ClinVar for MedGen (Select 1807702) - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377602	NM_001080467.3(MYO5B):c.1572G>T (p.Trp524Cys)	MYO5B (W524C)	Single nucleotide variant (missense variant)	Cholestasis, progressive familial intrahepatic, 10	GUncertain significance
Select item 1705511	NM_001080467.3(MYO5B):c.999G>T (p.Leu333Phe)	MYO5B (L333F)	Single nucleotide variant (missense variant)	Cholestasis, progressive familial intrahepatic, 10	GUncertain significance
Select item 1686961	NM_001080467.3(MYO5B):c.1860dup (p.Met621fs)	MYO5B (M621fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1686960	NM_001080467.3(MYO5B):c.1463T>C (p.Ile488Thr)	MYO5B	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1686959	NM_001080467.3(MYO5B):c.1021C>T (p.Gln341Ter)	MYO5B	Single nucleotide variant (nonsense)	Cholestasis, progressive familial intrahepatic, 10	GPathogenic
Select item 1686957	NM_001080467.3(MYO5B):c.3538-1G>A	MYO5B	Single nucleotide variant (splice acceptor variant)	Cholestasis, progressive familial intrahepatic, 10	GPathogenic
Select item 1686946	NM_001080467.3(MYO5B):c.[1135C>T;2470C>T]	MYO5B (R379C +1 more)	Single nucleotide variant (missense variant)	Cholestasis, progressive familial intrahepatic, 10	GPathogenic
Select item 1686945	NM_001080467.3(MYO5B):c.356A>G (p.Tyr119Cys)	MYO5B	Single nucleotide variant (missense variant)	Cholestasis, progressive familial intrahepatic, 10	GPathogenic
Select item 1686944	NM_001080467.3(MYO5B):c.2414+5G>T	MYO5B	Single nucleotide variant (intron variant)	Cholestasis, progressive familial intrahepatic, 10	GPathogenic
Select item 1686943	NM_001080467.3(MYO5B):c.2395C>T (p.Arg799Trp)	MYO5B (R799W)	Single nucleotide variant (missense variant)	Cholestasis, progressive familial intrahepatic, 10	GPathogenic
Select item 1686942	NM_001080467.3(MYO5B):c.274C>T (p.Arg92Cys)	MYO5B	Single nucleotide variant (missense variant)	Cholestasis, progressive familial intrahepatic, 10	GPathogenic
Select item 1626596	NM_001080467.3(MYO5B):c.4764C>T (p.Thr1588=)	MYO5B, SNHG22	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1510451	NM_001080467.3(MYO5B):c.2470C>T (p.Arg824Cys)	MYO5B (R824C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1485987	NM_001080467.3(MYO5B):c.1201C>T (p.Arg401Cys)	MYO5B (R401C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1436086	NM_001080467.3(MYO5B):c.1325T>C (p.Phe442Ser)	MYO5B (F442S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1349914	NM_001080467.3(MYO5B):c.3738G>C (p.Gln1246His)	MYO5B (Q1246H)	Single nucleotide variant (missense variant)	Cholestasis, progressive familial intrahepatic, 10 +2 more	GUncertain significance
Select item 1038856	NM_001080467.3(MYO5B):c.2995C>T (p.Arg999Cys)	MYO5B (R999C)	Single nucleotide variant (missense variant)	MYO5B-related disorder +3 more	GUncertain significance
Select item 891724	NM_001080467.3(MYO5B):c.-93C>T	LOC130062487, MYO5B	Single nucleotide variant (5 prime UTR variant)	Congenital microvillous atrophy +1 more	GConflicting classifications of pathogenicity
Select item 786341	NM_001080467.3(MYO5B):c.1793C>T (p.Pro598Leu)	MYO5B (P598L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 711603	NM_001080467.3(MYO5B):c.4481C>T (p.Ser1494Leu)	MYO5B, SNHG22 (S1494L)	Single nucleotide variant (missense variant)	Cholestasis, progressive familial intrahepatic, 10 +2 more	GBenign/Likely benign
Select item 594845	NM_001080467.3(MYO5B):c.4240G>A (p.Glu1414Lys)	SNHG22, LOC126862745 +1 more (E1414K)	Single nucleotide variant (non-coding transcript variant +1 more)	Cholestasis, progressive familial intrahepatic, 10 +2 more	GConflicting classifications of pathogenicity
Select item 327092	NM_001080467.3(MYO5B):c.28T>G (p.Cys10Gly)	MYO5B (C10G)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 327052	NM_001080467.3(MYO5B):c.2076T>C (p.Ala692=)	MYO5B	Single nucleotide variant (synonymous variant)	Congenital microvillous atrophy +2 more	GBenign/Likely benign
Select item 327027	NM_001080467.3(MYO5B):c.3432G>A (p.Thr1144=)	MYO5B	Single nucleotide variant (synonymous variant)	Congenital microvillous atrophy +2 more	GBenign/Likely benign
Select item 327003	NM_001080467.3(MYO5B):c.5041G>T (p.Val1681Leu)	MYO5B, SNHG22 (V1681L)	Single nucleotide variant (missense variant)	Cholestasis, progressive familial intrahepatic, 10 +3 more	GUncertain significance

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Items: 25