Related gene-specific medical variations for Gene (Select 64220) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3171560	NM_022369.4(STRA6):c.1148G>A (p.Arg383His)	LOC126862177, STRA6 (R398H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3171559	NM_022369.4(STRA6):c.1147C>T (p.Arg383Cys)	LOC126862177, STRA6 (R383C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065238	NM_022369.4(STRA6):c.1922T>A (p.Leu641Gln)	STRA6 (L632Q +4 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome	GUncertain significance
Select item 3035399	NM_001199040.2(STRA6):c.57G>A (p.Arg19=)	CCDC33, STRA6	Single nucleotide variant (synonymous variant)	STRA6-related disorder	GLikely 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 2645537	NC_000015.10:g.74217353C>A	CCDC33, STRA6	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 2645534	NM_022369.4(STRA6):c.1135C>T (p.Leu379=)	LOC126862177, STRA6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2347034	NM_022369.4(STRA6):c.1157T>C (p.Val386Ala)	LOC126862177, STRA6 (V386A +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234628	NM_001199040.2(STRA6):c.35T>A (p.Val12Asp)	CCDC33, STRA6 (V12D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1707377	NM_022369.4(STRA6):c.1091-118G>C	LOC126862177, STRA6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1707199	NM_001199040.2(STRA6):c.96+123C>T	CCDC33, STRA6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286417	NM_001142617.2(STRA6):c.-15-934_-15-933del	CCDC33, STRA6	Deletion (intron variant)	not provided	GBenign
Select item 1286131	NM_001142617.2(STRA6):c.-16+411G>A	CCDC33, STRA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282558	NM_022369.4(STRA6):c.1167-300T>G	LOC126862177, STRA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279498	NM_001142617.2(STRA6):c.-16+1161G>A	CCDC33, STRA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260403	NM_001142617.2(STRA6):c.-15-751T>G	CCDC33, STRA6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1248987	NM_001142617.2(STRA6):c.-16+1088G>A	CCDC33, STRA6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1248750	NM_001142617.2(STRA6):c.-16+794G>C	CCDC33, STRA6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1244306	NM_022369.4(STRA6):c.266+266G>A	LOC132090331, STRA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225093	NM_001142617.2(STRA6):c.-16+1185C>G	CCDC33, STRA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204061	NM_001142617.2(STRA6):c.-16+1061C>G	CCDC33, STRA6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1049279	NM_001142617.2(STRA6):c.-16+1080T>G	STRA6, CCDC33 (S3A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 932112	NM_022369.4(STRA6):c.-15-167G>A	STRA6 (S24N)	Single nucleotide variant (intron variant +1 more)	Matthew-Wood syndrome	GUncertain significance
Select item 931117	NM_022369.4(STRA6):c.785G>T (p.Ser262Ile)	STRA6 (S301I +4 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome	GUncertain significance
Select item 753968	NM_022369.4(STRA6):c.1091-5A>G	LOC126862177, STRA6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675105	NM_022369.3(STRA6):c.-5067C>T	CCDC33, STRA6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 675104	NM_022369.3(STRA6):c.-5200G>A	CCDC33, STRA6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 674954	NM_022369.4(STRA6):c.1166+105C>T	LOC126862177, STRA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674953	NM_022369.4(STRA6):c.1166+82C>T	LOC126862177, STRA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 591965	NM_022369.4(STRA6):c.1594C>G (p.Arg532Gly)	STRA6 (R532G +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591862	NM_022369.4(STRA6):c.1518C>A (p.Asn506Lys)	STRA6 (N506K +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591313	NM_022369.4(STRA6):c.1917G>A (p.Trp639Ter)	STRA6 (W639* +4 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 591169	NM_022369.4(STRA6):c.386_387delinsCA (p.Leu129Pro)	STRA6 (L166P +4 more)	Indel (missense variant)	Matthew-Wood syndrome	GUncertain significance

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Links from Gene

Items: 33