14065[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 more	Copy number gain	See cases	GPathogenic
Select item 58518	GRCh38/hg38 7p21.3-21.1(chr7:9975653-19356878)x1	AGMO, AGR2 +130 more	Copy number loss	See cases	GPathogenic
Select item 154641	GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1	LOC129998072, LOC129998073 +331 more	Copy number loss	See cases	GPathogenic
Select item 147793	GRCh38/hg38 7p21.2-21.1(chr7:13966197-18321354)x1	AGMO, AGR2 +59 more	Copy number loss	See cases	GPathogenic
Select item 58520	GRCh38/hg38 7p21.2-21.1(chr7:15133711-19642829)x1	AGMO, AGR2 +67 more	Copy number loss	See cases	GPathogenic
Select item 148859	GRCh38/hg38 7p21.2-15.3(chr7:15533812-24851432)x1	ABCB5, AGMO +248 more	Copy number loss	See cases	GPathogenic
Select item 148160	GRCh38/hg38 7p21.2-21.1(chr7:16121516-20607899)x1	AGR2, AGR3 +84 more	Copy number loss	See cases	GPathogenic
Select item 59679	GRCh38/hg38 7p21.2-15.2(chr7:16234212-26167278)x3	ABCB5, AGR2 +287 more	Copy number gain	See cases	GPathogenic
Select item 152081	GRCh38/hg38 7p21.1(chr7:17847049-18321295)x3	HDAC9, LOC111591502 +8 more	Copy number gain	See cases	GBenign
Select item 58533	GRCh38/hg38 7p21.1(chr7:17930595-18209019)x1	HDAC9, LOC111591502 +8 more	Copy number loss	See cases	GPathogenic
Select item 2580891	NC_000007.14:g.18437239_18867540dup	LOC129998020, HDAC9 +5 more	Duplication	Auriculocondylar syndrome 4	GPathogenic
Select item 2657331	NM_001321868.2(HDAC9):c.26-37401A>G	HDAC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2400233	NM_178425.4(HDAC9):c.15C>G (p.Ile5Met)	HDAC9 (I5M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 58535	GRCh38/hg38 7p21.1-15.3(chr7:18505390-21417733)x1	ABCB5, FERD3L +63 more	Copy number loss	See cases	GPathogenic
Select item 3283716	NM_178425.4(HDAC9):c.82A>G (p.Thr28Ala)	HDAC9 (T28A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393921	NM_178425.4(HDAC9):c.106G>A (p.Val36Met)	HDAC9 (V58M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363772	NM_178425.4(HDAC9):c.286A>G (p.Ile96Val)	HDAC9 (I65V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383716	NM_178425.4(HDAC9):c.315G>C (p.Lys105Asn)	HDAC9 (K124N +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304667	NM_178425.4(HDAC9):c.368G>C (p.Arg123Thr)	HDAC9 (R145T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482090	NM_178425.4(HDAC9):c.487A>G (p.Thr163Ala)	HDAC9 (T129A +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716079	NM_178425.4(HDAC9):c.494C>G (p.Thr165Ser)	HDAC9 (T187S +9 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3283713	NM_178425.4(HDAC9):c.524A>G (p.His175Arg)	HDAC9 (H141R +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770372	NM_178425.4(HDAC9):c.542+10G>A	HDAC9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2214389	NM_178425.4(HDAC9):c.712G>A (p.Ala238Thr)	HDAC9 (A236T +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104655	NM_178425.4(HDAC9):c.774G>C (p.Lys258Asn)	HDAC9 (K227N +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247576	NM_178425.4(HDAC9):c.829G>T (p.Gly277Cys)	HDAC9 (G200C +20 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375896	NM_178425.4(HDAC9):c.893C>T (p.Pro298Leu)	HDAC9 (P218L +20 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514246	NM_178425.4(HDAC9):c.910G>A (p.Glu304Lys)	HDAC9 (E224K +20 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 154468	GRCh38/hg38 7p21.1(chr7:18638299-18952323)x1	HDAC9, HDAC9-AS1 +3 more	Copy number loss	See cases	GUncertain significance
Select item 58863	GRCh38/hg38 7p21.1(chr7:18638299-18797297)x1	HDAC9	Copy number loss	See cases	GUncertain significance
Select item 2546581	NM_178425.4(HDAC9):c.955A>G (p.Met319Val)	HDAC9 (M319V +20 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104646	NM_178425.4(HDAC9):c.1015G>T (p.Ala339Ser)	HDAC9 (A290S +20 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513960	NM_178425.4(HDAC9):c.1073C>T (p.Thr358Met)	HDAC9 (T353M +20 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657332	NM_178425.4(HDAC9):c.1128G>A (p.Pro376=)	HDAC9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3104647	NM_178425.4(HDAC9):c.1144C>G (p.Pro382Ala)	HDAC9 (P335A +20 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402926	NM_178425.4(HDAC9):c.1170A>T (p.Pro390=)	HDAC9	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2356942	NM_178425.4(HDAC9):c.1300T>G (p.Ser434Ala)	HDAC9 (S357A +20 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104648	NM_178425.4(HDAC9):c.1334G>A (p.Arg445His)	HDAC9 (R398H +20 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283717	NM_178425.4(HDAC9):c.1405C>G (p.Gln469Glu)	HDAC9 (Q420E +20 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 149762	GRCh38/hg38 7p21.1(chr7:18660228-20666885)x3	LOC129998025, LOC129998026 +38 more	Copy number gain	See cases	GUncertain significance
Select item 3104649	NM_178425.4(HDAC9):c.1514T>C (p.Leu505Pro)	HDAC9 (L425P +21 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247185	NM_178425.4(HDAC9):c.1634T>G (p.Val545Gly)	HDAC9 (V468G +21 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390885	NM_178425.4(HDAC9):c.1673A>T (p.Asp558Val)	HDAC9 (D478V +21 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390886	NM_178425.4(HDAC9):c.1674T>A (p.Asp558Glu)	HDAC9 (D481E +21 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 786105	NM_178425.4(HDAC9):c.1748C>A (p.Thr583Lys)	HDAC9 (T558K +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3104650	NM_178425.4(HDAC9):c.1783C>G (p.Leu595Val)	HDAC9 (L592V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104651	NM_178425.4(HDAC9):c.1858G>C (p.Val620Leu)	HDAC9 (V620L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402927	NM_178425.4(HDAC9):c.1872A>G (p.Pro624=)	HDAC9	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2236265	NM_178425.4(HDAC9):c.1873G>T (p.Ala625Ser)	HDAC9 (A625S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552522	NM_178425.4(HDAC9):c.1874C>T (p.Ala625Val)	HDAC9 (A581V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104652	NM_178425.4(HDAC9):c.1877T>A (p.Met626Lys)	HDAC9 (M601K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727300	NM_178425.4(HDAC9):c.1910-4A>G	HDAC9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1703177	NM_178425.4(HDAC9):c.1910-2A>G	HDAC9	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2253928	NM_178425.4(HDAC9):c.2077A>G (p.Ile693Val)	HDAC9 (I668V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283714	NM_178425.4(HDAC9):c.2095G>C (p.Glu699Gln)	HDAC9 (E696Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480907	NM_178425.4(HDAC9):c.2120C>G (p.Thr707Ser)	HDAC9 (T663S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708478	NM_178425.4(HDAC9):c.2181G>A (p.Lys727=)	HDAC9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2496173	NM_178425.4(HDAC9):c.2246A>C (p.His749Pro)	HDAC9 (H746P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2497693	NM_178425.4(HDAC9):c.2252C>G (p.Ser751Cys)	HDAC9 (S707C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2244285	NM_178425.4(HDAC9):c.2257G>A (p.Ala753Thr)	HDAC9 (A753T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402928	NM_178425.4(HDAC9):c.2286C>T (p.Ile762=)	HDAC9	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 710590	NM_178425.4(HDAC9):c.2379-5C>T	HDAC9, LOC110121290	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2589689	NM_178425.4(HDAC9):c.2430C>A (p.Asp810Glu)	HDAC9, LOC110121290 (D766E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104653	NM_178425.4(HDAC9):c.2437A>C (p.Asn813His)	HDAC9, LOC110121290 (N769H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283715	NM_178425.4(HDAC9):c.2599C>G (p.Leu867Val)	HDAC9 (L864V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 58540	GRCh38/hg38 7p21.1(chr7:18931530-19221396)x1	FERD3L, HDAC9 +3 more	Copy number loss	See cases	GPathogenic
Select item 2348477	NM_178425.4(HDAC9):c.2819C>T (p.Thr940Met)	HDAC9 (T915M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317105	NM_178425.4(HDAC9):c.2855T>C (p.Val952Ala)	HDAC9 (V952A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789887	NM_178425.4(HDAC9):c.3011T>C (p.Ile1004Thr)	HDAC9 (I960T +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 402925	NM_178425.4(HDAC9):c.3022+17C>T	HDAC9	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign
Select item 1230667	NM_178425.4(HDAC9):c.3023-91A>C	HDAC9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 547970	NM_178425.4(HDAC9):c.3088T>G (p.Leu1030Val)	HDAC9 (L1027V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3104654	NM_178425.4(HDAC9):c.3166A>C (p.Ser1056Arg)	HDAC9 (S1031R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062983	GRCh37/hg19 7p21.1-14.3(chr7:17736012-30663423)x1	ABCB5, CBX3 +75 more	Copy number loss	not specified	GPathogenic
Select item 3062961	GRCh37/hg19 7p21.3-15.2(chr7:13107394-27514163)x1	ABCB5, AGMO +71 more	Copy number loss	not specified	GPathogenic
Select item 2685237	GRCh37/hg19 7p21.1-15.3(chr7:18603745-21437047)x1	ABCB5, FERD3L +7 more	Copy number loss	not provided	GPathogenic
Select item 2685236	GRCh37/hg19 7p21.1(chr7:18168602-18226800)x1	HDAC9	Copy number loss	not provided	GUncertain significance
Select item 2664509	GRCh37/hg19 7p21.1(chr7:17930686-19059254)x1	HDAC9, PRPS1L1 +1 more	Copy number loss	Syndromic craniosynostosis	GLikely pathogenic
Select item 1808624	GRCh37/hg19 7p21.1(chr7:18503934-19516395)x3	FERD3L, HDAC9 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1807625	GRCh37/hg19 7p21.1(chr7:18954983-19024233)x1	HDAC9	Copy number loss	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1708194	GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3	ACTB, ADAP1 +98 more	Copy number gain	See cases	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527340	GRCh37/hg19 7p21.1(chr7:18496294-18587655)	HDAC9	Copy number loss	not specified	GUncertain significance
Select item 1527336	GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167)	ABCB5, ADCYAP1R1 +117 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527335	GRCh37/hg19 7p21.3-15.3(chr7:9358316-20982082)	ABCB5, AGMO +29 more	Copy number loss	not specified	GPathogenic
Select item 981203	GRCh37/hg19 7p21.2-21.1(chr7:14470668-20385165)x1	AGMO, AGR2 +19 more	Copy number loss	Saethre-Chotzen syndrome	GPathogenic
Select item 980247	GRCh37/hg19 7p21.2-21.1(chr7:16279316-18429845)x1	SOSTDC1, AGR2 +10 more	Copy number loss	not provided	GUncertain significance
Select item 979766	GRCh37/hg19 7p21.1(chr7:17865965-18361645)x3	PRPS1L1, SNX13 +1 more	Copy number gain	not provided	GLikely benign
Select item 832026	NC_000007.14:g.(?_18290464)_(18935942_?)del	HDAC9	Deletion	not provided	GUncertain significance
Select item 814934	GRCh37/hg19 7p21.2-21.1(chr7:13886653-20267202)x1	MEOX2, PRPS1L1 +19 more	Copy number loss	not provided	GPathogenic
Select item 687515	GRCh37/hg19 7p21.1(chr7:17151747-18869529)x3	AHR, HDAC9 +2 more	Copy number gain	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic

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