UNC80[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 155234	GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1	ABI2, ADAM23 +298 more	Copy number loss	See cases	GPathogenic
Select item 152538	GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1	ABI2, ADAM23 +293 more	Copy number loss	See cases	GPathogenic
Select item 150829	GRCh38/hg38 2q33.3-34(chr2:204906843-210031449)x1	ADAM23, C2orf80 +131 more	Copy number loss	See cases	GPathogenic
Select item 150477	GRCh38/hg38 2q33.3-34(chr2:207058886-211245603)x1	ACADL, C2orf80 +96 more	Copy number loss	See cases	GPathogenic
Select item 1352691	NM_001371986.1(UNC80):c.-52_45dup (p.Arg16Ter)	UNC80 (R16*)	Duplication (nonsense +1 more)	not provided	GUncertain significance
Select item 2024432	NM_001371986.1(UNC80):c.3G>A (p.Met1Ile)	UNC80 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3331088	NM_001371986.1(UNC80):c.22G>A (p.Glu8Lys)	UNC80 (E8K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1361280	NM_001371986.1(UNC80):c.26G>C (p.Gly9Ala)	UNC80 (G9A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1356126	NM_001371986.1(UNC80):c.37G>A (p.Asp13Asn)	UNC80 (D13N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1366347	NM_001371986.1(UNC80):c.44G>A (p.Gly15Asp)	UNC80 (G15D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1345999	NM_001371986.1(UNC80):c.50G>T (p.Gly17Val)	UNC80 (G17V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2863050	NM_001371986.1(UNC80):c.51C>G (p.Gly17=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1630896	NM_001371986.1(UNC80):c.54C>T (p.Ile18=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1670291	NM_001371986.1(UNC80):c.58C>T (p.Leu20=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1901582	NM_001371986.1(UNC80):c.69G>T (p.Gln23His)	UNC80 (Q23H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1447100	NM_001371986.1(UNC80):c.70A>G (p.Thr24Ala)	UNC80 (T24A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2306177	NM_001371986.1(UNC80):c.71C>A (p.Thr24Asn)	UNC80 (T24N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2818403	NM_001371986.1(UNC80):c.82C>A (p.Arg28=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2785677	NM_001371986.1(UNC80):c.90C>T (p.Thr30=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2134578	NM_001371986.1(UNC80):c.92+5G>T	UNC80	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 710314	NM_001371986.1(UNC80):c.92+7G>A	UNC80	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2794785	NM_001371986.1(UNC80):c.92+8G>T	UNC80	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986355	NM_001371986.1(UNC80):c.92+10G>A	UNC80	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1546041	NM_001371986.1(UNC80):c.93-18T>C	UNC80	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2009349	NM_001371986.1(UNC80):c.93-8T>C	UNC80	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2095997	NM_001371986.1(UNC80):c.100T>C (p.Leu34=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2819883	NM_001371986.1(UNC80):c.105G>A (p.Arg35=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2476897	NM_001371986.1(UNC80):c.106C>A (p.Pro36Thr)	UNC80 (P36T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1490446	NM_001371986.1(UNC80):c.106C>G (p.Pro36Ala)	UNC80 (P36A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2128016	NM_001371986.1(UNC80):c.131C>T (p.Ala44Val)	UNC80 (A44V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2005926	NM_001371986.1(UNC80):c.137G>C (p.Cys46Ser)	UNC80 (C46S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2809453	NM_001371986.1(UNC80):c.141+7G>C	UNC80	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1446495	NM_001371986.1(UNC80):c.142-3C>T	UNC80	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 222017	NM_001371986.1(UNC80):c.151C>T (p.Arg51Ter)	UNC80 (R51*)	Single nucleotide variant (nonsense)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GPathogenic
Select item 1489916	NM_001371986.1(UNC80):c.152G>A (p.Arg51Gln)	UNC80 (R51Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1589629	NM_001371986.1(UNC80):c.156G>A (p.Val52=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1575902	NM_001371986.1(UNC80):c.159G>A (p.Leu53=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1518814	NM_001371986.1(UNC80):c.173T>C (p.Leu58Pro)	UNC80 (L58P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1629622	NM_001371986.1(UNC80):c.174G>T (p.Leu58=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 767847	NM_001371986.1(UNC80):c.180C>T (p.Gly60=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2122833	NM_001371986.1(UNC80):c.190G>C (p.Ala64Pro)	UNC80 (A64P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1469773	NM_001371986.1(UNC80):c.190G>A (p.Ala64Thr)	UNC80 (A64T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2165492	NM_001371986.1(UNC80):c.204C>T (p.Ala68=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2763956	NM_001371986.1(UNC80):c.207C>T (p.Ile69=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1539166	NM_001371986.1(UNC80):c.207C>A (p.Ile69=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1377584	NM_001371986.1(UNC80):c.217T>A (p.Ser73Thr)	UNC80 (S73T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2192693	NM_001371986.1(UNC80):c.222A>G (p.Arg74=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2806340	NM_001371986.1(UNC80):c.226G>A (p.Glu76Lys)	UNC80 (E76K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2101711	NM_001371986.1(UNC80):c.234G>A (p.Val78=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1441474	NM_001371986.1(UNC80):c.250C>T (p.His84Tyr)	UNC80 (H84Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1478702	NM_001371986.1(UNC80):c.256C>T (p.Leu86Phe)	UNC80 (L86F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3362748	NM_001371986.1(UNC80):c.265A>G (p.Thr89Ala)	UNC80 (T89A)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GUncertain significance
Select item 1373605	NM_001371986.1(UNC80):c.286C>T (p.Arg96Ter)	UNC80 (R96*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1363706	NM_001371986.1(UNC80):c.297A>G (p.Leu99=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1518518	NM_001371986.1(UNC80):c.298+2T>C	UNC80	Single nucleotide variant (splice donor variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +2 more	GConflicting classifications of pathogenicity
Select item 2124866	NM_001371986.1(UNC80):c.298+3T>C	UNC80	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1622278	NM_001371986.1(UNC80):c.298+11C>T	UNC80	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1564918	NM_001371986.1(UNC80):c.298+11C>G	UNC80	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1635254	NM_001371986.1(UNC80):c.298+14A>G	UNC80	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1544462	NM_001371986.1(UNC80):c.299-17G>A	UNC80	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1427779	NM_001371986.1(UNC80):c.299-13T>G	UNC80	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2074386	NM_001371986.1(UNC80):c.299-10T>G	UNC80	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1353675	NM_001371986.1(UNC80):c.299-10T>C	UNC80	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1611479	NM_001371986.1(UNC80):c.299-9C>T	UNC80	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1544111	NM_001371986.1(UNC80):c.313T>C (p.Leu105=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2810428	NM_001371986.1(UNC80):c.321T>A (p.Val107=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1995580	NM_001371986.1(UNC80):c.336C>T (p.Leu112=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1423462	NM_001371986.1(UNC80):c.355A>T (p.Met119Leu)	UNC80 (M119L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3331094	NM_001371986.1(UNC80):c.356T>A (p.Met119Lys)	UNC80 (M119K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2799051	NM_001371986.1(UNC80):c.372C>G (p.Pro124=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1383011	NM_001371986.1(UNC80):c.373C>A (p.Gln125Lys)	UNC80 (Q125K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1544015	NM_001371986.1(UNC80):c.375G>A (p.Gln125=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1517568	NM_001371986.1(UNC80):c.383A>G (p.Asn128Ser)	UNC80 (N128S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1433802	NM_001371986.1(UNC80):c.386A>G (p.Asn129Ser)	UNC80 (N129S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015409	NM_001371986.1(UNC80):c.390G>A (p.Glu130=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 784460	NM_001371986.1(UNC80):c.391C>T (p.Arg131Trp)	UNC80 (R131W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1956389	NM_001371986.1(UNC80):c.393G>A (p.Arg131=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1423261	NM_001371986.1(UNC80):c.397G>A (p.Gly133Arg)	UNC80 (G133R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1494612	NM_001371986.1(UNC80):c.398G>T (p.Gly133Val)	UNC80 (G133V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1372385	NM_001371986.1(UNC80):c.398G>C (p.Gly133Ala)	UNC80 (G133A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 397629	NM_001371986.1(UNC80):c.400G>A (p.Gly134Ser)	UNC80 (G134S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 624174	NM_001371986.1(UNC80):c.404C>T (p.Thr135Ile)	UNC80 (T135I)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 993028	NM_001371986.1(UNC80):c.409C>T (p.Arg137Ter)	UNC80 (R137*)	Single nucleotide variant (nonsense)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more	GPathogenic
Select item 1917786	NM_001371986.1(UNC80):c.410G>A (p.Arg137Gln)	UNC80 (R137Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1299434	NM_001371986.1(UNC80):c.416C>T (p.Ser139Phe)	UNC80 (S139F)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GUncertain significance
Select item 1952272	NM_001371986.1(UNC80):c.422G>A (p.Trp141Ter)	UNC80 (W141*)	Single nucleotide variant (nonsense)	UNC80-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 2051016	NM_001371986.1(UNC80):c.425G>A (p.Gly142Asp)	UNC80 (G142D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2166443	NM_001371986.1(UNC80):c.435C>T (p.Ser145=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2000051	NM_001371986.1(UNC80):c.444C>A (p.Phe148Leu)	UNC80 (F148L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1419252	NM_001371986.1(UNC80):c.448C>A (p.His150Asn)	UNC80 (H150N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1485876	NM_001371986.1(UNC80):c.458A>T (p.Glu153Val)	UNC80 (E153V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960610	NM_001371986.1(UNC80):c.462C>T (p.Asn154=)	UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2048373	NM_001371986.1(UNC80):c.467G>T (p.Gly156Val)	UNC80 (G156V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2057799	NM_001371986.1(UNC80):c.476G>A (p.Gly159Glu)	UNC80 (G159E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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