Related gene-specific medical variations for Gene (Select 9542) - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3202108	NM_004883.3(NRG2):c.2420C>T (p.Ser807Leu)	LOC129994810, NRG2 (S604L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202107	NM_004883.3(NRG2):c.2374A>C (p.Ser792Arg)	LOC129994810, NRG2 (S794R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202104	NM_004883.3(NRG2):c.2197T>C (p.Ser733Pro)	LOC129994811, NRG2 (S530P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202103	NM_004883.3(NRG2):c.2186C>A (p.Ala729Glu)	LOC129994811, NRG2 (A731E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202101	NM_004883.3(NRG2):c.2122C>G (p.Pro708Ala)	LOC129994811, NRG2 (P642A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202099	NM_004883.3(NRG2):c.2050C>T (p.Pro684Ser)	LOC129994811, NRG2 (P481S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202098	NM_004883.3(NRG2):c.1976G>C (p.Gly659Ala)	LOC129994811, NRG2 (G593A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202097	NM_004883.3(NRG2):c.1952C>T (p.Pro651Leu)	LOC129994811, NRG2 (P448L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620852	NM_004883.3(NRG2):c.1874C>T (p.Ser625Leu)	LOC129994811, NRG2 (S625L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590603	NM_004883.3(NRG2):c.2368G>A (p.Ala790Thr)	LOC129994810, NRG2 (A587T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534351	NM_004883.3(NRG2):c.2399G>C (p.Gly800Ala)	LOC129994810, NRG2 (G597A +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2534350	NM_004883.3(NRG2):c.2177G>C (p.Arg726Pro)	LOC129994811, NRG2 (R660P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530079	NM_004883.3(NRG2):c.2206A>G (p.Thr736Ala)	LOC129994811, NRG2 (T730A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511080	NM_004883.3(NRG2):c.1990C>T (p.Pro664Ser)	LOC129994811, NRG2 (P461S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476796	NM_004883.3(NRG2):c.1813G>A (p.Val605Met)	LOC129994811, NRG2 (V402M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471168	NM_004883.3(NRG2):c.2071T>G (p.Cys691Gly)	LOC129994811, NRG2 (C625G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469421	NM_004883.3(NRG2):c.1991C>G (p.Pro664Arg)	LOC129994811, NRG2 (P664R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468933	NM_004883.3(NRG2):c.1957C>G (p.Pro653Ala)	LOC129994811, NRG2 (P450A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2429921	NM_004883.3(NRG2):c.872+1G>A	NRG2	Single nucleotide variant (splice donor variant)	Autism spectrum disorder	GUncertain significance
Select item 2392612	NM_004883.3(NRG2):c.2209T>C (p.Ser737Pro)	LOC129994811, NRG2 (S671P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387347	NM_004883.3(NRG2):c.2179C>T (p.Pro727Ser)	LOC129994811, NRG2 (P524S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384498	NM_004883.3(NRG2):c.2090T>C (p.Leu697Pro)	LOC129994811, NRG2 (L494P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383026	NM_004883.3(NRG2):c.1856A>C (p.Glu619Ala)	LOC129994811, NRG2 (E416A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346489	NM_004883.3(NRG2):c.2401G>T (p.Ala801Ser)	LOC129994810, NRG2 (A735S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323264	NM_004883.3(NRG2):c.2095A>G (p.Ser699Gly)	LOC129994811, NRG2 (S633G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322234	NM_004883.3(NRG2):c.1957C>A (p.Pro653Thr)	LOC129994811, NRG2 (P647T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259424	NM_004883.3(NRG2):c.1975G>C (p.Gly659Arg)	LOC129994811, NRG2 (G456R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255035	NM_004883.3(NRG2):c.2003C>T (p.Ala668Val)	LOC129994811, NRG2 (A465V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1241401	NM_004883.3(NRG2):c.1971ACCCGG[1] (p.654PG[6])	LOC129994811, NRG2	Microsatellite (inframe_deletion)	not provided	GBenign

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Links from Gene

Items: 29