IFT70A[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 more	Copy number loss	See cases	GPathogenic
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 150849	GRCh38/hg38 2q31.1-31.2(chr2:171513047-177854080)x1	AGPS, ATF2 +214 more	Copy number loss	See cases	GPathogenic
Select item 58767	GRCh38/hg38 2q31.1-31.2(chr2:173408061-177702487)x1	AGPS, ATF2 +150 more	Copy number loss	See cases	GPathogenic
Select item 155530	GRCh38/hg38 2q31.1-31.3(chr2:174236451-181188846)x1	AGPS, ATF2 +224 more	Copy number loss	See cases	GPathogenic
Select item 147705	GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1	AGPS, ATF2 +307 more	Copy number loss	See cases	GPathogenic
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 2319704	NM_152275.4(IFT70A):c.1990A>C (p.Asn664His)	IFT70A (N664H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547399	NM_152275.4(IFT70A):c.1925G>A (p.Gly642Glu)	IFT70A (G642E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108426	NM_152275.4(IFT70A):c.1843T>C (p.Phe615Leu)	IFT70A (F615L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285445	NM_152275.4(IFT70A):c.1795A>C (p.Lys599Gln)	IFT70A (K599Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365084	NM_152275.4(IFT70A):c.1783G>A (p.Glu595Lys)	IFT70A (E595K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108425	NM_152275.4(IFT70A):c.1666G>A (p.Ala556Thr)	IFT70A (A556T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108424	NM_152275.4(IFT70A):c.1602T>A (p.Asp534Glu)	IFT70A (D534E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315080	NM_152275.4(IFT70A):c.1472A>G (p.Asp491Gly)	IFT70A (D491G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359797	NM_152275.4(IFT70A):c.1435A>G (p.Ile479Val)	IFT70A (I479V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108422	NM_152275.4(IFT70A):c.1351G>C (p.Val451Leu)	IFT70A (V451L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599238	NM_152275.4(IFT70A):c.1322C>T (p.Pro441Leu)	IFT70A (P441L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258336	NM_152275.4(IFT70A):c.1270A>G (p.Ile424Val)	IFT70A (I424V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244939	NM_152275.4(IFT70A):c.1222G>C (p.Ala408Pro)	IFT70A (A408P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108421	NM_152275.4(IFT70A):c.1205A>G (p.His402Arg)	IFT70A (H402R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540038	NM_152275.4(IFT70A):c.1193A>G (p.Gln398Arg)	IFT70A (Q398R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610909	NM_152275.4(IFT70A):c.1189G>A (p.Val397Ile)	IFT70A (V397I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285443	NM_152275.4(IFT70A):c.1174A>G (p.Arg392Gly)	IFT70A (R392G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108420	NM_152275.4(IFT70A):c.1160C>G (p.Thr387Ser)	IFT70A (T387S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108432	NM_152275.4(IFT70A):c.970G>A (p.Gly324Ser)	IFT70A (G324S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108430	NM_152275.4(IFT70A):c.888G>C (p.Met296Ile)	IFT70A (M296I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410352	NM_152275.4(IFT70A):c.862G>C (p.Val288Leu)	IFT70A (V288L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541809	NM_152275.4(IFT70A):c.835C>T (p.Pro279Ser)	IFT70A (P279S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108429	NM_152275.4(IFT70A):c.812A>G (p.Gln271Arg)	IFT70A (Q271R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108427	NM_152275.4(IFT70A):c.727T>G (p.Leu243Val)	IFT70A (L243V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285444	NM_152275.4(IFT70A):c.609G>T (p.Gln203His)	IFT70A (Q203H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2603136	NM_152275.4(IFT70A):c.477C>G (p.Asn159Lys)	IFT70A (N159K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403992	NM_152275.4(IFT70A):c.476A>C (p.Asn159Thr)	IFT70A (N159T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279655	NM_152275.4(IFT70A):c.455A>G (p.Asn152Ser)	IFT70A (N152S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363965	NM_152275.4(IFT70A):c.392G>A (p.Gly131Glu)	IFT70A (G131E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313142	NM_152275.4(IFT70A):c.341G>A (p.Arg114Gln)	IFT70A (R114Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543142	NM_152275.4(IFT70A):c.269A>G (p.Tyr90Cys)	IFT70A (Y90C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108423	NM_152275.4(IFT70A):c.146C>G (p.Ser49Trp)	IFT70A (S49W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108431	NM_152275.4(IFT70A):c.94C>G (p.Gln32Glu)	IFT70A (Q32E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108428	NM_152275.4(IFT70A):c.74C>A (p.Ala25Asp)	IFT70A (A25D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285442	NM_152275.4(IFT70A):c.62T>A (p.Leu21His)	IFT70A (L21H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395134	NM_152275.4(IFT70A):c.16G>T (p.Gly6Cys)	IFT70A (G6C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360783	NM_152275.4(IFT70A):c.15C>G (p.Ser5Arg)	IFT70A (S5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247478	NC_000002.11:g.(?_178257518)_(179914668_?)del	AGPS, CCDC141 +10 more	Deletion	not provided	GPathogenic
Select item 2425519	NC_000002.11:g.(?_178095513)_(179914668_?)dup	AGPS, CCDC141 +11 more	Duplication	not provided	GUncertain significance
Select item 2424718	NC_000002.11:g.(?_178095513)_(179914668_?)del	AGPS, CCDC141 +11 more	Deletion	not provided	GUncertain significance
Select item 2424717	NC_000002.11:g.(?_178095513)_(178705130_?)dup	AGPS, IFT70A +3 more	Duplication	not provided	GUncertain significance
Select item 1808725	GRCh37/hg19 2q31.1-31.3(chr2:175143352-180999636)x1	AGPS, ATF2 +38 more	Copy number loss	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1695396	Single allele	AGPS, ATF2 +47 more	Deletion	Split hand-foot malformation 5	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1340258	GRCh37/hg19 2q31.2(chr2:178416680-178482698)x1	IFT70A, IFT70B	Copy number loss	not provided	GUncertain significance
Select item 1047877	GRCh37/hg19 2q31.1-31.3(chr2:171999572-182774361)	PJVK, RBM45 +60 more	Copy number loss	3-4 finger osseus syndactyly +1 more	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 981210	GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1	ABCB11, AGPS +97 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 814347	GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1	AGPS, ANKAR +86 more	Copy number loss	not provided	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 687517	GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	ABCB11, AGPS +125 more	Copy number loss	not provided	GPathogenic
Select item 685829	GRCh37/hg19 2q31.1-32.1(chr2:173538954-186401606)x1	AGPS, ATF2 +56 more	Copy number loss	not provided	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic
Select item 252975	GRCh37/hg19 2q31.1-32.3(chr2:177315153-196375520)x1	AGPS, ANKAR +62 more	Copy number loss	See cases	GPathogenic

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Items: 67