26048[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 60380	GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1	LOC130000705, LOC130000706 +327 more	Copy number loss	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 60383	GRCh38/hg38 8q21.3-22.1(chr8:92283179-95786443)x1	CCNE2, CDH17 +109 more	Copy number loss	See cases	GPathogenic
Select item 60386	GRCh38/hg38 8q21.3-22.1(chr8:92287062-95786443)x1	CCNE2, CDH17 +109 more	Copy number loss	See cases	GPathogenic
Select item 60387	GRCh38/hg38 8q22.1(chr8:92755532-97792132)x1	CPQ, DPY19L4 +139 more	Copy number loss	See cases	GPathogenic
Select item 147309	GRCh38/hg38 8q22.1(chr8:93038175-95667782)x1	CCNE2, CDH17 +98 more	Copy number loss	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 2658697	NC_000008.11:g.94822929A>G	INTS8	Single nucleotide variant	not provided	GBenign
Select item 3055544	NM_017864.4(INTS8):c.131-9A>G	INTS8	Single nucleotide variant (intron variant)	INTS8-related disorder	GBenign
Select item 2229859	NM_017864.4(INTS8):c.158A>T (p.Gln53Leu)	INTS8 (Q53L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 161711	NM_017864.4(INTS8):c.166del (p.Glu56fs)	INTS8 (E56fs)	Deletion (frameshift variant +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 2553432	NM_017864.4(INTS8):c.210A>C (p.Gln70His)	INTS8 (Q70H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317855	NM_017864.4(INTS8):c.227A>G (p.Lys76Arg)	INTS8 (K76R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3040489	NM_017864.4(INTS8):c.300G>A (p.Glu100=)	INTS8	Single nucleotide variant (synonymous variant +1 more)	INTS8-related disorder	GLikely benign
Select item 932482	NM_017864.4(INTS8):c.333A>G (p.Leu111=)	INTS8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2229582	NM_017864.4(INTS8):c.397G>A (p.Ala133Thr)	INTS8 (A133T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 207857	NM_017864.4(INTS8):c.484A>C (p.Lys162Gln)	INTS8 (K162Q)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GLikely benign
Select item 743513	NM_017864.4(INTS8):c.498C>T (p.Pro166=)	INTS8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2404663	NM_017864.4(INTS8):c.499G>A (p.Gly167Arg)	INTS8 (G167R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314147	NM_017864.4(INTS8):c.559A>G (p.Ile187Val)	INTS8 (I187V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110241	NM_017864.4(INTS8):c.716C>T (p.Ala239Val)	INTS8 (A239V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110242	NM_017864.4(INTS8):c.721T>A (p.Leu241Met)	INTS8 (L241M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110243	NM_017864.4(INTS8):c.731A>C (p.Lys244Thr)	INTS8 (K244T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2637760	NM_017864.4(INTS8):c.736G>A (p.Glu246Lys)	INTS8 (E246K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1285099	NM_017864.4(INTS8):c.873A>G (p.Leu291=)	INTS8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 689526	NM_017864.4(INTS8):c.893A>G (p.Asp298Gly)	INTS8 (D298G)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with cerebellar hypoplasia and spasticity	GPathogenic
Select item 2278668	NM_017864.4(INTS8):c.901C>T (p.Arg301Trp)	INTS8 (R301W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535120	NM_017864.4(INTS8):c.944C>T (p.Ser315Phe)	INTS8 (S315F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1300112	NM_017864.4(INTS8):c.1018-11G>A	INTS8	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with cerebellar hypoplasia and spasticity +1 more	GBenign
Select item 2357659	NM_017864.4(INTS8):c.1021G>T (p.Val341Leu)	INTS8 (V341L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2442176	NM_017864.4(INTS8):c.1075C>T (p.Arg359Ter)	INTS8 (R359*)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental disorder with cerebellar hypoplasia and spasticity	GLikely pathogenic
Select item 2535904	NM_017864.4(INTS8):c.1231A>C (p.Asn411His)	INTS8 (N411H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 789298	NM_017864.4(INTS8):c.1310G>A (p.Gly437Glu)	INTS8 (G437E)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3110231	NM_017864.4(INTS8):c.1356T>A (p.Asp452Glu)	INTS8 (D452E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314060	NM_017864.4(INTS8):c.1385A>G (p.His462Arg)	INTS8 (H462R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286258	NM_017864.4(INTS8):c.1516A>G (p.Ser506Gly)	INTS8 (S506G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355264	NM_017864.4(INTS8):c.1537G>C (p.Glu513Gln)	INTS8 (E513Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110232	NM_017864.4(INTS8):c.1545A>T (p.Gln515His)	INTS8 (Q515H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265047	NM_017864.4(INTS8):c.1570A>G (p.Arg524Gly)	INTS8 (R524G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110233	NM_017864.4(INTS8):c.1571G>A (p.Arg524Lys)	INTS8 (R524K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555155	NM_017864.4(INTS8):c.1615C>T (p.Arg539Cys)	INTS8 (R539C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2658698	NM_017864.4(INTS8):c.1636A>T (p.Asn546Tyr)	INTS8 (N546Y)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3110234	NM_017864.4(INTS8):c.1661A>G (p.Tyr554Cys)	INTS8 (Y554C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1285137	NM_017864.4(INTS8):c.1665T>C (p.Ser555=)	INTS8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3286256	NM_017864.4(INTS8):c.1691A>G (p.Asn564Ser)	INTS8 (N564S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518087	NM_017864.4(INTS8):c.1720A>G (p.Met574Val)	INTS8 (M574V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 761413	NM_017864.4(INTS8):c.1752+7A>G	INTS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2402635	NM_017864.4(INTS8):c.1772A>T (p.Gln591Leu)	INTS8 (Q591L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370739	NM_017864.4(INTS8):c.1772A>G (p.Gln591Arg)	INTS8 (Q591R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110235	NM_017864.4(INTS8):c.1813C>G (p.Pro605Ala)	INTS8 (P605A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532060	NM_017864.4(INTS8):c.1961C>G (p.Pro654Arg)	INTS8 (P654R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525821	NM_017864.4(INTS8):c.1966C>T (p.Arg656Cys)	INTS8 (R656C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1285220	NM_017864.4(INTS8):c.2031A>G (p.Thr677=)	INTS8	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 3044381	NM_017864.4(INTS8):c.2077-8T>C	INTS8	Single nucleotide variant (intron variant)	INTS8-related disorder	GBenign
Select item 3286257	NM_017864.4(INTS8):c.2099C>T (p.Thr700Ile)	INTS8 (T700I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1300113	NM_017864.4(INTS8):c.2130T>C (p.Ser710=)	INTS8	Single nucleotide variant (synonymous variant +1 more)	Neurodevelopmental disorder with cerebellar hypoplasia and spasticity +1 more	GBenign
Select item 2212635	NM_017864.4(INTS8):c.2134C>T (p.Arg712Trp)	INTS8 (R712W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2637761	NM_017864.4(INTS8):c.2210G>A (p.Gly737Asp)	INTS8 (G737D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 782952	NM_017864.4(INTS8):c.2263A>C (p.Ser755Arg)	INTS8 (S755R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 2214549	NM_017864.4(INTS8):c.2317A>G (p.Ile773Val)	INTS8 (I773V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110236	NM_017864.4(INTS8):c.2351G>A (p.Arg784Gln)	INTS8 (R784Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110237	NM_017864.4(INTS8):c.2375C>T (p.Thr792Ile)	INTS8 (T792I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264973	NM_017864.4(INTS8):c.2381A>T (p.Glu794Val)	INTS8 (E794V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110238	NM_017864.4(INTS8):c.2386A>G (p.Ile796Val)	INTS8 (I796V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3050914	NM_017864.4(INTS8):c.2446A>G (p.Ile816Val)	INTS8 (I816V)	Single nucleotide variant (missense variant +1 more)	INTS8-related disorder	GLikely benign
Select item 3034286	NM_017864.4(INTS8):c.2482A>G (p.Ile828Val)	INTS8 (I828V)	Single nucleotide variant (missense variant +1 more)	INTS8-related disorder	GLikely benign
Select item 1300114	NM_017864.4(INTS8):c.2694C>T (p.Ala898=)	INTS8	Single nucleotide variant (synonymous variant +1 more)	Neurodevelopmental disorder with cerebellar hypoplasia and spasticity +1 more	GBenign
Select item 3110239	NM_017864.4(INTS8):c.2716G>A (p.Glu906Lys)	INTS8 (E906K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2628970	NM_017864.4(INTS8):c.2762+1G>A	INTS8	Single nucleotide variant (splice donor variant)	INTS8-related disorder	GUncertain significance
Select item 720658	NM_017864.4(INTS8):c.2766T>C (p.His922=)	INTS8	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3110240	NM_017864.4(INTS8):c.2786A>G (p.Tyr929Cys)	INTS8 (Y929C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3065215	NM_017864.4(INTS8):c.2863C>G (p.Gln955Glu)	INTS8 (Q955E)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with cerebellar hypoplasia and spasticity	GUncertain significance
Select item 689527	NM_017864.4(INTS8):c.2917_2925del (p.Glu973_Leu975del)	INTS8	Deletion (inframe_deletion +1 more)	Neurodevelopmental disorder with cerebellar hypoplasia and spasticity	GPathogenic
Select item 2364985	NM_057749.3(CCNE2):c.1204G>A (p.Gly402Arg)	CCNE2, INTS8 (G402R)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2685315	GRCh37/hg19 8q21.13-22.1(chr8:84127576-98263585)x1	ATP6V0D2, CA1 +53 more	Copy number loss	not provided	GPathogenic
Select item 2684548	GRCh37/hg19 8q22.1(chr8:94622851-96626603)x3	CCNE2, CDH17 +15 more	Copy number gain	not provided	GUncertain significance
Select item 2684546	GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3	ANKRD46, ATP6V0D2 +96 more	Copy number gain	not provided	GPathogenic
Select item 2506527	GRCh37/hg19 8q21.3-22.1(chr8:89179899-97978274)	LINC02906, LRRC69 +36 more	Copy number loss	not provided	GPathogenic
Select item 1808681	GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	AARD, ABRA +141 more	Copy number gain	not provided	GPathogenic
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 979843	GRCh37/hg19 8q22.1(chr8:95803280-97802022)x3	CFAP418, CCNE2 +11 more	Copy number gain	not provided	GLikely pathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 563556	GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3	DCAF13, CNGB3 +105 more	Copy number gain	not provided	GPathogenic
Select item 443924	GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3	AARD, ABRA +277 more	Copy number gain	See cases	GPathogenic

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