic
Select item 1527391	GRCh37/hg19 7q31.33-33(chr7:123967475-132729981)	ZC3HC1, ZNF800 +55 more	Copy number loss	not specified	GPathogenic
Select item 1527383	GRCh37/hg19 7q22.3-32.1(chr7:106984287-128949489)	PRRT4, PTPRZ1 +92 more	Copy number gain	not specified	GPathogenic
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 1340674	GRCh37/hg19 7q31.33-32.1(chr7:127050634-127826231)x3	ARF5, FSCN3 +4 more	Copy number gain	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 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
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 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 687212	GRCh37/hg19 7q31.32-32.2(chr7:121480906-129389003)x1	AASS, AHCYL2 +46 more	Copy number loss	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
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
Select item 443608	GRCh37/hg19 7q32.1(chr7:127186082-127723736)x3	ARF5, FSCN3 +4 more	Copy number gain	See cases	GUncertain significance
Select item 443049	GRCh37/hg19 7q32.1(chr7:127380514-127834435)x1	LRRC4, SND1	Copy number loss	See cases	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 253455	GRCh37/hg19 7q31.1-32.1(chr7:111613396-127897316)x1	AASS, RNU2-1 +57 more	Copy number loss	See cases	GPathogenic
Select item 154485	GRCh38/hg38 7q31.33-33(chr7:124170657-134163594)x1	COPG2, COPG2IT1 +342 more	Copy number loss	See cases	GPathogenic
Select item 154454	GRCh38/hg38 7q31.32-32.1(chr7:122018122-128907727)x1	AASS, ARF5 +163 more	Copy number loss	See cases	GPathogenic
Select item 153888	GRCh38/hg38 7q32.1(chr7:127817826-129237503)x3	IMPDH1, AHCYL2 +106 more	Copy number gain	See cases	GLikely benign
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	LOC129999373, LOC129999374 +492 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 60295	GRCh38/hg38 7q31.33-32.3(chr7:126859732-132750936)x1	LOC129999356, LOC129999357 +284 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 63