"Ambry Genetics"[submitter] AND "LRP2BP"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2297000	NM_001377440.1(LRP2BP):c.997G>A (p.Ala333Thr)	LRP2BP, SNX25 (A235T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384250	NM_001377440.1(LRP2BP):c.877G>A (p.Gly293Ser)	LRP2BP, SNX25 (G292S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2330842	NM_001377440.1(LRP2BP):c.813C>G (p.Asp271Glu)	LRP2BP, SNX25 (D172E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222793	NM_001377440.1(LRP2BP):c.748G>A (p.Val250Met)	LRP2BP, SNX25 (V151M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346535	NM_001377440.1(LRP2BP):c.739G>A (p.Gly247Arg)	LRP2BP, SNX25 (G246R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219699	NM_001377440.1(LRP2BP):c.718C>T (p.Arg240Cys)	LRP2BP, SNX25 (R142C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2560234	NM_001377440.1(LRP2BP):c.699C>G (p.Cys233Trp)	LRP2BP, SNX25 (C135W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250817	NM_001377440.1(LRP2BP):c.680C>T (p.Thr227Met)	LRP2BP, SNX25 (T128M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206492	NM_001377440.1(LRP2BP):c.643C>T (p.Leu215Phe)	LRP2BP, SNX25 (L116F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465820	NM_001377440.1(LRP2BP):c.452G>A (p.Arg151Gln)	LRP2BP, SNX25 (R150Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530506	NM_001377440.1(LRP2BP):c.388C>A (p.His130Asn)	LRP2BP, SNX25 (H129N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274961	NM_001377440.1(LRP2BP):c.292G>T (p.Val98Leu)	SNX25, LRP2BP (V98L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2278424	NM_001377440.1(LRP2BP):c.259G>A (p.Glu87Lys)	LRP2BP, SNX25 (E87K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2600450	NM_001377440.1(LRP2BP):c.13A>G (p.Ser5Gly)	LRP2BP, SNX25 (S5G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2521401	NM_181726.4(ANKRD37):c.123C>A (p.Ser41Arg)	ANKRD37, LRP2BP (S41R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2350405	NM_181726.4(ANKRD37):c.130G>A (p.Ala44Thr)	ANKRD37, LRP2BP (A44T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance