NRG1[gene] and "single gene"[properties] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 98381	NM_001159995.3(NRG1):c.37+564G>C	NRG1 (R4P)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 98380	NM_013962.3(NRG1):c.11G>A (p.Arg4Gln)	NRG1 (R4Q)	Single nucleotide variant (missense variant +1 more)	NRG1-related disorder	GBenign
Select item 3042743	NM_013962.3(NRG1):c.15C>G (p.Arg5=)	NRG1	Single nucleotide variant (synonymous variant +1 more)	NRG1-related disorder	GLikely benign
Select item 98382	NM_013962.3(NRG1):c.26G>A (p.Arg9His)	NRG1 (R9H)	Single nucleotide variant (missense variant +1 more)	NRG1-related disorder	GBenign
Select item 98383	NM_001159995.3(NRG1):c.37+596C>T	NRG1 (P15S)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 98384	NM_001159995.3(NRG1):c.37+661G>A	NRG1	Single nucleotide variant (synonymous variant +1 more)	not provided	Gnot provided
Select item 98385	NM_001159995.3(NRG1):c.37+676C>A	NRG1	Single nucleotide variant (synonymous variant +1 more)	not provided	Gnot provided
Select item 1328708	NM_001159995.3(NRG1):c.37+725G>A	NRG1 (G58R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 98386	NM_001159995.3(NRG1):c.37+744C>T	NRG1 (S64L)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 3056685	NM_013962.3(NRG1):c.224T>C (p.Leu75Pro)	NRG1 (L75P)	Single nucleotide variant (missense variant +1 more)	NRG1-related disorder	GBenign
Select item 3038071	NM_001159995.3(NRG1):c.37+853GGC[4]	NRG1 (A105del)	Microsatellite (inframe_deletion +1 more)	NRG1-related disorder	GLikely benign
Select item 98387	NM_001159995.3(NRG1):c.37+865G>A	NRG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 98388	NM_001159995.3(NRG1):c.37+903C>T	NRG1 (P117L)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 98389	NM_001159995.3(NRG1):c.37+913G>T	NRG1	Single nucleotide variant (synonymous variant +1 more)	not provided	Gnot provided
Select item 3055726	NM_013962.3(NRG1):c.473C>T (p.Ala158Val)	NRG1 (A158V)	Single nucleotide variant (missense variant +1 more)	NRG1-related disorder	GBenign
Select item 152291	GRCh38/hg38 8p12(chr8:31847822-31868891)x1	NRG1	Copy number loss	See cases	GLikely benign
Select item 98390	NM_013964.5(NRG1):c.30A>C (p.Lys10Asn)	NRG1 (K10N)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 3040281	NM_013964.5(NRG1):c.111C>G (p.Pro37=)	NRG1	Single nucleotide variant (synonymous variant +1 more)	NRG1-related disorder	GLikely benign
Select item 3059329	NM_013964.5(NRG1):c.113G>A (p.Arg38Gln)	NRG1 (R17Q +2 more)	Single nucleotide variant (missense variant +1 more)	NRG1-related disorder	GBenign
Select item 98391	NM_013964.5(NRG1):c.140C>T (p.Ser47Leu)	NRG1 (S262L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 749108	NM_013964.5(NRG1):c.141G>A (p.Ser47=)	NRG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 748694	NM_013964.5(NRG1):c.162C>T (p.Val54=)	NRG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 810273	NM_013964.5(NRG1):c.233A>T (p.Asn78Ile)	NRG1 (N293I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 739457	NM_013964.5(NRG1):c.282G>A (p.Lys94=)	NRG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1065609	NM_013964.5(NRG1):c.332T>C (p.Met111Thr)	NRG1 (M111T +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia	GAffects
Select item 780750	NM_013964.5(NRG1):c.414T>C (p.Gly138=)	NRG1	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign
Select item 3038833	NM_013964.5(NRG1):c.502+30933C>A	NRG1 (A34E)	Single nucleotide variant (missense variant +1 more)	NRG1-related disorder	GBenign
Select item 3060573	NM_013964.5(NRG1):c.502+30968G>A	NRG1 (G46R)	Single nucleotide variant (missense variant +1 more)	NRG1-related disorder	GBenign
Select item 2658528	NM_013964.5(NRG1):c.502+31211G>C	NRG1 (A127P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 218702	NM_013964.5(NRG1):c.502+31229G>C	NRG1 (V133L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 740327	NM_013964.5(NRG1):c.600A>G (p.Lys200=)	NRG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 98392	NM_013964.5(NRG1):c.679A>G (p.Met227Val)	NRG1 (M73V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 1285094	NM_013964.5(NRG1):c.781G>T (p.Val261Leu)	NRG1 (V104L +9 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 98393	NM_013964.5(NRG1):c.819G>T (p.Lys273Asn)	NRG1 (K240N +9 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98394	NM_013964.5(NRG1):c.835C>G (p.Arg279Gly)	NRG1 (R246G +9 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98395	NM_013964.5(NRG1):c.857G>A (p.Arg286Gln)	NRG1 (R253Q +9 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 3060016	NM_013964.5(NRG1):c.866T>C (p.Met289Thr)	NRG1 (M132T +9 more)	Single nucleotide variant (missense variant)	NRG1-related disorder	GBenign
Select item 98396	NM_013964.5(NRG1):c.893A>G (p.His298Arg)	NRG1 (H265R +9 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98397	NM_013964.5(NRG1):c.1005T>C (p.Ser335=)	NRG1	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 98398	NM_013964.5(NRG1):c.1322C>T (p.Thr441Met)	NRG1 (T408M +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 712801	NM_013964.5(NRG1):c.1365C>T (p.Pro455=)	NRG1	Single nucleotide variant (synonymous variant +1 more)	NRG1-related disorder +1 more	GBenign
Select item 739170	NM_013964.5(NRG1):c.1380G>A (p.Thr460=)	NRG1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 98399	NM_013964.5(NRG1):c.1538C>T (p.Pro513Leu)	NRG1 (P480L +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 1285009	NM_013964.5(NRG1):c.1633C>T (p.Arg545Trp)	NRG1 (R287W +8 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 786558	NM_013964.5(NRG1):c.1634G>A (p.Arg545Gln)	NRG1 (R545Q +8 more)	Single nucleotide variant (missense variant +1 more)	NRG1-related disorder +1 more	GBenign
Select item 3039316	NM_013964.5(NRG1):c.1640C>T (p.Ala547Val)	NRG1 (A289V +8 more)	Single nucleotide variant (missense variant +1 more)	NRG1-related disorder	GLikely benign
Select item 3038557	NM_013964.5(NRG1):c.1808C>A (p.Pro603His)	NRG1 (P345H +8 more)	Single nucleotide variant (missense variant +1 more)	NRG1-related disorder	GBenign
Select item 3059231	NM_013964.5(NRG1):c.1847G>T (p.Gly616Val)	NRG1 (G358V +8 more)	Single nucleotide variant (missense variant +1 more)	NRG1-related disorder	GBenign
Select item 1808361	GRCh37/hg19 8p12(chr8:31406614-32010201)x4	NRG1	Copy number gain	not provided	GUncertain significance
Select item 815118	GRCh37/hg19 8p12(chr8:32612883-32834544)x3	NRG1	Copy number gain	not provided	GUncertain significance
Select item 563494	GRCh37/hg19 8p12(chr8:32356612-32908980)x1	NRG1	Copy number loss	not provided	GUncertain significance

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Items: 51