Related gene-specific medical variations for Gene (Select 3084) - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3039711	NM_013964.5(NRG1):c.1062-4G>A	LOC126860346, NRG1	Single nucleotide variant (intron variant)	NRG1-related condition	GBenign
Select item 3039681	NM_013964.5(NRG1):c.1096G>A (p.Glu366Lys)	LOC126860346, NRG1 (E363K +9 more)	Single nucleotide variant (missense variant)	NRG1-related condition	GBenign
Select item 1808361	GRCh37/hg19 8p12(chr8:31406614-32010201)x4	NRG1	Copy number gain	not provided	GUncertain significance
Select item 1285117	NM_013964.5(NRG1):c.1062-5C>T	LOC126860346, NRG1	Single nucleotide variant (intron variant)	NRG1-related condition +1 more	GBenign
Select item 815118	GRCh37/hg19 8p12(chr8:32612883-32834544)x3	NRG1	Copy number gain	not provided	GUncertain significance
Select item 810274	NM_013964.5(NRG1):c.1246C>T (p.Arg416Ter)	LOC126860346, NRG1 (R259* +9 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 799093	NM_013964.5(NRG1):c.1158G>T (p.Gly386=)	LOC126860346, NRG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 749866	NM_013964.5(NRG1):c.1095C>T (p.Ser365=)	LOC126860346, NRG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 747377	NM_013964.5(NRG1):c.1104C>T (p.His368=)	LOC126860346, NRG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 730052	NM_013964.5(NRG1):c.1232C>G (p.Thr411Ser)	LOC126860346, NRG1 (T411S +9 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 563494	GRCh37/hg19 8p12(chr8:32356612-32908980)x1	NRG1	Copy number loss	not provided	GUncertain significance
Select item 152291	GRCh38/hg38 8p12(chr8:31847822-31868891)x1	NRG1	Copy number loss	See cases	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 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 98397	NM_013964.5(NRG1):c.1005T>C (p.Ser335=)	NRG1	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
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 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 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 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 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 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 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 98389	NM_001159995.3(NRG1):c.37+913G>T	NRG1	Single nucleotide variant (synonymous variant +1 more)	not provided	Gnot provided
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 98386	NM_001159995.3(NRG1):c.37+744C>T	NRG1 (S64L)	Single nucleotide variant (missense 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 98384	NM_001159995.3(NRG1):c.37+661G>A	NRG1	Single nucleotide variant (synonymous variant +1 more)	not provided	Gnot provided
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 98381	NM_001159995.3(NRG1):c.37+564G>C	NRG1 (R4P)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided

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Links from Gene

Items: 29