YIF1B[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 2362917	NM_033520.3(C19orf33):c.218C>A (p.Ser73Tyr)	C19orf33, YIF1B (S73Y)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3354602	NM_001039672.3(YIF1B):c.884TGGCGG[3] (p.Ala298_Ala299insValAla)	YIF1B	Microsatellite (inframe_insertion +1 more)	YIF1B-related condition	GUncertain significance
Select item 2228724	NM_001039672.3(YIF1B):c.885G>A (p.Met295Ile)	YIF1B (M278I +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2314287	NM_001039672.3(YIF1B):c.883A>G (p.Met295Val)	YIF1B (M280V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1707014	NM_001039672.3(YIF1B):c.841_861delinsAGACGCAG (p.Pro281fs)	YIF1B (P250fs +4 more)	Indel (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2556513	NM_001039672.3(YIF1B):c.850G>A (p.Gly284Arg)	YIF1B (G253R +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2649786	NM_001039672.3(YIF1B):c.828A>G (p.Ala276=)	YIF1B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3191491	NM_001039672.3(YIF1B):c.818C>G (p.Ala273Gly)	YIF1B (A242G +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2681650	NM_001039672.3(YIF1B):c.789+470T>C	YIF1B	Single nucleotide variant (synonymous variant +1 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 985860	NM_001039672.3(YIF1B):c.716T>A (p.Met239Lys)	YIF1B (M208K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 988955	NM_001039672.3(YIF1B):c.696-2A>C	YIF1B	Single nucleotide variant (splice acceptor variant)	Kaya-Barakat-Masson syndrome	GPathogenic
Select item 2649787	NM_001039672.3(YIF1B):c.693C>T (p.Val231=)	YIF1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025179	NM_001039672.3(YIF1B):c.660C>T (p.Ile220=)	YIF1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3333663	NM_001039672.3(YIF1B):c.642C>A (p.Asn214Lys)	YIF1B (N214K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604535	NM_001039672.3(YIF1B):c.631G>T (p.Val211Phe)	YIF1B (V196F +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1223230	NM_001039672.3(YIF1B):c.621C>A (p.Ser207Arg)	YIF1B (S176R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2264529	NM_001039672.3(YIF1B):c.610A>G (p.Ile204Val)	YIF1B (I173V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 988951	NM_001039672.3(YIF1B):c.598G>T (p.Glu200Ter)	YIF1B (E200* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1210525	NM_001039672.3(YIF1B):c.569C>A (p.Ala190Glu)	YIF1B (A159E +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1879437	NM_001039672.3(YIF1B):c.543C>T (p.Phe181=)	YIF1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 988952	NM_001039672.3(YIF1B):c.539+1G>A	YIF1B	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 3064737	NM_001039672.3(YIF1B):c.463C>T (p.Pro155Ser)	YIF1B (P124S +4 more)	Single nucleotide variant (missense variant)	Kaya-Barakat-Masson syndrome	GUncertain significance
Select item 2672762	NM_001039672.3(YIF1B):c.447C>G (p.Arg149=)	YIF1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3191489	NM_001039672.3(YIF1B):c.439G>T (p.Ala147Ser)	YIF1B (A116S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613494	NM_001039672.3(YIF1B):c.397C>T (p.His133Tyr)	YIF1B (H130Y +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 988954	NM_001039672.3(YIF1B):c.367A>C (p.Lys123Gln)	YIF1B (K123Q +4 more)	Single nucleotide variant (missense variant)	Kaya-Barakat-Masson syndrome	GPathogenic
Select item 988950	NM_001039672.3(YIF1B):c.360_361insACAT (p.Gly121fs)	YIF1B (G104fs +4 more)	Insertion (frameshift variant)	Kaya-Barakat-Masson syndrome	GPathogenic
Select item 985859	NM_001039672.3(YIF1B):c.334T>G (p.Tyr112Asp)	YIF1B (Y109D +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3191488	NM_001039672.3(YIF1B):c.298A>G (p.Ile100Val)	YIF1B (I100V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3191487	NM_001039672.3(YIF1B):c.253G>A (p.Gly85Arg)	YIF1B (G85R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2649788	NM_001039672.3(YIF1B):c.228G>A (p.Pro76=)	YIF1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2591233	NM_001039672.3(YIF1B):c.200C>T (p.Thr67Met)	YIF1B (T36M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544515	NM_001039672.3(YIF1B):c.188C>G (p.Ala63Gly)	YIF1B (A46G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985308	NM_001039672.3(YIF1B):c.186dup (p.Ala63fs)	YIF1B (A32fs +4 more)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2592740	NM_001039672.3(YIF1B):c.176T>A (p.Leu59Gln)	YIF1B (L42Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352253	NM_001039672.3(YIF1B):c.161G>A (p.Arg54Gln)	YIF1B (R54Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228580	NM_001039672.3(YIF1B):c.130T>G (p.Ser44Ala)	YIF1B (S13A +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264207	NM_001039672.3(YIF1B):c.112C>G (p.Leu38Val)	YIF1B (L38V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527075	NM_001039672.3(YIF1B):c.59C>G (p.Pro20Arg)	YIF1B (A3G +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3287698	NM_004823.3(KCNK6):c.64G>T (p.Ala22Ser)	KCNK6, YIF1B (A22S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619184	NM_004823.3(KCNK6):c.77C>T (p.Ala26Val)	KCNK6, YIF1B (A26V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250541	NM_004823.3(KCNK6):c.115G>C (p.Glu39Gln)	KCNK6, YIF1B (E39Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287695	NM_004823.3(KCNK6):c.149G>A (p.Arg50His)	KCNK6, YIF1B (R50H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554221	NM_004823.3(KCNK6):c.155C>A (p.Pro52Gln)	KCNK6, YIF1B (P52Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536112	NM_004823.3(KCNK6):c.155C>T (p.Pro52Leu)	KCNK6, YIF1B (P52L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232875	NM_004823.3(KCNK6):c.208G>C (p.Gly70Arg)	KCNK6, YIF1B (G70R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336530	NM_004823.3(KCNK6):c.232G>A (p.Ala78Thr)	KCNK6, YIF1B (A78T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113414	NM_004823.3(KCNK6):c.237C>A (p.Asn79Lys)	KCNK6, YIF1B (N79K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2423269	NC_000019.9:g.(?_38375572)_(39738787_?)dup	DPF1, ECH1 +34 more	Duplication	RYR1-related disorder	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 816081	GRCh37/hg19 19q13.13-13.2(chr19:38512717-39291526)x3	ACTN4, C19orf33 +18 more	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 564580	GRCh37/hg19 19q13.2(chr19:38752265-38844709)x1	SPINT2, YIF1B +3 more	Copy number loss	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 253452	GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3	DPF1, DYRK1B +105 more	Copy number gain	See cases	GPathogenic

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Items: 59