INO80D[gene] - ClinVar

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Items: 78

	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	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +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	LOC129935480, LOC129935481 +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 150331	GRCh38/hg38 2q33.3(chr2:205163962-206491669)x4	ADAM23, CMKLR2 +30 more	Copy number gain	See cases	GLikely pathogenic
Select item 2565446	NM_017759.5(INO80D):c.3053A>G (p.Asn1018Ser)	INO80D (N1018S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314364	NM_017759.5(INO80D):c.2852C>G (p.Thr951Ser)	INO80D (T951S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516664	NM_017759.5(INO80D):c.2809G>A (p.Val937Met)	INO80D (V937M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382235	NM_017759.5(INO80D):c.2803G>A (p.Ala935Thr)	INO80D (A935T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249620	NM_017759.5(INO80D):c.2768C>T (p.Thr923Ile)	INO80D (T923I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109765	NM_017759.5(INO80D):c.2696A>G (p.Asp899Gly)	INO80D (D899G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313979	NM_017759.5(INO80D):c.2641G>A (p.Gly881Arg)	INO80D (G881R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349261	NM_017759.5(INO80D):c.2501A>G (p.His834Arg)	INO80D (H834R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288314	NM_017759.5(INO80D):c.2348A>G (p.Gln783Arg)	INO80D (Q783R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109764	NM_017759.5(INO80D):c.2339T>C (p.Phe780Ser)	INO80D (F780S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109762	NM_017759.5(INO80D):c.2261G>T (p.Gly754Val)	INO80D (G754V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109761	NM_017759.5(INO80D):c.2237C>T (p.Thr746Ile)	INO80D (T746I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353369	NM_017759.5(INO80D):c.2120G>A (p.Arg707Gln)	INO80D (R707Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268245	NM_017759.5(INO80D):c.2066G>A (p.Gly689Glu)	INO80D (G689E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474762	NM_017759.5(INO80D):c.2032G>C (p.Asp678His)	INO80D (D678H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600919	NM_017759.5(INO80D):c.2012T>C (p.Ile671Thr)	INO80D (I671T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651834	NM_017759.5(INO80D):c.1813A>G (p.Asn605Asp)	INO80D (N605D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2284187	NM_017759.5(INO80D):c.1759C>T (p.Arg587Trp)	INO80D (R587W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771130	NM_017759.5(INO80D):c.1754A>G (p.His585Arg)	INO80D (H585R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2374671	NM_017759.5(INO80D):c.1666C>T (p.Arg556Cys)	INO80D (R556C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109760	NM_017759.5(INO80D):c.1571G>A (p.Arg524His)	INO80D (R524H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109759	NM_017759.5(INO80D):c.1351G>A (p.Val451Met)	INO80D (V451M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304334	NM_017759.5(INO80D):c.1348A>T (p.Thr450Ser)	INO80D (T450S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220267	NM_017759.5(INO80D):c.1300A>G (p.Ile434Val)	INO80D (I434V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235013	NM_017759.5(INO80D):c.1246T>A (p.Cys416Ser)	INO80D (C416S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109758	NM_017759.5(INO80D):c.1196G>A (p.Arg399Gln)	INO80D (R399Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481195	NM_017759.5(INO80D):c.1097G>A (p.Ser366Asn)	INO80D (S366N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377303	NM_017759.5(INO80D):c.1072G>A (p.Ala358Thr)	INO80D (A358T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2494029	NM_017759.5(INO80D):c.1052C>A (p.Thr351Asn)	INO80D (T351N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515590	NM_017759.5(INO80D):c.1046G>A (p.Arg349Gln)	INO80D (R349Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400172	NM_017759.5(INO80D):c.1024T>C (p.Tyr342His)	INO80D (Y342H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109757	NM_017759.5(INO80D):c.1012C>G (p.Gln338Glu)	INO80D (Q338E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289680	NM_017759.5(INO80D):c.1007C>T (p.Ser336Leu)	INO80D (S336L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109771	NM_017759.5(INO80D):c.985A>G (p.Ser329Gly)	INO80D (S329G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109770	NM_017759.5(INO80D):c.920G>A (p.Cys307Tyr)	INO80D (C307Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773432	NM_017759.5(INO80D):c.896G>A (p.Arg299Gln)	INO80D (R299Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3109769	NM_017759.5(INO80D):c.882C>G (p.Phe294Leu)	INO80D (F294L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212606	NM_017759.5(INO80D):c.833C>G (p.Pro278Arg)	INO80D (P278R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538424	NM_017759.5(INO80D):c.769C>G (p.Gln257Glu)	INO80D (Q257E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109768	NM_017759.5(INO80D):c.764C>T (p.Ala255Val)	INO80D (A255V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109767	NM_017759.5(INO80D):c.668C>T (p.Ala223Val)	INO80D (A223V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109766	NM_017759.5(INO80D):c.421C>T (p.His141Tyr)	INO80D (H141Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554285	NM_017759.5(INO80D):c.383G>C (p.Gly128Ala)	INO80D (G128A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222357	NM_017759.5(INO80D):c.298G>A (p.Val100Met)	INO80D (V100M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529663	NM_017759.5(INO80D):c.219G>C (p.Arg73Ser)	INO80D (R73S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247412	NM_017759.5(INO80D):c.145A>G (p.Lys49Glu)	INO80D (K49E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486936	NM_017759.5(INO80D):c.20T>C (p.Ile7Thr)	INO80D (I7T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062594	GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1	ABI2, ACADL +95 more	Copy number loss	not specified	GPathogenic
Select item 3062492	GRCh37/hg19 2q33.3(chr2:206042721-207004795)x1	INO80D, NDUFS1 +2 more	Copy number loss	not specified	GUncertain significance
Select item 3062481	GRCh37/hg19 2q33.2-34(chr2:204110688-211638554)x1	ABI2, ACADL +38 more	Copy number loss	not specified	GPathogenic
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 1808483	GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1	ABI2, ADAM23 +107 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 1703524	GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	ABI2, ACADL +127 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1526943	GRCh37/hg19 2q33.1-34(chr2:200851079-209054267)	ABI2, ADAM23 +58 more	Copy number loss	not specified	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1511552	NC_000002.11:g.(?_203420070)_(211811277_?)del	CREB1, CRYGA +44 more	Deletion	Primary pulmonary hypertension	GUncertain significance
Select item 1340613	GRCh37/hg19 2q33.3(chr2:206887779-207064790)x1	CMKLR2, EEF1B2 +2 more	Copy number loss	not provided	GUncertain significance
Select item 988910	GRCh37/hg19 2q33.2-33.3(chr2:204312776-208235204)x3	CD28, CMKLR2 +15 more	Copy number gain	not provided	GUncertain significance
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 979400	GRCh37/hg19 2q33.2-34(chr2:204445619-212580788)x1	ACADL, ADAM23 +36 more	Copy number loss	not provided	GPathogenic
Select item 974749	NC_000002.11:g.206875802_207000559del	INO80D, NDUFS1	Deletion	Megacolon	GUncertain significance
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 562677	GRCh37/hg19 2q33.3-35(chr2:205169148-219149293)x3	AAMP, ABCA12 +60 more	Copy number gain	not provided	GPathogenic
Select item 562632	GRCh37/hg19 2q33.3(chr2:205758734-206958189)x3	NRP2, INO80D +1 more	Copy number gain	not provided	GLikely benign
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

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Items: 78