NRG4[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057806, LOC130057807 +1763 more	Copy number gain	See cases	GPathogenic
Select item 153193	GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	ACSBG1, ADPGK +487 more	Copy number loss	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	ABHD17C, ABHD2 +1244 more	Copy number gain	See cases	GPathogenic
Select item 545183	Single allele	MIR6882, MPI +258 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 59384	GRCh38/hg38 15q24.2(chr15:75596961-76049787)x1	CIMAP1C, CSPG4 +22 more	Copy number loss	See cases	GPathogenic
Select item 2613164	NM_138573.4(NRG4):c.310A>G (p.Ser104Gly)	NRG4 (S104G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202124	NM_138573.4(NRG4):c.308C>T (p.Thr103Met)	NRG4 (T103M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202123	NM_138573.4(NRG4):c.269G>C (p.Arg90Thr)	NRG4 (R90T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202122	NM_138573.4(NRG4):c.233C>A (p.Ala78Asp)	NRG4 (A78D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354099	NM_138573.4(NRG4):c.167A>C (p.Gln56Pro)	NRG4 (Q56P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238375	NM_138573.4(NRG4):c.134G>T (p.Cys45Phe)	NRG4 (C45F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783718	NM_138573.4(NRG4):c.109G>A (p.Val37Ile)	NRG4 (V37I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 147979	GRCh38/hg38 15q24.2-25.1(chr15:76006154-79982417)x1	LOC130057730, LOC132090332 +175 more	Copy number loss	See cases	GPathogenic
Select item 2537633	NM_138573.4(NRG4):c.89C>T (p.Pro30Leu)	NRG4 (P30L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379747	NM_138573.4(NRG4):c.68G>T (p.Cys23Phe)	NRG4 (C23F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	BLM, BNC1 +209 more	Copy number gain	not provided	GPathogenic
Select item 1808735	GRCh37/hg19 15q24.1-24.3(chr15:74353736-77884397)x1	ARID3B, C15orf39 +48 more	Copy number loss	not provided	GPathogenic
Select item 1808414	GRCh37/hg19 15q24.2-24.3(chr15:76295806-76602024)x3	ETFA, NRG4 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980534	GRCh37/hg19 15q24.2-24.3(chr15:75920400-76632051)x3	TMEM266, CSPG4 +9 more	Copy number gain	not provided	GUncertain significance
Select item 688262	GRCh37/hg19 15q24.2(chr15:76063129-76415430)x3	FBXO22, FBXO22-AS1 +3 more	Copy number gain	not provided	GUncertain significance
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	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
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)	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CSK, CSNK1G1 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	TRPM7, TSPAN3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	SLC24A1, SLC28A1 +310 more	Copy number gain	not provided	GLikely pathogenic
Select item 254015	GRCh37/hg19 15q24.1-24.3(chr15:74368270-78122737)x3	ARID3B, C15orf39 +49 more	Copy number gain	See cases	GUncertain significance
Select item 254010	GRCh37/hg19 15q24.2-24.3(chr15:76223116-77023288)x3	FBXO22, ISL2 +5 more	Copy number gain	See cases	GUncertain significance
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +279 more	Copy number gain	See cases	GPathogenic

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Items: 33