IFT88[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 153719	GRCh38/hg38 13q11-12.11(chr13:18862146-22489174)x3	CRYL1, EEF1AKMT1 +116 more	Copy number gain	See cases	GPathogenic
Select item 153502	GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3	LOC126861730, LOC126861731 +489 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 59861	GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3	LOC130009490, LOC130009491 +416 more	Copy number gain	See cases	GPathogenic
Select item 155130	GRCh38/hg38 13q12.11-12.13(chr13:19671934-24985872)x1	ATP12A, C1QTNF9 +181 more	Copy number loss	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC132090185, LOC132090186 +621 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 147997	GRCh38/hg38 13q12.11(chr13:19837395-21967789)x1	CRYL1, EEF1AKMT1 +84 more	Copy number loss	See cases	GUncertain significance
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 145365	GRCh38/hg38 13q12.11(chr13:19885283-22014498)x1	CRYL1, EEF1AKMT1 +79 more	Copy number loss	See cases	GPathogenic
Select item 57615	GRCh38/hg38 13q12.11(chr13:20026650-21967789)x1	SAP18, SKA3 +75 more	Copy number loss	See cases	GPathogenic
Select item 656832	NC_000013.10:g.(?_20716100)_(21398980_?)dup	LOC130009329, LOC132090175 +32 more	Duplication	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GUncertain significance
Select item 150234	GRCh38/hg38 13q12.11(chr13:20179998-20605371)x1	CRYL1, GJB2 +19 more	Copy number loss	See cases	GUncertain significance
Select item 152699	GRCh38/hg38 13q12.11(chr13:20234405-20796089)x3	CRYL1, EEF1AKMT1 +24 more	Copy number gain	See cases	GUncertain significance
Select item 155024	GRCh38/hg38 13q12.11(chr13:20344898-21521293)x1	CRYL1, EEF1AKMT1 +46 more	Copy number loss	See cases	GUncertain significance
Select item 1257994	NM_006531.5(IFT88):c.-7+427A>G	IFT88	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1951546	NM_006531.5(IFT88):c.-7+721A>G	IFT88 (M1V)	Single nucleotide variant (missense variant +4 more)	not provided	GUncertain significance
Select item 1394194	NM_006531.5(IFT88):c.-7+736A>G	IFT88 (T6A)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2804107	NM_006531.5(IFT88):c.-7+739A>G	IFT88 (K7E)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1585380	NM_006531.5(IFT88):c.-7+746C>T	IFT88	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2909713	NM_006531.5(IFT88):c.-7+751G>A	IFT88	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1621295	NM_006531.5(IFT88):c.-7+765dup	IFT88	Duplication (intron variant)	not provided	GBenign
Select item 2022621	NM_006531.5(IFT88):c.-6-12A>G	IFT88	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1928380	NM_006531.5(IFT88):c.-6-11G>A	IFT88	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2715014	NM_006531.5(IFT88):c.1A>G (p.Met1Val)	IFT88 (M1V +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1965773	NM_006531.5(IFT88):c.18C>G (p.His6Gln)	IFT88 (H15Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2522041	NM_006531.5(IFT88):c.25C>T (p.Pro9Ser)	IFT88 (P9S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1918728	NM_006531.5(IFT88):c.54C>T (p.Ser18=)	IFT88	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2087057	NM_006531.5(IFT88):c.66C>T (p.Asp22=)	IFT88	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1964871	NM_006531.5(IFT88):c.68A>G (p.Tyr23Cys)	IFT88 (Y32C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2902025	NM_006531.5(IFT88):c.71A>G (p.Asn24Ser)	IFT88 (N24S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2520494	NM_006531.5(IFT88):c.74C>T (p.Pro25Leu)	IFT88 (P25L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2098096	NM_006531.5(IFT88):c.79T>G (p.Tyr27Asp)	IFT88 (Y27D +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2135675	NM_006531.5(IFT88):c.80A>C (p.Tyr27Ser)	IFT88 (Y36S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1591717	NM_006531.5(IFT88):c.86T>C (p.Ile29Thr)	IFT88 (I29T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1643566	NM_006531.5(IFT88):c.87C>T (p.Ile29=)	IFT88	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2189869	NM_006531.5(IFT88):c.88G>A (p.Glu30Lys)	IFT88 (E30K +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1896470	NM_006531.5(IFT88):c.91-14C>T	IFT88	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1908637	NM_006531.5(IFT88):c.91-13G>A	IFT88	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2069573	NM_006531.5(IFT88):c.91G>A (p.Glu31Lys)	IFT88 (E31K +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2190455	NM_006531.5(IFT88):c.92A>T (p.Glu31Val)	IFT88 (E31V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1967664	NM_006531.5(IFT88):c.110C>G (p.Ala37Gly)	IFT88 (A37G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1994369	NM_006531.5(IFT88):c.124G>A (p.Val42Met)	IFT88 (V42M +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2557256	NM_006531.5(IFT88):c.134G>T (p.Ser45Ile)	IFT88 (S45I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3009328	NM_006531.5(IFT88):c.135T>G (p.Ser45Arg)	IFT88 (S45R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2721975	NM_006531.5(IFT88):c.135T>C (p.Ser45=)	IFT88	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2102342	NM_006531.5(IFT88):c.153+13A>C	IFT88	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1990348	NM_006531.5(IFT88):c.153+14A>T	IFT88	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1898901	NM_006531.5(IFT88):c.153+15T>A	IFT88	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1596724	NM_006531.5(IFT88):c.153+22del	IFT88	Deletion (intron variant)	not provided	GBenign
Select item 1586782	NM_006531.5(IFT88):c.154-9C>T	IFT88	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2040991	NM_006531.5(IFT88):c.154-4del	IFT88	Deletion (intron variant)	not provided	GBenign
Select item 1916661	NM_006531.5(IFT88):c.176C>T (p.Thr59Met)	IFT88 (T68M +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1939791	NM_006531.5(IFT88):c.177G>A (p.Thr59=)	IFT88	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2106768	NM_006531.5(IFT88):c.194T>C (p.Ile65Thr)	IFT88 (I65T +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2813816	NM_006531.5(IFT88):c.197C>G (p.Ala66Gly)	IFT88 (A66G +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1908071	NM_006531.5(IFT88):c.206A>T (p.Tyr69Phe)	IFT88 (Y69F +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2959039	NM_006531.5(IFT88):c.210G>A (p.Gly70=)	IFT88	Single nucleotide variant (synonymous variant +3 more)	not provided	GUncertain significance
Select item 2775985	NM_006531.5(IFT88):c.210+17T>C	IFT88	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2200442	NM_006531.5(IFT88):c.211-5A>G	IFT88	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1483263	NM_006531.5(IFT88):c.215A>C (p.Lys72Thr)	IFT88 (K53T +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1947980	NM_006531.5(IFT88):c.218C>T (p.Thr73Ile)	IFT88 (T73I +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2190388	NM_006531.5(IFT88):c.226G>A (p.Ala76Thr)	IFT88 (A57T +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2311156	NM_006531.5(IFT88):c.227C>T (p.Ala76Val)	IFT88 (A76V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2908645	NM_006531.5(IFT88):c.230_231inv (p.Ser77Leu)	IFT88 (S58L +2 more)	Inversion (missense variant +2 more)	not provided	GUncertain significance
Select item 2215358	NM_006531.5(IFT88):c.235A>G (p.Ile79Val)	IFT88 (I79V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2180525	NM_006531.5(IFT88):c.243A>G (p.Arg81=)	IFT88	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1661742	NM_006531.5(IFT88):c.244C>T (p.Pro82Ser)	IFT88 (P63S +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 1558945	NM_006531.5(IFT88):c.246A>C (p.Pro82=)	IFT88	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2991251	NM_006531.5(IFT88):c.247A>G (p.Met83Val)	IFT88 (M64V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1593767	NM_006531.5(IFT88):c.250A>G (p.Thr84Ala)	IFT88 (T65A +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1913459	NM_006531.5(IFT88):c.252_253del (p.Ala86fs)	IFT88 (A67fs +2 more)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 2103320	NM_006531.5(IFT88):c.257C>G (p.Ala86Gly)	IFT88 (A95G +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2177563	NM_006531.5(IFT88):c.259A>C (p.Ile87Leu)	IFT88 (I68L +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1363061	NM_006531.5(IFT88):c.259A>G (p.Ile87Val)	IFT88 (I68V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1630764	NM_006531.5(IFT88):c.264+9A>G	IFT88	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2052134	NM_006531.5(IFT88):c.264+16G>A	IFT88	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1627972	NM_006531.5(IFT88):c.264+18A>G	IFT88	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2038799	NM_006531.5(IFT88):c.265-15C>T	IFT88	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1495917	NM_006531.5(IFT88):c.265-9T>C	IFT88	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2121832	NM_006531.5(IFT88):c.265-7T>C	IFT88	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2088252	NM_006531.5(IFT88):c.266A>G (p.Asp89Gly)	IFT88 (D89G +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1903794	NM_006531.5(IFT88):c.266A>T (p.Asp89Val)	IFT88 (D89V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1560670	NM_006531.5(IFT88):c.270A>G (p.Gly90=)	IFT88	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2176288	NM_006531.5(IFT88):c.283A>G (p.Met95Val)	IFT88 (M95V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2849992	NM_006531.5(IFT88):c.305G>A (p.Gly102Asp)	IFT88 (G102D +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2022539	NM_006531.5(IFT88):c.309dup (p.Thr104fs)	IFT88 (T85fs +2 more)	Duplication (frameshift variant +2 more)	not provided	GUncertain significance
Select item 781097	NM_006531.5(IFT88):c.315A>G (p.Lys105=)	IFT88	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3021232	NM_006531.5(IFT88):c.328+11C>G	IFT88	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2022711	NM_006531.5(IFT88):c.328+12T>C	IFT88	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1606232	NM_006531.5(IFT88):c.328+15C>G	IFT88	Single nucleotide variant (intron variant)	not provided	GLikely benign

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