"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "TRIM32"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 167745	NM_012210.4(TRIM32):c.257T>C (p.Ile86Thr)	ASTN2, TRIM32 (I86T)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 11 +3 more	GUncertain significance
Select item 840861	NM_012210.4(TRIM32):c.302G>A (p.Arg101Gln)	ASTN2, TRIM32 (R101Q)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +3 more	GUncertain significance
Select item 288372	NM_012210.4(TRIM32):c.404C>T (p.Thr135Ile)	ASTN2, TRIM32 (T135I)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +3 more	GUncertain significance
Select item 288658	NM_012210.4(TRIM32):c.521C>T (p.Ser174Phe)	ASTN2, TRIM32 (S174F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 195280	NM_012210.4(TRIM32):c.558G>C (p.Gln186His)	ASTN2, TRIM32 (Q186H)	Single nucleotide variant (missense variant +1 more)	Sarcotubular myopathy +4 more	GConflicting classifications of pathogenicity
Select item 1032554	NM_012210.4(TRIM32):c.896G>A (p.Arg299Gln)	ASTN2, TRIM32 (R299Q)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 100583	NM_012210.4(TRIM32):c.1222C>T (p.Arg408Cys)	ASTN2, TRIM32 (R408C)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 284781	NM_012210.4(TRIM32):c.1223G>A (p.Arg408His)	ASTN2, TRIM32 (R408H)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +3 more	GUncertain significance
Select item 283944	NM_012210.4(TRIM32):c.1354C>T (p.Leu452Phe)	TRIM32, ASTN2 (L452F)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +3 more	GUncertain significance