CSN1S1[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3078255	NM_001890.2(CSN1S1):c.76C>T (p.Arg26Cys)	CSN1S1 (R26C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782694	NM_001890.2(CSN1S1):c.84+5A>G	CSN1S1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3078256	NM_001890.2(CSN1S1):c.88C>T (p.Pro30Ser)	CSN1S1 (P30S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078257	NM_001890.2(CSN1S1):c.96G>C (p.Glu32Asp)	CSN1S1 (E32D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 773695	NM_001890.2(CSN1S1):c.106-4G>T	CSN1S1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2371992	NM_001890.2(CSN1S1):c.199A>G (p.Thr67Ala)	CSN1S1 (T66A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078252	NM_001890.2(CSN1S1):c.249G>A (p.Met83Ile)	CSN1S1 (M83I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404075	NM_001890.2(CSN1S1):c.259A>G (p.Ile87Val)	CSN1S1 (I86V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531179	NM_001890.2(CSN1S1):c.464T>A (p.Ile155Asn)	CSN1S1 (I155N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078254	NM_001890.2(CSN1S1):c.496G>A (p.Asp166Asn)	CSN1S1 (D157N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363935	NM_001890.2(CSN1S1):c.496G>T (p.Asp166Tyr)	CSN1S1 (D166Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248882	NM_001890.2(CSN1S1):c.529G>C (p.Glu177Gln)	CSN1S1 (E177Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393678	NM_001890.2(CSN1S1):c.541G>A (p.Val181Ile)	CSN1S1 (V172I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314654	NM_001890.2(CSN1S1):c.544A>G (p.Met182Val)	CSN1S1 (M182V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance