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

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2379232	NM_005336.6(HDLBP):c.3730A>G (p.Met1244Val)	ANO7, HDLBP (M1211V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283739	NM_005336.6(HDLBP):c.3686G>T (p.Arg1229Leu)	ANO7, HDLBP (R1196L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104739	NM_005336.6(HDLBP):c.3436C>T (p.Arg1146Cys)	ANO7, HDLBP (R1113C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261541	NM_005336.6(HDLBP):c.3412G>A (p.Val1138Ile)	ANO7, HDLBP (V1105I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104738	NM_005336.6(HDLBP):c.3236G>A (p.Arg1079Gln)	ANO7, HDLBP (R1079Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347515	NM_005336.6(HDLBP):c.3070G>A (p.Ala1024Thr)	ANO7, HDLBP (A1024T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104737	NM_005336.6(HDLBP):c.2944G>T (p.Asp982Tyr)	ANO7, HDLBP (D982Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104736	NM_005336.6(HDLBP):c.2893G>A (p.Glu965Lys)	ANO7, HDLBP (E965K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104735	NM_005336.6(HDLBP):c.2867G>A (p.Arg956Gln)	ANO7, HDLBP (R923Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211423	NM_005336.6(HDLBP):c.2856C>G (p.Ile952Met)	ANO7, HDLBP (I952M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104734	NM_005336.6(HDLBP):c.2806G>C (p.Glu936Gln)	ANO7, HDLBP (E903Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607831	NM_005336.6(HDLBP):c.2785G>A (p.Asp929Asn)	ANO7, HDLBP (D896N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472015	NM_005336.6(HDLBP):c.2779A>C (p.Asn927His)	ANO7, HDLBP (N894H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598632	NM_005336.6(HDLBP):c.2619G>C (p.Gln873His)	ANO7, HDLBP (Q873H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104733	NM_005336.6(HDLBP):c.2607C>G (p.Asp869Glu)	ANO7, HDLBP (D869E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104732	NM_005336.6(HDLBP):c.2561A>G (p.Asp854Gly)	ANO7, HDLBP (D821G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206166	NM_005336.6(HDLBP):c.2529G>C (p.Gln843His)	ANO7, HDLBP (Q810H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104731	NM_005336.6(HDLBP):c.2383C>G (p.Gln795Glu)	ANO7, HDLBP (Q762E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549222	NM_005336.6(HDLBP):c.2360A>G (p.Gln787Arg)	ANO7, HDLBP (Q754R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404356	NM_005336.6(HDLBP):c.2347G>A (p.Val783Ile)	ANO7, HDLBP (V750I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461880	NM_005336.6(HDLBP):c.2330T>C (p.Ile777Thr)	ANO7, HDLBP (I777T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104730	NM_005336.6(HDLBP):c.2243G>T (p.Gly748Val)	ANO7, HDLBP (G715V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283743	NM_005336.6(HDLBP):c.2188G>T (p.Val730Phe)	ANO7, HDLBP (V730F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520305	NM_005336.6(HDLBP):c.2098G>A (p.Val700Ile)	HDLBP (V667I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283740	NM_005336.6(HDLBP):c.2074G>A (p.Val692Met)	HDLBP (V692M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339252	NM_005336.6(HDLBP):c.2048G>A (p.Cys683Tyr)	HDLBP (C683Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478199	NM_005336.6(HDLBP):c.2029C>T (p.Arg677Cys)	HDLBP (R677C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283741	NM_005336.6(HDLBP):c.1898G>A (p.Arg633Gln)	HDLBP (R600Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317708	NM_005336.6(HDLBP):c.1754C>T (p.Ser585Phe)	HDLBP (S585F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283742	NM_005336.6(HDLBP):c.1397A>G (p.Lys466Arg)	HDLBP (K433R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269302	NM_005336.6(HDLBP):c.1324A>G (p.Ile442Val)	HDLBP (I409V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104729	NM_005336.6(HDLBP):c.1286A>G (p.Lys429Arg)	HDLBP (K396R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266382	NM_005336.6(HDLBP):c.1279A>G (p.Met427Val)	HDLBP (M394V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283744	NM_005336.6(HDLBP):c.1183C>T (p.Pro395Ser)	HDLBP (P362S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603417	NM_005336.6(HDLBP):c.1130G>A (p.Arg377His)	HDLBP (R377H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482869	NM_005336.6(HDLBP):c.1093A>T (p.Thr365Ser)	HDLBP (T332S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536631	NM_005336.6(HDLBP):c.1006A>G (p.Ser336Gly)	HDLBP (S336G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407112	NM_005336.6(HDLBP):c.985G>A (p.Val329Ile)	HDLBP (V329I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104740	NM_005336.6(HDLBP):c.808T>C (p.Phe270Leu)	HDLBP (F306L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232910	NM_005336.6(HDLBP):c.574C>G (p.Pro192Ala)	HDLBP (P192A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2313890	NM_005336.6(HDLBP):c.299A>C (p.Gln100Pro)	HDLBP (Q136P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479160	NM_005336.6(HDLBP):c.194G>A (p.Gly65Glu)	HDLBP (G101E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549411	NM_005336.6(HDLBP):c.106G>A (p.Asp36Asn)	HDLBP (D36N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289850	NM_005336.6(HDLBP):c.90T>A (p.Asn30Lys)	HDLBP (N30K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104741	NM_005336.6(HDLBP):c.86T>C (p.Leu29Pro)	HDLBP (L29P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 45