Related gene-specific medical variations for Gene (Select 57534) - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366937	NM_020774.4(MIB1):c.2779+2dup	MIB1	Duplication (splice donor variant)	Left ventricular noncompaction 7	GLikely pathogenic
Select item 3362346	NM_020774.4(MIB1):c.13C>T (p.Arg5Trp)	MIB1 (R5W)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 7	GLikely pathogenic
Select item 3361337	NM_020774.4(MIB1):c.326G>A (p.Cys109Tyr)	MIB1 (C109Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360379	NM_020774.4(MIB1):c.305_306del (p.Glu102fs)	MIB1 (E102fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 3359967	NM_020774.4(MIB1):c.971_972del (p.Gln324fs)	MIB1 (Q324fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3338302	NM_020774.4(MIB1):c.2665+1G>A	MIB1	Single nucleotide variant (splice donor variant)	Left ventricular noncompaction 7	GLikely pathogenic
Select item 3067834	NM_020774.4(MIB1):c.531+1G>A	MIB1	Single nucleotide variant (splice donor variant)	Left ventricular noncompaction 7	GLikely pathogenic
Select item 3064992	NM_020774.4(MIB1):c.178del (p.Tyr60fs)	LOC130062255, MIB1 (Y60fs)	Deletion (frameshift variant)	Left ventricular noncompaction 7	GLikely pathogenic
Select item 2689427	NM_020774.4(MIB1):c.335G>T (p.Cys112Phe)	MIB1 (C112F)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 7	GUncertain significance
Select item 2433746	NM_020774.4(MIB1):c.2285A>G (p.Asn762Ser)	MIB1 (N762S)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 7	GUncertain significance
Select item 2429992	NM_020774.4(MIB1):c.2212-3C>G	MIB1	Single nucleotide variant (intron variant)	Autism spectrum disorder	GLikely benign
Select item 1785027	NM_020774.4(MIB1):c.204C>T (p.Leu68=)	LOC130062255, MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1778738	NM_020774.4(MIB1):c.171T>C (p.Ala57=)	LOC130062255, MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1776788	NM_020774.4(MIB1):c.162C>T (p.Asn54=)	LOC130062255, MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1773979	NM_020774.4(MIB1):c.14G>A (p.Arg5Gln)	LOC130062254, MIB1 (R5Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1769351	NM_020774.4(MIB1):c.12C>T (p.Ser4=)	LOC130062254, MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1691591	NM_020774.4(MIB1):c.-281C>T	LOC130062254, MIB1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1284538	NM_020774.4(MIB1):c.-17C>T	LOC130062254, MIB1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 1208681	NM_020774.4(MIB1):c.180C>T (p.Tyr60=)	MIB1, LOC130062255	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1205550	NM_020774.4(MIB1):c.-588G>A	LOC130062254, MIB1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1200890	NM_020774.4(MIB1):c.4A>G (p.Ser2Gly)	LOC130062254, MIB1 (S2G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1175114	NM_020774.4(MIB1):c.198C>A (p.Tyr66Ter)	MIB1, LOC130062255 (Y66*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1173032	NM_020774.4(MIB1):c.-5C>T	LOC130062254, MIB1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 726383	NM_020774.4(MIB1):c.9C>T (p.Asn3=)	LOC130062254, MIB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 683638	NM_020774.4(MIB1):c.-425G>A	LOC130062254, MIB1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 668990	NM_020774.4(MIB1):c.-298G>A	LOC130062254, MIB1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 517912	NM_020774.4(MIB1):c.-49_-41dup	LOC130062254, MIB1	Duplication (5 prime UTR variant)	not specified	GLikely benign
Select item 506384	NM_020774.4(MIB1):c.-46G>A	LOC130062254, MIB1	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 424108	NM_020774.4(MIB1):c.192G>T (p.Gly64=)	LOC130062255, MIB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 422751	NM_020774.4(MIB1):c.-46GGC[1]	LOC130062254, MIB1	Microsatellite (5 prime UTR variant)	not specified	GLikely benign
Select item 390868	NM_020774.4(MIB1):c.201C>T (p.Asp67=)	LOC130062255, MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign

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Links from Gene

Items: 31