SPCS1[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3168709	NM_014041.3(SPCS1):c.47C>A (p.Ser16Tyr)	SPCS1 (S16Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310997	NM_014041.5(SPCS1):c.-123G>A	SPCS1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3168704	NM_014041.5(SPCS1):c.-96C>G	SPCS1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3168705	NM_014041.5(SPCS1):c.-82A>C	SPCS1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3168706	NM_014041.5(SPCS1):c.-74C>A	SPCS1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2617082	NM_014041.5(SPCS1):c.-68T>C	SPCS1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 3322034	NM_014041.5(SPCS1):c.-53C>T	SPCS1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2237077	NM_014041.5(SPCS1):c.-23G>A	SPCS1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2470290	NM_014041.5(SPCS1):c.163G>A (p.Gly55Arg)	SPCS1 (G55R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168707	NM_014041.5(SPCS1):c.244G>A (p.Glu82Lys)	SPCS1 (E82K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618126	NM_014041.5(SPCS1):c.251G>A (p.Ser84Asn)	SPCS1 (S84N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322035	NM_014041.5(SPCS1):c.296C>G (p.Ala99Gly)	SPCS1 (A99G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance