SPNS1[gene] and "single gene"[properties] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3169231	NM_032038.3(SPNS1):c.200A>G (p.Tyr67Cys)	SPNS1 (Y67C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244493	NM_032038.3(SPNS1):c.375G>T (p.Lys125Asn)	SPNS1 (K125N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408444	NM_032038.3(SPNS1):c.439G>A (p.Gly147Arg)	SPNS1 (G125R +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2469178	NM_032038.3(SPNS1):c.636G>C (p.Met212Ile)	SPNS1 (M190I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210732	NM_032038.3(SPNS1):c.742C>T (p.Arg248Cys)	SPNS1 (R175C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289281	NM_032038.3(SPNS1):c.818T>A (p.Phe273Tyr)	SPNS1 (F200Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272173	NM_032038.3(SPNS1):c.875T>C (p.Leu292Pro)	SPNS1 (L292P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2646357	NM_032038.3(SPNS1):c.981C>A (p.Leu327=)	SPNS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646358	NM_032038.3(SPNS1):c.996C>T (p.Thr332=)	SPNS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2359108	NM_032038.3(SPNS1):c.1012G>A (p.Gly338Ser)	SPNS1 (G264S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288425	NM_032038.3(SPNS1):c.1060G>A (p.Ala354Thr)	SPNS1 (A280T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169229	NM_032038.3(SPNS1):c.1207G>T (p.Ala403Ser)	SPNS1 (A329S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220461	NM_032038.3(SPNS1):c.1210G>A (p.Asp404Asn)	SPNS1 (D404N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303499	NM_032038.3(SPNS1):c.1313T>C (p.Ile438Thr)	SPNS1 (I386T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324359	NM_032038.3(SPNS1):c.1362G>T (p.Leu454Phe)	SPNS1 (L454F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775042	NM_032038.3(SPNS1):c.1425C>T (p.Gly475=)	SPNS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2222814	NM_032038.3(SPNS1):c.1472G>A (p.Arg491Gln)	SPNS1 (R417Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480741	NM_032038.3(SPNS1):c.1504G>A (p.Glu502Lys)	SPNS1 (E502K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367993	NM_032038.3(SPNS1):c.1549C>T (p.Arg517Cys)	SPNS1 (R517C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570936	NM_032038.3(SPNS1):c.1550G>A (p.Arg517His)	SPNS1 (R443H +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3169230	NM_032038.3(SPNS1):c.1561G>A (p.Val521Met)	SPNS1 (V447M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205666	NM_032038.3(SPNS1):c.1567G>A (p.Val523Met)	SPNS1 (V471M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 22