Related gene-specific medical variations for Gene (Select 51332) - ClinVar

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

Links from Gene

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3322509	NM_016642.4(SPTBN5):c.151C>G (p.Arg51Gly)	LOC105370792, SPTBN5 (R51G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169724	NM_016642.4(SPTBN5):c.193A>G (p.Asn65Asp)	LOC105370792, SPTBN5 (N65D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169647	NM_016642.4(SPTBN5):c.298G>A (p.Glu100Lys)	LOC105370792, SPTBN5 (E100K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3169642	NM_016642.4(SPTBN5):c.218C>T (p.Ala73Val)	LOC105370792, SPTBN5 (A73V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3051755	NM_016642.4(SPTBN5):c.315G>A (p.Pro105=)	LOC105370792, SPTBN5	Single nucleotide variant (non-coding transcript variant +1 more)	SPTBN5-related disorder	GLikely benign
Select item 3049379	NM_016642.4(SPTBN5):c.-3C>T	LOC105370792, SPTBN5	Single nucleotide variant (5 prime UTR variant)	SPTBN5-related disorder	GLikely benign
Select item 3047832	NM_016642.4(SPTBN5):c.120C>T (p.Tyr40=)	LOC105370792, SPTBN5	Single nucleotide variant (synonymous variant)	SPTBN5-related disorder	GLikely benign
Select item 3035087	NM_016642.4(SPTBN5):c.129C>A (p.Gly43=)	LOC105370792, SPTBN5	Single nucleotide variant (synonymous variant)	SPTBN5-related disorder	GLikely benign
Select item 2690156	NM_016642.4(SPTBN5):c.5188del (p.Thr1729_Leu1730insTer)	SPTBN5	Deletion (nonsense)	not provided	GUncertain significance
Select item 2690155	NM_016642.4(SPTBN5):c.8268G>A (p.Glu2756=)	SPTBN5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2551886	NM_016642.4(SPTBN5):c.157A>G (p.Met53Val)	LOC105370792, SPTBN5 (M53V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547527	NM_016642.4(SPTBN5):c.136C>T (p.Arg46Cys)	LOC105370792, SPTBN5 (R46C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512955	NM_016642.4(SPTBN5):c.326G>A (p.Arg109His)	LOC105370792, SPTBN5 (R109H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2402092	NM_016642.4(SPTBN5):c.233G>A (p.Arg78Gln)	LOC105370792, SPTBN5 (R78Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2372521	NM_016642.4(SPTBN5):c.199G>A (p.Val67Ile)	LOC105370792, SPTBN5 (V67I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2324504	NM_016642.4(SPTBN5):c.295G>A (p.Gly99Arg)	LOC105370792, SPTBN5 (G99R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2306048	NM_016642.4(SPTBN5):c.156C>G (p.His52Gln)	LOC105370792, SPTBN5 (H52Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233122	NM_016642.4(SPTBN5):c.332G>A (p.Arg111His)	LOC105370792, SPTBN5 (R111H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 807215	NM_016642.4(SPTBN5):c.5772G>A (p.Ala1924=)	SPTBN5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 774939	NM_016642.4(SPTBN5):c.325C>T (p.Arg109Cys)	LOC105370792, SPTBN5 (R109C)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 768701	NM_016642.4(SPTBN5):c.8G>A (p.Gly3Asp)	LOC105370792, SPTBN5 (G3D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 711151	NM_016642.4(SPTBN5):c.359G>A (p.Arg120Gln)	LOC105370792, SPTBN5 (R120Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 22