SDSL[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 155465	GRCh38/hg38 12q24.13-24.21(chr12:113077775-114372366)x1	CFAP73, DDX54 +68 more	Copy number loss	See cases	GPathogenic
Select item 2364860	NM_001304993.2(SDSL):c.89C>T (p.Ala30Val)	SDSL (A30V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342125	NM_001304993.2(SDSL):c.148C>T (p.Arg50Trp)	SDSL (R50W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550043	NM_001304993.2(SDSL):c.151G>A (p.Gly51Ser)	SDSL (G51S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351031	NM_001304993.2(SDSL):c.224C>T (p.Ala75Val)	SDSL (A75V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460159	NM_001304993.2(SDSL):c.286G>A (p.Glu96Lys)	SDSL (E96K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227212	NM_001304993.2(SDSL):c.290G>T (p.Ser97Ile)	SDSL (S97I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 585042	NM_001304993.2(SDSL):c.360G>A (p.Trp120Ter)	SDSL (W120*)	Single nucleotide variant (nonsense)	not provided	Gnot provided
Select item 2220141	NM_001304993.2(SDSL):c.422C>T (p.Pro141Leu)	SDSL (P141L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481226	NM_001304993.2(SDSL):c.490A>G (p.Thr164Ala)	SDSL (T164A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 788888	NM_001304993.2(SDSL):c.685del (p.Leu229fs)	SDSL (L229fs)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 2528304	NM_001304993.2(SDSL):c.729G>C (p.Gln243His)	SDSL (Q243H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385513	NM_001304993.2(SDSL):c.905C>T (p.Thr302Ile)	SDSL (T302I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363687	NM_001304993.2(SDSL):c.937A>G (p.Asn313Asp)	SDSL (N313D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1527733	GRCh37/hg19 12q24.13-24.21(chr12:113445811-114933860)	CFAP73, DDX54 +13 more	Copy number loss	not specified	GPathogenic
Select item 1252006	NC_000012.11:g.113120652_115362584del	DDX54, DTX1 +17 more	Deletion	Abnormality of the upper limb +1 more	GPathogenic
Select item 689109	GRCh37/hg19 12q24.13(chr12:113695889-113904780)x1	LHX5, PLBD2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

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Items: 21