NHLRC2[gene] - ClinVar

Search results

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 155304	GRCh38/hg38 10q24.32-25.3(chr10:102732173-114085105)x1	LOC124416905, LOC124416906 +318 more	Copy number loss	See cases	GPathogenic
Select item 58782	GRCh38/hg38 10q25.1-26.11(chr10:107191100-118761489)x1	ABLIM1, ACSL5 +308 more	Copy number loss	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 151000	GRCh38/hg38 10q25.2-25.3(chr10:110804735-114884010)x1	ABLIM1, ACSL5 +134 more	Copy number loss	See cases	GLikely pathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 146710	GRCh38/hg38 10q25.2-25.3(chr10:112074094-115537174)x1	LOC130004765, LOC130004766 +109 more	Copy number loss	See cases	GPathogenic
Select item 148437	GRCh38/hg38 10q25.2-26.12(chr10:112701186-120970617)x3	LOC126861050, LOC126861051 +248 more	Copy number gain	See cases	GLikely pathogenic
Select item 1679135	NM_198514.4(NHLRC2):c.1A>G (p.Met1Val)	LOC130004775, NHLRC2 (M1V)	Single nucleotide variant (missense variant +1 more)	Fibrosis, neurodegeneration, and cerebral angiomatosis	GConflicting classifications of pathogenicity
Select item 3348684	NM_198514.4(NHLRC2):c.43C>G (p.Leu15Val)	LOC130004775, NHLRC2 (L15V)	Single nucleotide variant (missense variant)	NHLRC2-related disorder	GLikely benign
Select item 3199794	NM_198514.4(NHLRC2):c.59C>T (p.Ser20Leu)	LOC130004775, NHLRC2 (S20L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1727064	NM_198514.4(NHLRC2):c.97_99del (p.Glu33del)	LOC130004775, NHLRC2 (E33del)	Deletion (inframe_deletion)	Fibrosis, neurodegeneration, and cerebral angiomatosis	GUncertain significance
Select item 2473807	NM_198514.4(NHLRC2):c.116A>G (p.Tyr39Cys)	LOC130004775, NHLRC2 (Y39C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335159	NM_198514.4(NHLRC2):c.119A>G (p.Gln40Arg)	LOC130004775, NHLRC2 (Q40R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1319311	NM_198514.4(NHLRC2):c.148C>T (p.Gln50Ter)	LOC130004775, NHLRC2 (Q50*)	Single nucleotide variant (nonsense)	Fibrosis, neurodegeneration, and cerebral angiomatosis +1 more	GPathogenic
Select item 3026153	NM_198514.4(NHLRC2):c.159A>T (p.Ser53=)	LOC130004775, NHLRC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2267695	NM_198514.4(NHLRC2):c.217T>A (p.Tyr73Asn)	NHLRC2 (Y73N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1279930	NM_198514.4(NHLRC2):c.224A>T (p.Asp75Val)	NHLRC2	Single nucleotide variant (missense variant)	Fibrosis, neurodegeneration, and cerebral angiomatosis	GPathogenic
Select item 3199793	NM_198514.4(NHLRC2):c.244G>C (p.Val82Leu)	NHLRC2 (V82L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1690893	NM_198514.4(NHLRC2):c.278_279del (p.Cys93fs)	NHLRC2 (C93fs)	Deletion (frameshift variant)	See cases	GLikely pathogenic
Select item 2261127	NM_198514.4(NHLRC2):c.344T>C (p.Ile115Thr)	NHLRC2 (I115T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3350913	NM_198514.4(NHLRC2):c.360G>A (p.Ser120=)	NHLRC2	Single nucleotide variant (synonymous variant)	NHLRC2-related disorder	GLikely benign
Select item 2640857	NM_198514.4(NHLRC2):c.378A>G (p.Glu126=)	NHLRC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1279932	NM_198514.4(NHLRC2):c.428A>C (p.His143Pro)	NHLRC2	Single nucleotide variant (missense variant)	Fibrosis, neurodegeneration, and cerebral angiomatosis	GPathogenic
Select item 2295859	NM_198514.4(NHLRC2):c.433A>G (p.Met145Val)	NHLRC2 (M145V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 599377	NM_198514.4(NHLRC2):c.442G>T (p.Asp148Tyr)	NHLRC2 (D148Y)	Single nucleotide variant (missense variant)	Fibrosis, neurodegeneration, and cerebral angiomatosis +1 more	GPathogenic
Select item 2274045	NM_198514.4(NHLRC2):c.454A>G (p.Ser152Gly)	NHLRC2 (S152G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3048149	NM_198514.4(NHLRC2):c.507A>T (p.Gly169=)	NHLRC2	Single nucleotide variant (synonymous variant)	NHLRC2-related disorder	GLikely benign
Select item 2297598	NM_198514.4(NHLRC2):c.545G>A (p.Gly182Glu)	NHLRC2 (G182E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487414	NM_198514.4(NHLRC2):c.577A>G (p.Ile193Val)	NHLRC2 (I193V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 599378	NM_198514.4(NHLRC2):c.601_602del (p.Arg201fs)	NHLRC2 (R201fs)	Deletion (frameshift variant)	Fibrosis, neurodegeneration, and cerebral angiomatosis	GPathogenic
Select item 2282517	NM_198514.4(NHLRC2):c.607C>A (p.Gln203Lys)	NHLRC2 (Q203K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299637	NM_198514.4(NHLRC2):c.608A>G (p.Gln203Arg)	NHLRC2 (Q203R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458500	NM_198514.4(NHLRC2):c.803G>C (p.Arg268Thr)	NHLRC2 (R268T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3034232	NM_198514.4(NHLRC2):c.853G>A (p.Ala285Thr)	NHLRC2 (A285T)	Single nucleotide variant (missense variant)	NHLRC2-related disorder	GBenign
Select item 3041791	NM_198514.4(NHLRC2):c.909+6T>A	NHLRC2	Single nucleotide variant (intron variant)	NHLRC2-related disorder	GBenign
Select item 3059194	NM_198514.4(NHLRC2):c.940G>A (p.Val314Ile)	NHLRC2 (V314I)	Single nucleotide variant (missense variant)	NHLRC2-related disorder	GBenign
Select item 2211692	NM_198514.4(NHLRC2):c.960A>C (p.Gln320His)	NHLRC2 (Q320H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1279931	NM_198514.4(NHLRC2):c.1013C>T (p.Pro338Leu)	NHLRC2	Single nucleotide variant (missense variant)	Fibrosis, neurodegeneration, and cerebral angiomatosis	GPathogenic
Select item 2465979	NM_198514.4(NHLRC2):c.1021G>A (p.Val341Ile)	NHLRC2 (V341I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1727062	NM_198514.4(NHLRC2):c.1094A>C (p.Gln365Pro)	NHLRC2 (Q365P)	Single nucleotide variant (missense variant)	Fibrosis, neurodegeneration, and cerebral angiomatosis	GUncertain significance
Select item 3250568	NM_198514.4(NHLRC2):c.1104A>T (p.Ala368=)	NHLRC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1675436	NM_198514.4(NHLRC2):c.1115A>G (p.Asp372Gly)	NHLRC2 (D372G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3199786	NM_198514.4(NHLRC2):c.1147A>T (p.Thr383Ser)	NHLRC2 (T383S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3040839	NM_198514.4(NHLRC2):c.1200C>T (p.Asn400=)	NHLRC2	Single nucleotide variant (synonymous variant)	NHLRC2-related disorder	GLikely benign
Select item 1027927	NM_198514.4(NHLRC2):c.1348G>T (p.Val450Leu)	NHLRC2 (V450L)	Single nucleotide variant (missense variant)	Fibrosis, neurodegeneration, and cerebral angiomatosis	GUncertain significance
Select item 2408781	NM_198514.4(NHLRC2):c.1349T>C (p.Val450Ala)	NHLRC2 (V450A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378517	NM_198514.4(NHLRC2):c.1358A>G (p.Glu453Gly)	NHLRC2 (E453G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3053244	NM_198514.4(NHLRC2):c.1372-7del	NHLRC2	Deletion (intron variant)	NHLRC2-related disorder	GLikely benign
Select item 1727063	NM_198514.4(NHLRC2):c.1385T>C (p.Phe462Ser)	NHLRC2 (F462S)	Single nucleotide variant (missense variant)	Fibrosis, neurodegeneration, and cerebral angiomatosis	GUncertain significance
Select item 2307679	NM_198514.4(NHLRC2):c.1475C>G (p.Ala492Gly)	NHLRC2 (A492G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3045287	NM_198514.4(NHLRC2):c.1494+8G>A	NHLRC2	Single nucleotide variant (intron variant)	NHLRC2-related disorder	GBenign
Select item 3199787	NM_198514.4(NHLRC2):c.1556A>G (p.Asn519Ser)	NHLRC2 (N519S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3299638	NM_198514.4(NHLRC2):c.1580C>T (p.Thr527Ile)	NHLRC2 (T527I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299636	NM_198514.4(NHLRC2):c.1580C>A (p.Thr527Lys)	NHLRC2 (T527K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399006	NM_198514.4(NHLRC2):c.1596T>G (p.Asn532Lys)	NHLRC2 (N532K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463146	NM_198514.4(NHLRC2):c.1645G>A (p.Ala549Thr)	NHLRC2 (A549T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3049840	NM_198514.4(NHLRC2):c.1668T>C (p.Ile556=)	NHLRC2	Single nucleotide variant (synonymous variant)	NHLRC2-related disorder	GLikely benign
Select item 3041775	NM_198514.4(NHLRC2):c.1680T>C (p.Asp560=)	NHLRC2	Single nucleotide variant (synonymous variant)	NHLRC2-related disorder	GBenign
Select item 3042036	NM_198514.4(NHLRC2):c.1684G>A (p.Glu562Lys)	NHLRC2 (E562K)	Single nucleotide variant (missense variant)	NHLRC2-related disorder	GBenign
Select item 1727060	NM_198514.4(NHLRC2):c.1750del (p.Phe583_Leu584insTer)	NHLRC2	Deletion (nonsense)	Fibrosis, neurodegeneration, and cerebral angiomatosis	GLikely pathogenic
Select item 1331528	NM_198514.4(NHLRC2):c.1751T>C (p.Leu584Pro)	NHLRC2 (L584P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1331534	NM_198514.4(NHLRC2):c.1823C>T (p.Ala608Val)	NHLRC2 (A608V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3199788	NM_198514.4(NHLRC2):c.1873G>A (p.Gly625Arg)	NHLRC2 (G625R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238273	NM_198514.4(NHLRC2):c.1894G>C (p.Val632Leu)	NHLRC2 (V632L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3045669	NM_198514.4(NHLRC2):c.1925-9G>T	NHLRC2	Single nucleotide variant (intron variant)	NHLRC2-related disorder	GLikely benign
Select item 3199789	NM_198514.4(NHLRC2):c.1928A>G (p.Asn643Ser)	NHLRC2 (N643S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299639	NM_198514.4(NHLRC2):c.1966A>G (p.Ile656Val)	NHLRC2 (I656V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3199790	NM_198514.4(NHLRC2):c.1967T>C (p.Ile656Thr)	NHLRC2 (I656T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3199791	NM_198514.4(NHLRC2):c.1969G>A (p.Glu657Lys)	NHLRC2 (E657K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3039179	NM_198514.4(NHLRC2):c.2035A>G (p.Ile679Val)	NHLRC2 (I679V)	Single nucleotide variant (missense variant)	NHLRC2-related disorder	GBenign
Select item 2640858	NM_198514.4(NHLRC2):c.2046C>T (p.Val682=)	NHLRC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2547234	NM_198514.4(NHLRC2):c.2047A>T (p.Ser683Cys)	NHLRC2 (S683C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288454	NM_198514.4(NHLRC2):c.2048G>C (p.Ser683Thr)	NHLRC2 (S683T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299034	NM_198514.4(NHLRC2):c.2062T>C (p.Tyr688His)	NHLRC2 (Y688H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1727061	NM_198514.4(NHLRC2):c.2074G>T (p.Asp692Tyr)	NHLRC2 (D692Y)	Single nucleotide variant (missense variant)	Fibrosis, neurodegeneration, and cerebral angiomatosis	GUncertain significance
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063162	GRCh37/hg19 10q25.1-26.13(chr10:107129993-123817654)x3	ABLIM1, ACSL5 +70 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684621	GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	ABLIM1, ABRAXAS2 +117 more	Copy number gain	not provided	GPathogenic
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1340153	GRCh37/hg19 10q25.1-25.3(chr10:107092654-117852548)x1	ABLIM1, ACSL5 +32 more	Copy number loss	not provided	GUncertain significance
Select item 687114	GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3	ABLIM1, ABRAXAS2 +130 more	Copy number gain	not provided	GPathogenic
Select item 625657	GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not provided	GPathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563801	GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3	ABLIM1, ABRAXAS2 +157 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443838	GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3	ABLIM1, ABRAXAS2 +151 more	Copy number gain	See cases	GPathogenic
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic

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Items: 97