NCOA7[gene] - ClinVar

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Items: 73

	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 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	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 148658	GRCh38/hg38 6q22.1-22.32(chr6:117607147-126699980)x3	LOC129997072, LOC129997073 +147 more	Copy number gain	See cases	GPathogenic
Select item 148091	GRCh38/hg38 6q22.31-22.32(chr6:121829616-126154472)x1	CLVS2, FABP7 +75 more	Copy number loss	See cases	GUncertain significance
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 2250316	NM_181782.5(NCOA7):c.4G>A (p.Asp2Asn)	NCOA7, NCOA7-AS1 (D2N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600520	NM_181782.5(NCOA7):c.32A>G (p.Lys11Arg)	NCOA7, NCOA7-AS1 (K11R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184319	NM_181782.5(NCOA7):c.194C>G (p.Thr65Ser)	NCOA7 (T65S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559591	NM_181782.5(NCOA7):c.293A>C (p.His98Pro)	NCOA7 (H98P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399973	NM_181782.5(NCOA7):c.313A>G (p.Met105Val)	NCOA7 (M105V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330735	NM_181782.5(NCOA7):c.332A>G (p.His111Arg)	NCOA7 (H7R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298885	NM_181782.5(NCOA7):c.533T>A (p.Val178Asp)	NCOA7 (V178D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284003	NM_181782.5(NCOA7):c.595G>T (p.Ala199Ser)	NCOA7 (A199S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184370	NM_181782.5(NCOA7):c.769C>G (p.Leu257Val)	NCOA7 (L153V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184374	NM_181782.5(NCOA7):c.875C>G (p.Ala292Gly)	NCOA7 (A188G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298887	NM_181782.5(NCOA7):c.898G>A (p.Asp300Asn)	NCOA7 (D300N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209395	NM_181782.5(NCOA7):c.987C>A (p.Asn329Lys)	NCOA7 (N214K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184263	NM_181782.5(NCOA7):c.1075C>T (p.Pro359Ser)	NCOA7 (P348S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184265	NM_181782.5(NCOA7):c.1132A>T (p.Arg378Trp)	NCOA7 (R367W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247813	NM_181782.5(NCOA7):c.1181C>T (p.Pro394Leu)	NCOA7 (P279L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480592	NM_181782.5(NCOA7):c.1190C>A (p.Thr397Asn)	NCOA7 (T397N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184274	NM_181782.5(NCOA7):c.1192T>C (p.Ser398Pro)	NCOA7 (S283P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329633	NM_181782.5(NCOA7):c.1234G>A (p.Glu412Lys)	NCOA7 (E401K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298884	NM_181782.5(NCOA7):c.1297A>G (p.Lys433Glu)	NCOA7 (K422E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184277	NM_181782.5(NCOA7):c.1340G>A (p.Arg447Gln)	NCOA7 (R447Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298881	NM_181782.5(NCOA7):c.1365C>A (p.Asn455Lys)	NCOA7 (N340K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298880	NM_181782.5(NCOA7):c.1441G>A (p.Ala481Thr)	NCOA7 (A481T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341386	NM_181782.5(NCOA7):c.1505C>T (p.Ser502Leu)	NCOA7 (S387L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656898	NM_181782.5(NCOA7):c.1506G>A (p.Ser502=)	NCOA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3298883	NM_181782.5(NCOA7):c.1537A>G (p.Ile513Val)	NCOA7 (I502V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407939	NM_181782.5(NCOA7):c.1541A>G (p.His514Arg)	NCOA7 (H503R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619671	NM_181782.5(NCOA7):c.1546G>A (p.Asp516Asn)	NCOA7 (D516N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495938	NM_181782.5(NCOA7):c.1613A>C (p.Glu538Ala)	NCOA7 (E527A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611880	NM_181782.5(NCOA7):c.1625A>T (p.Lys542Ile)	NCOA7 (K427I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184292	NM_181782.5(NCOA7):c.1633T>A (p.Leu545Ile)	NCOA7 (L430I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184293	NM_181782.5(NCOA7):c.1646A>G (p.Lys549Arg)	NCOA7 (K549R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533162	NM_181782.5(NCOA7):c.1700C>G (p.Ala567Gly)	NCOA7 (A452G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371024	NM_181782.5(NCOA7):c.1700C>T (p.Ala567Val)	NCOA7 (A567V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348564	NM_181782.5(NCOA7):c.1736A>G (p.Asp579Gly)	NCOA7 (D464G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612968	NM_181782.5(NCOA7):c.1740G>C (p.Lys580Asn)	NCOA7 (K580N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590384	NM_181782.5(NCOA7):c.1769C>T (p.Pro590Leu)	NCOA7 (P590L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184312	NM_181782.5(NCOA7):c.1787C>T (p.Ser596Phe)	NCOA7 (S596F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209223	NM_181782.5(NCOA7):c.1845C>G (p.Asp615Glu)	NCOA7 (D500E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357238	NM_181782.5(NCOA7):c.2047G>A (p.Gly683Ser)	NCOA7 (G683S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371635	NM_181782.5(NCOA7):c.2089C>T (p.Arg697Trp)	NCOA7 (R582W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323888	NM_181782.5(NCOA7):c.2092G>C (p.Glu698Gln)	NCOA7 (E583Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184333	NM_181782.5(NCOA7):c.2137G>A (p.Asp713Asn)	NCOA7 (D713N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601785	NM_181782.5(NCOA7):c.2254G>A (p.Val752Ile)	NCOA7 (V637I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298886	NM_181782.5(NCOA7):c.2288G>C (p.Ser763Thr)	NCOA7 (S648T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184340	NM_181782.5(NCOA7):c.2308G>A (p.Glu770Lys)	NCOA7 (E655K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464510	NM_181782.5(NCOA7):c.2323G>A (p.Val775Ile)	NCOA7 (V52I +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3298879	NM_181782.5(NCOA7):c.2342C>T (p.Ala781Val)	NCOA7 (A781V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513643	NM_181782.5(NCOA7):c.2375C>G (p.Ala792Gly)	NCOA7 (A677G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515038	NM_181782.5(NCOA7):c.2393G>C (p.Arg798Thr)	NCOA7 (R75T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356206	NM_181782.5(NCOA7):c.2464C>T (p.Arg822Trp)	NCOA7 (R99W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401826	NM_181782.5(NCOA7):c.2702T>C (p.Phe901Ser)	NCOA7 (F786S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257861	NM_181782.5(NCOA7):c.2767G>A (p.Asp923Asn)	NCOA7 (D808N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184351	NM_181782.5(NCOA7):c.2812G>T (p.Val938Leu)	NCOA7 (V215L +3 more)	Single nucleotide variant (missense variant)	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 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 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 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

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Items: 73