"PreventionGenetics, part of Exact Sciences"[submitter] AND "STRA6"[ge - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 886754	NM_022369.4(STRA6):c.*10A>C	STRA6	Single nucleotide variant (3 prime UTR variant)	STRA6-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2634038	NM_022369.4(STRA6):c.1900C>T (p.Arg634Cys)	STRA6 (R625C +4 more)	Single nucleotide variant (missense variant)	STRA6-related disorder	GUncertain significance
Select item 3030948	NM_022369.4(STRA6):c.1839A>T (p.Glu613Asp)	STRA6 (E604D +4 more)	Single nucleotide variant (missense variant)	STRA6-related disorder	GUncertain significance
Select item 317100	NM_022369.4(STRA6):c.1685-5C>G	STRA6	Single nucleotide variant (intron variant)	STRA6-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 596487	NM_022369.4(STRA6):c.1605C>A (p.Leu535=)	STRA6	Single nucleotide variant (synonymous variant)	STRA6-related disorder +2 more	GBenign/Likely benign
Select item 261578	NM_022369.4(STRA6):c.1581G>A (p.Met527Ile)	STRA6 (M527I +4 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome +2 more	GBenign
Select item 3050350	NM_022369.4(STRA6):c.1440C>T (p.Ala480=)	STRA6	Single nucleotide variant (synonymous variant)	STRA6-related disorder	GLikely benign
Select item 2632933	NM_022369.4(STRA6):c.1222C>G (p.Arg408Gly)	STRA6 (R399G +4 more)	Single nucleotide variant (missense variant)	STRA6-related disorder	GUncertain significance
Select item 261577	NM_022369.4(STRA6):c.1167-10C>G	STRA6	Single nucleotide variant (intron variant)	Matthew-Wood syndrome +2 more	GBenign
Select item 800268	NM_022369.4(STRA6):c.973G>T (p.Val325Leu)	STRA6 (V340L +4 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1138	NM_022369.4(STRA6):c.961A>C (p.Thr321Pro)	STRA6 (T321P +4 more)	Single nucleotide variant (missense variant)	STRA6-related disorder	GUncertain significance
Select item 772765	NM_022369.4(STRA6):c.902C>T (p.Thr301Ile)	STRA6 (T292I +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 767584	NM_022369.4(STRA6):c.826C>T (p.Arg276Cys)	STRA6 (R267C +4 more)	Single nucleotide variant (missense variant)	STRA6-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3054876	NM_022369.4(STRA6):c.648C>T (p.Leu216=)	STRA6	Single nucleotide variant (synonymous variant)	STRA6-related disorder	GLikely benign
Select item 718211	NM_022369.4(STRA6):c.645C>A (p.Gly215=)	STRA6	Single nucleotide variant (synonymous variant)	STRA6-related disorder +1 more	GLikely benign
Select item 464035	NM_022369.4(STRA6):c.597+6C>T	STRA6	Single nucleotide variant (3 prime UTR variant +1 more)	Matthew-Wood syndrome +1 more	GLikely benign
Select item 317113	NM_022369.4(STRA6):c.406+5C>T	STRA6	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 3035622	NM_022369.4(STRA6):c.354C>T (p.Leu118=)	STRA6	Single nucleotide variant (synonymous variant)	STRA6-related disorder	GLikely benign
Select item 3058495	NM_022369.4(STRA6):c.267-4C>T	STRA6	Single nucleotide variant (intron variant)	STRA6-related disorder	GLikely benign
Select item 800267	NM_022369.4(STRA6):c.239G>A (p.Cys80Tyr)	STRA6 (C117Y +3 more)	Single nucleotide variant (missense variant)	STRA6-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 317118	NM_022369.4(STRA6):c.91G>A (p.Gly31Ser)	STRA6 (G31S +3 more)	Single nucleotide variant (missense variant)	STRA6-related disorder +1 more	GBenign/Likely benign
Select item 3029241	NM_001199040.2(STRA6):c.96+1623C>T	CCDC33, STRA6	Single nucleotide variant (5 prime UTR variant +1 more)	STRA6-related disorder	GLikely benign
Select item 3035399	NM_001199040.2(STRA6):c.57G>A (p.Arg19=)	CCDC33, STRA6	Single nucleotide variant (synonymous variant)	STRA6-related disorder	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 23