NGRN[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057943, LOC130057944 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	LOC130057907, LOC130057908 +630 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	ABHD2, ACAN +611 more	Copy number gain	See cases	GPathogenic
Select item 153554	GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	ABHD2, ACAN +552 more	Copy number gain	See cases	GPathogenic
Select item 148189	GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	MIR11181, MIR1179 +517 more	Copy number gain	See cases	GPathogenic
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC130057997, LOC130057998 +500 more	Copy number gain	See cases	GPathogenic
Select item 154660	GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3	LOC130057929, LOC130057930 +311 more	Copy number gain	See cases	GPathogenic
Select item 58582	GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3	ADAMTS17, ALDH1A3 +422 more	Copy number gain	See cases	GPathogenic
Select item 146712	GRCh38/hg38 15q26.1(chr15:90216530-90767025)x1	BLM, CIB1 +44 more	Copy number loss	See cases	GUncertain significance
Select item 3199366	NM_001033088.3(NGRN):c.8T>G (p.Val3Gly)	CIB1, NGRN (V3G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2287395	NM_001033088.3(NGRN):c.62G>C (p.Gly21Ala)	NGRN (G21A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492754	NM_001033088.3(NGRN):c.79G>A (p.Val27Met)	NGRN (V27M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229867	NM_001033088.3(NGRN):c.83C>G (p.Ala28Gly)	NGRN (A28G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199322	NM_001033088.3(NGRN):c.134C>A (p.Pro45Gln)	NGRN (P45Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386621	NM_001033088.3(NGRN):c.226C>A (p.Pro76Thr)	NGRN (P76T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455170	NM_001033088.3(NGRN):c.245C>T (p.Thr82Ile)	NGRN (T82I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 776942	NM_001033088.3(NGRN):c.273A>C (p.Ile91=)	NGRN	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3299614	NM_001033088.3(NGRN):c.295C>G (p.Pro99Ala)	NGRN (P99A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2271063	NM_001033088.3(NGRN):c.347A>T (p.Asp116Val)	NGRN (D116V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331467	NM_001033088.3(NGRN):c.349G>A (p.Val117Met)	NGRN (V117M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199338	NM_001033088.3(NGRN):c.374A>C (p.Lys125Thr)	NGRN (K125T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 784619	NM_001033088.3(NGRN):c.415A>G (p.Lys139Glu)	NGRN (K139E)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2645705	NM_001033088.3(NGRN):c.460C>T (p.Arg154Trp)	NGRN (R154W)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3199343	NM_001033088.3(NGRN):c.466T>C (p.Ser156Pro)	NGRN (S156P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248369	NM_001033088.3(NGRN):c.539C>G (p.Ala180Gly)	NGRN (A180G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528335	NM_001033088.3(NGRN):c.614G>A (p.Arg205Lys)	NGRN (R205K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299613	NM_001033088.3(NGRN):c.752C>T (p.Ala251Val)	NGRN (A251V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239845	NM_001033088.3(NGRN):c.764G>C (p.Gly255Ala)	NGRN (G255A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 776943	NM_001033088.3(NGRN):c.800A>G (p.Asp267Gly)	NGRN (D267G)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3199359	NM_001033088.3(NGRN):c.821T>C (p.Val274Ala)	NGRN (V274A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3243685	NC_000015.9:g.(?_89379429)_(91312836_?)del	ABHD2, ACAN +29 more	Deletion	D-2-hydroxyglutaric aciduria 2 +1 more	GConflicting classifications of pathogenicity
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2498631	GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3	ABHD2, ACAN +86 more	Copy number gain	not provided	GPathogenic
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
Select item 2422891	NC_000015.9:g.(?_89379429)_(91565479_?)dup	ABHD2, ACAN +37 more	Duplication	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 1809424	GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	ABHD17C, ABHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 1340806	GRCh37/hg19 15q26.1(chr15:89520451-93926491)x1	ABHD2, ANPEP +41 more	Copy number loss	not provided	GPathogenic
Select item 1328111	GRCh37/hg19 15q25.3-26.2(chr15:88465861-94411846)x1	ABHD2, ACAN +50 more	Copy number loss	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 983158	GRCh37/hg19 15q25.3-26.3(chr15:86962053-102531392)x1	ABHD2, ACAN +77 more	Copy number loss	See cases	GPathogenic
Select item 815743	GRCh37/hg19 15q25.3-26.3(chr15:87189245-102429112)x1	ABHD2, ACAN +76 more	Copy number loss	not provided	GPathogenic
Select item 686177	GRCh37/hg19 15q26.1-26.3(chr15:90288175-102429112)x3	ADAMTS17, ALDH1A3 +54 more	Copy number gain	not provided	GPathogenic
Select item 625751	GRCh37/hg19 15q25.2-26.1(chr15:83883823-92165844)	ABHD2, ACAN +58 more	Copy number loss	not provided	GPathogenic
Select item 564229	GRCh37/hg19 15q26.1-26.3(chr15:89743929-102429112)x3	ABHD2, ADAMTS17 +66 more	Copy number gain	not provided	GPathogenic
Select item 564221	GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3	ABHD17C, ABHD2 +143 more	Copy number gain	not provided	GPathogenic
Select item 564214	GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	ABHD17C, ABHD2 +215 more	Copy number gain	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 443650	GRCh37/hg19 15q25.3-26.3(chr15:86899001-98734014)x3	ABHD2, ACAN +55 more	Copy number gain	See cases	GLikely pathogenic
Select item 443269	GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3	ABHD17C, ABHD2 +153 more	Copy number gain	See cases	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395560	GRCh37/hg19 15q25.3-26.3(chr15:86148286-102511616)x3	ABHD2, ACAN +79 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 395056	GRCh37/hg19 15q26.1-26.3(chr15:90346994-102354798)	ADAMTS17, ALDH1A3 +51 more	Copy number loss	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 394871	GRCh37/hg19 15q25.2-26.3(chr15:85089467-102495441)x3	ABHD2, ACAN +87 more	Copy number gain	See cases	GPathogenic
Select item 393972	GRCh37/hg19 15q25.3-26.1(chr15:88295992-94215607)x1	FANCI, FES +50 more	Copy number loss	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic

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Items: 61