IFT70B[gene] and "single gene"[properties] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3108444	NM_152517.3(IFT70B):c.1934C>T (p.Thr645Ile)	IFT70B (T645I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108443	NM_152517.3(IFT70B):c.1921G>A (p.Val641Ile)	IFT70B (V641I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3108442	NM_152517.3(IFT70B):c.1876A>T (p.Ile626Leu)	IFT70B (I626L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312810	NM_152517.3(IFT70B):c.1861C>G (p.Leu621Val)	IFT70B (L621V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407065	NM_152517.3(IFT70B):c.1775C>T (p.Ser592Phe)	IFT70B (S592F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609229	NM_152517.3(IFT70B):c.1763G>C (p.Arg588Thr)	IFT70B (R588T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318828	NM_152517.3(IFT70B):c.1725C>G (p.Asn575Lys)	IFT70B (N575K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108441	NM_152517.3(IFT70B):c.1714G>A (p.Glu572Lys)	IFT70B (E572K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651567	NM_152517.3(IFT70B):c.1613A>G (p.Lys538Arg)	IFT70B (K538R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2250164	NM_152517.3(IFT70B):c.1606C>G (p.Pro536Ala)	IFT70B (P536A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108438	NM_152517.3(IFT70B):c.1603G>A (p.Asp535Asn)	IFT70B (D535N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283467	NM_152517.3(IFT70B):c.1522T>C (p.Tyr508His)	IFT70B (Y508H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108437	NM_152517.3(IFT70B):c.1342C>T (p.Arg448Cys)	IFT70B (R448C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108435	NM_152517.3(IFT70B):c.1258A>G (p.Met420Val)	IFT70B (M420V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356527	NM_152517.3(IFT70B):c.1114C>T (p.Pro372Ser)	IFT70B (P372S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108434	NM_152517.3(IFT70B):c.1096A>G (p.Ile366Val)	IFT70B (I366V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108433	NM_152517.3(IFT70B):c.1072C>T (p.Leu358Phe)	IFT70B (L358F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379195	NM_152517.3(IFT70B):c.1034A>C (p.Glu345Ala)	IFT70B (E345A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293833	NM_152517.3(IFT70B):c.886A>G (p.Met296Val)	IFT70B (M296V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356217	NM_152517.3(IFT70B):c.880G>A (p.Ala294Thr)	IFT70B (A294T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259657	NM_152517.3(IFT70B):c.850G>A (p.Glu284Lys)	IFT70B (E284K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651568	NM_152517.3(IFT70B):c.777T>C (p.Ala259=)	IFT70B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3108449	NM_152517.3(IFT70B):c.767T>G (p.Leu256Arg)	IFT70B (L256R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268659	NM_152517.3(IFT70B):c.709C>T (p.Arg237Cys)	IFT70B (R237C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038392	NM_152517.3(IFT70B):c.701T>C (p.Ile234Thr)	IFT70B (I234T)	Single nucleotide variant (missense variant)	IFT70B-related disorder	GLikely benign
Select item 2285903	NM_152517.3(IFT70B):c.700A>T (p.Ile234Phe)	IFT70B (I234F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536234	NM_152517.3(IFT70B):c.677G>C (p.Gly226Ala)	IFT70B (G226A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556569	NM_152517.3(IFT70B):c.673C>A (p.Leu225Ile)	IFT70B (L225I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608628	NM_152517.3(IFT70B):c.642T>G (p.Ile214Met)	IFT70B (I214M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108448	NM_152517.3(IFT70B):c.608A>G (p.Gln203Arg)	IFT70B (Q203R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348066	NM_152517.3(IFT70B):c.542T>A (p.Leu181Gln)	IFT70B (L181Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232717	NM_152517.3(IFT70B):c.538G>A (p.Ala180Thr)	IFT70B (A180T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232716	NM_152517.3(IFT70B):c.533T>C (p.Phe178Ser)	IFT70B (F178S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3108447	NM_152517.3(IFT70B):c.509A>G (p.Tyr170Cys)	IFT70B (Y170C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108446	NM_152517.3(IFT70B):c.476A>T (p.Asn159Ile)	IFT70B (N159I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059421	NM_152517.3(IFT70B):c.350G>A (p.Arg117His)	IFT70B (R117H)	Single nucleotide variant (missense variant)	IFT70B-related disorder	GBenign
Select item 2623298	NM_152517.3(IFT70B):c.337A>C (p.Ser113Arg)	IFT70B (S113R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239289	NM_152517.3(IFT70B):c.272A>C (p.Lys91Thr)	IFT70B (K91T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060728	NM_152517.3(IFT70B):c.267G>A (p.Leu89=)	IFT70B	Single nucleotide variant (synonymous variant)	IFT70B-related disorder	GBenign
Select item 3108440	NM_152517.3(IFT70B):c.166T>C (p.Tyr56His)	IFT70B (Y56H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108439	NM_152517.3(IFT70B):c.160T>G (p.Cys54Gly)	IFT70B (C54G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108436	NM_152517.3(IFT70B):c.128G>A (p.Arg43Lys)	IFT70B (R43K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550946	NM_152517.3(IFT70B):c.113T>C (p.Leu38Pro)	IFT70B (L38P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2286903	NM_152517.3(IFT70B):c.106G>C (p.Gly36Arg)	IFT70B (G36R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3108451	NM_152517.3(IFT70B):c.86A>C (p.Glu29Ala)	IFT70B (E29A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552133	NM_152517.3(IFT70B):c.76C>T (p.Arg26Cys)	IFT70B (R26C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108445	NM_152517.3(IFT70B):c.28C>G (p.Pro10Ala)	IFT70B (P10A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 47