ClinVar for MedGen (Select 1684676) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068057	NM_006576.4(AVIL):c.1285A>G (p.Thr429Ala)	AVIL (T429A)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 21	GUncertain significance
Select item 2442084	NM_006576.4(AVIL):c.121G>A (p.Asp41Asn)	AVIL (D41N)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 21	GUncertain significance
Select item 2439447	NM_006576.4(AVIL):c.812dup (p.Leu272fs)	AVIL (L272fs)	Duplication (frameshift variant)	Nephrotic syndrome, type 21	GUncertain significance
Select item 2439446	NM_006576.4(AVIL):c.66+9G>A	AVIL	Single nucleotide variant (intron variant)	Nephrotic syndrome, type 21	GUncertain significance
Select item 2439445	NM_006576.4(AVIL):c.2250T>A (p.Asn750Lys)	AVIL, TSFM (N750K)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 21	GUncertain significance
Select item 1810257	NM_006576.4(AVIL):c.595C>T (p.Arg199Ter)	AVIL (R199*)	Single nucleotide variant (nonsense)	Nephrotic syndrome, type 21 +1 more	GLikely pathogenic
Select item 1691303	NM_006576.4(AVIL):c.1204A>G (p.Ile402Val)	AVIL (I402V)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 21	GUncertain significance
Select item 1691301	NM_006576.4(AVIL):c.431A>T (p.Asn144Ile)	AVIL (N144I)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 21	GUncertain significance
Select item 1192376	NM_006576.4(AVIL):c.610A>G (p.Lys204Glu)	AVIL (K204E)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 21 +1 more	GBenign
Select item 684651	NM_006576.4(AVIL):c.1964dup (p.Phe656fs)	AVIL, TSFM (F656fs)	Duplication (frameshift variant +1 more)	Nephrotic syndrome, type 21	GUncertain significance
Select item 684650	NM_006576.4(AVIL):c.404G>A (p.Arg135Gln)	AVIL (R135Q)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 21	GLikely pathogenic
Select item 684649	NM_006576.4(AVIL):c.1337G>A (p.Arg446His)	AVIL (R446H)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 21 +1 more	GPathogenic
Select item 684648	NM_006576.4(AVIL):c.1273C>A (p.Leu425Met)	AVIL (L425M)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 21 +1 more	GPathogenic
Select item 418526	NM_005726.6(TSFM):c.644C>T (p.Ser215Phe)	TSFM (S236F +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity