"Ambry Genetics"[submitter] AND "BLTP2"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2535690	NM_014680.5(BLTP2):c.6440G>T (p.Cys2147Phe)	BLTP2, SPAG5-AS1 (C1472F +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555966	NM_014680.5(BLTP2):c.5897A>G (p.Asn1966Ser)	BLTP2, SPAG5-AS1 (N1965S +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2513930	NM_014680.5(BLTP2):c.5505G>A (p.Met1835Ile)	BLTP2 (M1500I +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610347	NM_014680.5(BLTP2):c.5209C>G (p.Gln1737Glu)	BLTP2 (Q1062E +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541942	NM_014680.5(BLTP2):c.5129G>C (p.Arg1710Pro)	BLTP2 (R1035P +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2624060	NM_014680.5(BLTP2):c.4927A>G (p.Thr1643Ala)	BLTP2 (T1500A +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607778	NM_014680.5(BLTP2):c.4603A>G (p.Met1535Val)	BLTP2 (M1200V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539204	NM_014680.5(BLTP2):c.4265C>T (p.Thr1422Ile)	BLTP2 (T1279I +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459232	NM_014680.5(BLTP2):c.4213T>C (p.Cys1405Arg)	BLTP2 (C1070R +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594091	NM_014680.5(BLTP2):c.4115G>A (p.Arg1372His)	BLTP2 (R1037H +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610003	NM_014680.5(BLTP2):c.3520C>T (p.His1174Tyr)	BLTP2 (H1174Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557947	NM_014680.5(BLTP2):c.3370C>T (p.Pro1124Ser)	BLTP2 (P449S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545012	NM_014680.5(BLTP2):c.3180G>T (p.Gln1060His)	BLTP2 (Q725H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544499	NM_014680.5(BLTP2):c.3173G>A (p.Arg1058Gln)	BLTP2 (R1058Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468136	NM_014680.5(BLTP2):c.3169C>T (p.Arg1057Cys)	BLTP2 (R1057C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544961	NM_014680.5(BLTP2):c.2978A>G (p.Glu993Gly)	BLTP2 (E318G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494667	NM_014680.5(BLTP2):c.2926C>G (p.Leu976Val)	BLTP2 (L301V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479025	NM_014680.5(BLTP2):c.2917C>G (p.Leu973Val)	BLTP2 (L830V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526470	NM_014680.5(BLTP2):c.2855G>T (p.Arg952Leu)	BLTP2 (R617L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2624413	NM_014680.5(BLTP2):c.2053A>G (p.Thr685Ala)	BLTP2 (T350A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521861	NM_014680.5(BLTP2):c.1639T>C (p.Ser547Pro)	BLTP2 (S404P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2560117	NM_014680.5(BLTP2):c.1610C>T (p.Thr537Ile)	BLTP2 (T394I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2613159	NM_014680.5(BLTP2):c.1571A>G (p.Asp524Gly)	BLTP2 (D381G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2616740	NM_014680.5(BLTP2):c.1310C>T (p.Thr437Ile)	BLTP2 (T294I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2599831	NM_014680.5(BLTP2):c.1177G>A (p.Ala393Thr)	BLTP2 (A250T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2599546	NM_014680.5(BLTP2):c.981T>A (p.Asp327Glu)	BLTP2 (D327E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2619656	NM_014680.5(BLTP2):c.905C>T (p.Thr302Ile)	BLTP2 (T302I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 27