ClinVar for Gene (Select 140767) - ClinVar

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Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3301085	NM_080723.5(NRSN1):c.232A>G (p.Thr78Ala)	NRSN1 (T78A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301084	NM_080723.5(NRSN1):c.304G>A (p.Asp102Asn)	NRSN1 (D102N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202214	NM_080723.5(NRSN1):c.431C>T (p.Ser144Phe)	NRSN1 (S144F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202213	NM_080723.5(NRSN1):c.179T>C (p.Val60Ala)	NRSN1 (V60A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685198	GRCh37/hg19 6p22.3(chr6:24104231-24268740)x1	DCDC2, NRSN1	Copy number loss	not provided	GUncertain significance
Select item 2685197	GRCh37/hg19 6p22.3-22.2(chr6:21704602-26187420)x1	ACOT13, ALDH5A1 +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 2557041	NM_080723.5(NRSN1):c.110G>C (p.Cys37Ser)	NRSN1 (C37S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530214	NM_080723.5(NRSN1):c.82T>G (p.Ser28Ala)	NRSN1 (S28A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396903	NM_080723.5(NRSN1):c.500C>T (p.Pro167Leu)	NRSN1 (P167L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384861	NM_080723.5(NRSN1):c.295G>T (p.Val99Leu)	NRSN1 (V99L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371676	NM_080723.5(NRSN1):c.37G>A (p.Ala13Thr)	NRSN1 (A13T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356672	NM_080723.5(NRSN1):c.68G>A (p.Arg23His)	NRSN1 (R23H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337890	NM_080723.5(NRSN1):c.110G>A (p.Cys37Tyr)	NRSN1 (C37Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330797	NM_080723.5(NRSN1):c.104A>G (p.Glu35Gly)	NRSN1 (E35G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326701	NM_080723.5(NRSN1):c.463A>C (p.Lys155Gln)	NRSN1 (K155Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300042	NM_080723.5(NRSN1):c.488C>A (p.Ala163Asp)	NRSN1 (A163D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228446	NM_080723.5(NRSN1):c.571C>G (p.Pro191Ala)	NRSN1 (P191A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 687245	GRCh37/hg19 6p22.3(chr6:24062517-24178838)x3	DCDC2, NRSN1	Copy number gain	not provided	GUncertain significance
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442457	GRCh37/hg19 6p23-22.3(chr6:13693852-24225515)x1	ATXN1, CAP2 +27 more	Copy number loss	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 149747	GRCh38/hg38 6p22.3-22.2(chr6:23252522-25967277)x1	ACOT13, ALDH5A1 +64 more	Copy number loss	See cases	GUncertain significance
Select item 144466	GRCh38/hg38 6p22.3-22.2(chr6:22519454-25226331)x1	ACOT13, ALDH5A1 +50 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 25