heterologous transplantation - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 665887	NM_001369369.1(FOXN1):c.1392_1401del (p.Pro465fs)	FOXN1 (P465fs)	Deletion (frameshift variant)	T-cell immunodeficiency, congenital alopecia, and nail dystrophy	GLikely pathogenic FDA Recognized database
Select item 827578	NM_001369369.1(FOXN1):c.1418del (p.Pro473fs)	FOXN1 (P473fs)	Deletion (frameshift variant)	T-cell immunodeficiency, congenital alopecia, and nail dystrophy	GLikely pathogenic FDA Recognized database
Select item 226299	NC_000019.10:g.11089429C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 161272	NM_000527.5(LDLR):c.58G>A (p.Gly20Arg)	LDLR, LDLR-AS1 (G20R)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GBenign FDA Recognized database
Select item 3685	NM_000527.5(LDLR):c.259T>G (p.Trp87Gly)	LDLR (W87G)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 251105	NM_000527.5(LDLR):c.268G>A (p.Asp90Asn)	LDLR (D90N)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 183136	NM_000527.5(LDLR):c.502G>A (p.Asp168Asn)	LDLR (D168N +1 more)	Single nucleotide variant (missense variant +1 more)	Homozygous familial hypercholesterolemia +4 more	GPathogenic/Likely pathogenic
Select item 3686	NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)	LDLR (S177L +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 183092	NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)	LDLR (D221G +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 3691	NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)	LDLR (E228K +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 183097	NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)	LDLR (E277K +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 251581	NM_000527.5(LDLR):c.977C>G (p.Ser326Cys)	LDLR (S326C +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 226344	NM_000527.5(LDLR):c.986G>A (p.Cys329Tyr)	LDLR (C329Y +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 183108	NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro)	LDLR (Q378P +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 183110	NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)	LDLR (R416W +3 more)	Single nucleotide variant (missense variant)	Homozygous familial hypercholesterolemia +4 more	GPathogenic/Likely pathogenic
Select item 3694	NM_000527.5(LDLR):c.1285G>A (p.Val429Met)	LDLR (V429M +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 3695	NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)	LDLR (A431T +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 161285	NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)	LDLR (D492N +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 3698	NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)	LDLR (G549D +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +3 more	GPathogenic/Likely pathogenic
Select item 252000	NM_000527.5(LDLR):c.1729T>G (p.Trp577Gly)	LDLR (W577G +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 161271	NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)	LDLR (G592E +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 252216	NM_000527.5(LDLR):c.2093G>T (p.Cys698Phe)	LDLR (C698F +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1 +1 more	GPathogenic/Likely pathogenic
Select item 36461	NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)	LDLR (T726I +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GBenign FDA Recognized database
Select item 252320	NM_000527.5(LDLR):c.2396T>G (p.Leu799Arg)	LDLR (L799R +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GLikely pathogenic

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Items: 24