ClinVar for Gene (Select 54674) - ClinVar

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Links from Gene

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685262	GRCh37/hg19 7q31.1-31.2(chr7:108967155-116850770)x1	TES, TFEC +20 more	Copy number loss	not provided	GPathogenic
Select item 2612044	NM_001099658.2(LRRN3):c.1243A>G (p.Met415Val)	IMMP2L, LRRN3 (M415V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2605096	NM_001099658.2(LRRN3):c.781A>C (p.Asn261His)	IMMP2L, LRRN3 (N261H)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2548260	NM_001099658.2(LRRN3):c.1090A>G (p.Ser364Gly)	IMMP2L, LRRN3 (S364G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2528268	NM_001099658.2(LRRN3):c.2075C>A (p.Thr692Lys)	IMMP2L, LRRN3 (T692K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2524316	NM_001099658.2(LRRN3):c.1304A>C (p.Glu435Ala)	IMMP2L, LRRN3 (E435A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2521038	NM_001099658.2(LRRN3):c.1976A>G (p.His659Arg)	IMMP2L, LRRN3 (H659R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2478586	NM_001099658.2(LRRN3):c.1484C>T (p.Thr495Ile)	IMMP2L, LRRN3 (T495I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2460099	NM_001099658.2(LRRN3):c.1898T>G (p.Leu633Arg)	IMMP2L, LRRN3 (L633R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2455986	NM_001099658.2(LRRN3):c.476C>G (p.Ala159Gly)	IMMP2L, LRRN3 (A159G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2395160	NM_001099658.2(LRRN3):c.827G>A (p.Arg276Gln)	IMMP2L, LRRN3 (R276Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2388921	NM_001099658.2(LRRN3):c.1510G>A (p.Ala504Thr)	LRRN3, IMMP2L (A504T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2385253	NM_001099658.2(LRRN3):c.7G>T (p.Asp3Tyr)	IMMP2L, LRRN3 (D3Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2359640	NM_001099658.2(LRRN3):c.265G>A (p.Asp89Asn)	IMMP2L, LRRN3 (D89N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2336408	NM_001099658.2(LRRN3):c.1529T>C (p.Met510Thr)	LRRN3, IMMP2L (M510T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2324742	NM_001099658.2(LRRN3):c.91C>T (p.Arg31Trp)	LRRN3, IMMP2L (R31W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2324183	NM_001099658.2(LRRN3):c.1853A>C (p.Gln618Pro)	LRRN3, IMMP2L (Q618P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2318246	NM_001099658.2(LRRN3):c.862G>C (p.Glu288Gln)	IMMP2L, LRRN3 (E288Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2312898	NM_001099658.2(LRRN3):c.1594A>C (p.Ile532Leu)	LRRN3, IMMP2L (I532L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2288227	NM_001099658.2(LRRN3):c.1199C>A (p.Pro400His)	LRRN3, IMMP2L (P400H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2257866	NM_001099658.2(LRRN3):c.328A>G (p.Ile110Val)	LRRN3, IMMP2L (I110V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2247463	NM_001099658.2(LRRN3):c.2036C>A (p.Pro679His)	LRRN3, IMMP2L (P679H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2222726	NM_001099658.2(LRRN3):c.1358A>T (p.Glu453Val)	IMMP2L, LRRN3 (E453V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2222571	NM_001099658.2(LRRN3):c.13C>A (p.Pro5Thr)	LRRN3, IMMP2L (P5T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 1527383	GRCh37/hg19 7q22.3-32.1(chr7:106984287-128949489)	PRRT4, PTPRZ1 +92 more	Copy number gain	not specified	GPathogenic
Select item 1527380	GRCh37/hg19 7q22.1-31.31(chr7:100676872-119156160)	ALKBH4, ANKRD7 +95 more	Copy number loss	not specified	GPathogenic
Select item 1527379	GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308)	ACHE, ACTL6B +123 more	Copy number loss	not specified	GPathogenic
Select item 979639	GRCh37/hg19 7q31.1(chr7:109241451-110894338)x3	LRRN3, IMMP2L	Copy number gain	not provided	GUncertain significance
Select item 815018	GRCh37/hg19 7q31.1(chr7:109594999-113885203)x3	LSMEM1, BMT2 +9 more	Copy number gain	not provided	GLikely pathogenic
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 815014	GRCh37/hg19 7q22.3-31.32(chr7:106617406-123217914)x1	TMEM168, LAMB4 +59 more	Copy number loss	not provided	GPathogenic
Select item 788359	NM_001099658.2(LRRN3):c.675A>G (p.Thr225=)	IMMP2L, LRRN3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 778353	NM_001099658.2(LRRN3):c.92G>A (p.Arg31Gln)	IMMP2L, LRRN3 (R31Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 776255	NM_001099658.2(LRRN3):c.1131T>C (p.Arg377=)	IMMP2L, LRRN3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 776254	NM_001099658.2(LRRN3):c.900C>T (p.Ile300=)	IMMP2L, LRRN3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 689221	GRCh37/hg19 7q31.1(chr7:110468987-110810118)x1	IMMP2L, LRRN3	Copy number loss	not provided	GUncertain significance
Select item 689016	GRCh37/hg19 7q31.1(chr7:109939104-113649529)x1	BMT2, DOCK4 +8 more	Copy number loss	not provided	GUncertain significance
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 686475	GRCh37/hg19 7q31.1(chr7:107786826-112356275)x1	DNAJB9, DOCK4 +9 more	Copy number loss	not provided	GUncertain significance
Select item 686057	GRCh37/hg19 7q31.1-31.31(chr7:107410314-117825549)x1	ASZ1, BMT2 +34 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 545340	Single allele	DOCK4, DOCK4-AS1 +29 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 443343	GRCh37/hg19 7q31.1(chr7:110322161-112423237)x3	DOCK4, IFRD1 +5 more	Copy number gain	See cases	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395553	GRCh37/hg19 7q31.1(chr7:110674808-110839833)x1	IMMP2L, LRRN3	Copy number loss	See cases	GLikely benign
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 242956	NC_000007.13:g.109049659_111130658del	LRRN3, IMMP2L	Deletion	Childhood apraxia of speech	GPathogenic
Select item 155379	GRCh38/hg38 7q31.1(chr7:111096212-111416813)x1	IMMP2L, LOC129389844 +3 more	Copy number loss	See cases	GUncertain significance
Select item 152068	GRCh38/hg38 7q31.1(chr7:110967534-111452434)x1	IMMP2L, LOC129389844 +3 more	Copy number loss	See cases	GUncertain significance
Select item 148536	GRCh38/hg38 7q31.1(chr7:110924745-111350871)x1	IMMP2L, LOC129389844 +3 more	Copy number loss	See cases	GUncertain significance
Select item 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129998995, LOC129998996 +2212 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 60284	GRCh38/hg38 7q22.3-31.1(chr7:106261939-111228036)x1	DUS4L, DUS4L-BCAP29 +92 more	Copy number loss	See cases	GPathogenic
Select item 57255	GRCh38/hg38 7q22.1-31.1(chr7:101807149-112414850)x1	ALKBH4, ARMC10 +292 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 59