KIAA0408[gene] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic
Select item 2579265	GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1	ARHGAP18, ASF1A +316 more	Copy number loss	Intellectual disability, autosomal dominant 55, with seizures	GPathogenic
Select item 58442	GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1	LOC129389639, LOC129389640 +254 more	Copy number loss	See cases	GPathogenic
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 148855	GRCh38/hg38 6q22.31-22.33(chr6:125021773-127771834)x1	C6orf58, CENPW +61 more	Copy number loss	See cases	GUncertain significance
Select item 58445	GRCh38/hg38 6q22.32-22.33(chr6:126255554-129431726)x1	C6orf58, CENPW +34 more	Copy number loss	See cases	GPathogenic
Select item 154738	GRCh38/hg38 6q22.32-23.2(chr6:126494533-132497855)x1	AKAP7, ARG1 +127 more	Copy number loss	See cases	GLikely pathogenic
Select item 2493933	NM_014702.5(KIAA0408):c.2044A>G (p.Asn682Asp)	KIAA0408, SOGA3-KIAA0408 (N682D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2405611	NM_014702.5(KIAA0408):c.2036C>T (p.Thr679Ile)	KIAA0408, SOGA3-KIAA0408 (T679I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3288082	NM_014702.5(KIAA0408):c.2030G>A (p.Arg677Gln)	KIAA0408, SOGA3-KIAA0408 (R677Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2595057	NM_014702.5(KIAA0408):c.1978C>T (p.Arg660Cys)	KIAA0408, SOGA3-KIAA0408 (R660C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2400811	NM_014702.5(KIAA0408):c.1955G>A (p.Arg652Gln)	KIAA0408, SOGA3-KIAA0408 (R652Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2354225	NM_014702.5(KIAA0408):c.1937A>G (p.His646Arg)	KIAA0408, SOGA3-KIAA0408 (H646R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2207848	NM_014702.5(KIAA0408):c.1930G>A (p.Ala644Thr)	KIAA0408, SOGA3-KIAA0408 (A644T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2228344	NM_014702.5(KIAA0408):c.1895C>T (p.Pro632Leu)	KIAA0408, SOGA3-KIAA0408 (P632L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2622844	NM_014702.5(KIAA0408):c.1885G>C (p.Gly629Arg)	KIAA0408, SOGA3-KIAA0408 (G629R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3288086	NM_014702.5(KIAA0408):c.1864G>A (p.Gly622Arg)	KIAA0408, SOGA3-KIAA0408 (G622R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2370542	NM_014702.5(KIAA0408):c.1805G>A (p.Ser602Asn)	KIAA0408, SOGA3-KIAA0408 (S602N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3288084	NM_014702.5(KIAA0408):c.1713G>C (p.Glu571Asp)	KIAA0408, SOGA3-KIAA0408 (E571D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2537733	NM_014702.5(KIAA0408):c.1688T>C (p.Val563Ala)	KIAA0408, SOGA3-KIAA0408 (V563A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3114084	NM_014702.5(KIAA0408):c.1594A>G (p.Ser532Gly)	KIAA0408, SOGA3-KIAA0408 (S532G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3288087	NM_014702.5(KIAA0408):c.1592G>T (p.Arg531Leu)	KIAA0408, SOGA3-KIAA0408 (R531L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2209725	NM_014702.5(KIAA0408):c.1499A>T (p.His500Leu)	KIAA0408, SOGA3-KIAA0408 (H500L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2258299	NM_014702.5(KIAA0408):c.1406C>T (p.Ser469Leu)	KIAA0408, SOGA3-KIAA0408 (S469L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2490238	NM_014702.5(KIAA0408):c.1311G>T (p.Lys437Asn)	KIAA0408, SOGA3-KIAA0408 (K437N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2411736	NM_014702.5(KIAA0408):c.1251G>C (p.Glu417Asp)	KIAA0408, SOGA3-KIAA0408 (E417D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2245620	NM_014702.5(KIAA0408):c.1244T>G (p.Val415Gly)	KIAA0408, SOGA3-KIAA0408 (V415G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3114083	NM_014702.5(KIAA0408):c.1078A>T (p.Met360Leu)	KIAA0408, SOGA3-KIAA0408 (M360L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3114082	NM_014702.5(KIAA0408):c.1052C>G (p.Pro351Arg)	KIAA0408, SOGA3-KIAA0408 (P351R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2515862	NM_014702.5(KIAA0408):c.991T>C (p.Ser331Pro)	KIAA0408, SOGA3-KIAA0408 (S331P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3114089	NM_014702.5(KIAA0408):c.982G>A (p.Gly328Arg)	KIAA0408, SOGA3-KIAA0408 (G328R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2510491	NM_014702.5(KIAA0408):c.979G>A (p.Glu327Lys)	KIAA0408, SOGA3-KIAA0408 (E327K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2552942	NM_014702.5(KIAA0408):c.959T>G (p.Met320Arg)	KIAA0408, SOGA3-KIAA0408 (M320R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3288078	NM_014702.5(KIAA0408):c.908G>T (p.Gly303Val)	KIAA0408, SOGA3-KIAA0408 (G303V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2233161	NM_014702.5(KIAA0408):c.905A>G (p.Glu302Gly)	KIAA0408, SOGA3-KIAA0408 (E302G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2318562	NM_014702.5(KIAA0408):c.689A>G (p.Glu230Gly)	KIAA0408, SOGA3-KIAA0408 (E230G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2347826	NM_014702.5(KIAA0408):c.656A>G (p.Asp219Gly)	KIAA0408, SOGA3-KIAA0408 (D219G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2474196	NM_014702.5(KIAA0408):c.650A>G (p.Asn217Ser)	KIAA0408, SOGA3-KIAA0408 (N217S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3114088	NM_014702.5(KIAA0408):c.598C>T (p.Leu200Phe)	KIAA0408, SOGA3-KIAA0408 (L200F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3383298	NM_014702.5(KIAA0408):c.578+1_578+2del	KIAA0408, SOGA3-KIAA0408	Deletion (splice donor variant)	Neurodevelopmental disorder with hypotonia and gross motor and speech delay	GUncertain significance
Select item 3288085	NM_014702.5(KIAA0408):c.557G>A (p.Arg186Gln)	KIAA0408, SOGA3-KIAA0408 (R186Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3114087	NM_014702.5(KIAA0408):c.514G>C (p.Ala172Pro)	KIAA0408, SOGA3-KIAA0408 (A172P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3288081	NM_014702.5(KIAA0408):c.497C>T (p.Thr166Ile)	KIAA0408, SOGA3-KIAA0408 (T166I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3288083	NM_014702.5(KIAA0408):c.446A>G (p.Asp149Gly)	KIAA0408, SOGA3-KIAA0408 (D149G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3288080	NM_014702.5(KIAA0408):c.388G>T (p.Val130Leu)	KIAA0408, SOGA3-KIAA0408 (V130L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2656900	NM_014702.5(KIAA0408):c.306A>G (p.Arg102=)	KIAA0408, SOGA3-KIAA0408	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2400587	NM_014702.5(KIAA0408):c.269G>A (p.Ser90Asn)	KIAA0408, SOGA3-KIAA0408 (S90N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3114086	NM_014702.5(KIAA0408):c.256G>A (p.Asp86Asn)	KIAA0408, SOGA3-KIAA0408 (D86N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3114085	NM_014702.5(KIAA0408):c.247A>G (p.Asn83Asp)	KIAA0408, SOGA3-KIAA0408 (N83D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2656901	NM_014702.5(KIAA0408):c.233T>C (p.Ile78Thr)	KIAA0408, SOGA3-KIAA0408 (I78T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2281981	NM_014702.5(KIAA0408):c.227A>T (p.Lys76Ile)	KIAA0408, SOGA3-KIAA0408 (K76I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2254760	NM_014702.5(KIAA0408):c.194T>C (p.Ile65Thr)	KIAA0408, SOGA3-KIAA0408 (I65T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2603279	NM_014702.5(KIAA0408):c.182G>A (p.Ser61Asn)	KIAA0408, SOGA3-KIAA0408 (S61N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2374082	NM_014702.5(KIAA0408):c.142C>T (p.Arg48Trp)	KIAA0408, SOGA3-KIAA0408 (R48W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3062929	GRCh37/hg19 6q22.31-22.33(chr6:124515654-130227224)x1	ARHGAP18, C6orf58 +19 more	Copy number loss	not specified	GUncertain significance
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 3062896	GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3	AKAP7, AMD1 +87 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685213	GRCh37/hg19 6q22.31-23.3(chr6:120218852-137160850)x1	AHI1, AKAP7 +69 more	Copy number loss	not provided	GPathogenic
Select item 1808088	GRCh37/hg19 6q22.31-22.33(chr6:120059951-130033233)x1	ARHGAP18, C6orf58 +27 more	Copy number loss	not provided	GUncertain significance
Select item 1527286	GRCh37/hg19 6q22.32-22.33(chr6:126419160-128801386)	C6orf58, CENPW +7 more	Copy number loss	not specified	GUncertain significance
Select item 1527284	GRCh37/hg19 6q22.31-22.33(chr6:122839432-128801386)	C6orf58, CENPW +21 more	Copy number loss	not specified	GPathogenic
Select item 1340790	GRCh37/hg19 6q22.31-22.33(chr6:125037475-129494795)x1	C6orf58, CENPW +17 more	Copy number loss	not provided	GPathogenic
Select item 563233	GRCh37/hg19 6q22.32-22.33(chr6:126419160-128801386)x1	RSPO3, ECHDC1 +7 more	Copy number loss	not provided	GUncertain significance
Select item 523159	GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1	EPB41L2, FABP7 +73 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 493588	GRCh37/hg19 6q22.33(chr6:127451298-127807918)x1	RNF146, RSPO3 +3 more	Copy number loss	not provided	GUncertain significance
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442817	GRCh37/hg19 6q22.31-23.2(chr6:122612641-131564463)x1	AKAP7, ARHGAP18 +32 more	Copy number loss	See cases	GPathogenic
Select item 442326	GRCh37/hg19 6q22.33(chr6:127303904-128482021)x1	C6orf58, PTPRK +6 more	Copy number loss	See cases	GLikely benign

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Items: 70