19419[HGNC] - ClinVar

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Items: 47

	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 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC126859762, LOC126859763 +460 more	Copy number loss	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 148944	GRCh38/hg38 6q21-22.1(chr6:107370141-115827482)x1	AFG1L, AK9 +224 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 149820	GRCh38/hg38 6q21-22.1(chr6:113997278-116053529)x1	FRK, HDAC2-AS2 +12 more	Copy number loss	See cases	GUncertain significance
Select item 3284813	NM_153612.4(HS3ST5):c.936T>G (p.Ile312Met)	HDAC2-AS2, HS3ST5 (I312M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107022	NM_153612.4(HS3ST5):c.896T>C (p.Ile299Thr)	HDAC2-AS2, HS3ST5 (I299T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107021	NM_153612.4(HS3ST5):c.863C>T (p.Ala288Val)	HDAC2-AS2, HS3ST5 (A288V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315295	NM_153612.4(HS3ST5):c.715G>A (p.Glu239Lys)	HDAC2-AS2, HS3ST5 (E239K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482276	NM_153612.4(HS3ST5):c.689G>C (p.Arg230Thr)	HDAC2-AS2, HS3ST5 (R230T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284816	NM_153612.4(HS3ST5):c.532T>A (p.Leu178Met)	HDAC2-AS2, HS3ST5 (L178M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216235	NM_153612.4(HS3ST5):c.355G>A (p.Ala119Thr)	HDAC2-AS2, HS3ST5 (A119T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107020	NM_153612.4(HS3ST5):c.263A>G (p.Gln88Arg)	HDAC2-AS2, HS3ST5 (Q88R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470462	NM_153612.4(HS3ST5):c.245G>A (p.Arg82His)	HDAC2-AS2, HS3ST5 (R82H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107018	NM_153612.4(HS3ST5):c.236A>G (p.Glu79Gly)	HDAC2-AS2, HS3ST5 (E79G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204930	NM_153612.4(HS3ST5):c.194G>A (p.Arg65His)	HDAC2-AS2, HS3ST5 (R65H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284814	NM_153612.4(HS3ST5):c.182T>C (p.Leu61Pro)	HDAC2-AS2, HS3ST5 (L61P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404440	NM_153612.4(HS3ST5):c.152G>A (p.Arg51His)	HDAC2-AS2, HS3ST5 (R51H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107017	NM_153612.4(HS3ST5):c.137G>A (p.Arg46Gln)	HDAC2-AS2, HS3ST5 (R46Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284815	NM_153612.4(HS3ST5):c.95G>T (p.Gly32Val)	HDAC2-AS2, HS3ST5 (G32V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537690	NM_153612.4(HS3ST5):c.85G>A (p.Ala29Thr)	HDAC2-AS2, HS3ST5 (A29T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107019	NM_153612.4(HS3ST5):c.25C>A (p.Leu9Met)	HDAC2-AS2, HS3ST5 (L9M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285196	NM_153612.4(HS3ST5):c.5T>C (p.Leu2Pro)	HDAC2-AS2, HS3ST5 (L2P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242312	GRCh37/hg19 6q21-22.31(chr6:109324789-124836619)x1	AK9, AMD1 +70 more	Copy number loss	not provided	GPathogenic
Select item 3062897	GRCh37/hg19 6q21-22.1(chr6:112880792-114834230)x1	HDAC2, HS3ST5 +1 more	Copy number loss	not specified	GUncertain significance
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 2574685	GRCh37/hg19 6q21-22.31(chr6:112713854-124105184)	ASF1A, CALHM4 +39 more	Copy number loss	6q terminal deletion syndrome	GLikely pathogenic
Select item 1527277	GRCh37/hg19 6q21-22.1(chr6:110472732-114762836)	AMD1, CCN6 +21 more	Copy number loss	not specified	GUncertain significance
Select item 1527266	GRCh37/hg19 6q15-22.2(chr6:92054891-118329651)	AFG1L, AK9 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	AFG1L, AK9 +138 more	Copy number loss	not specified	GPathogenic
Select item 981211	GRCh37/hg19 6q16.1-21(chr6:98949950-114533905)x1	PREP, QRSL1 +66 more	Copy number loss	Deletion 6q16 q21	GPathogenic
Select item 974790	GRCh37/hg19 6q16.3-22.1(chr6:101296547-117004249)x3	DSE, FAM229B +69 more	Copy number gain	Microcephaly +1 more	GPathogenic
Select item 814865	GRCh37/hg19 6q21(chr6:114331104-114593248)x1	HS3ST5	Copy number loss	not provided	GUncertain significance
Select item 688010	GRCh37/hg19 6q21-22.31(chr6:110981075-119608396)x1	AMD1, ASF1A +45 more	Copy number loss	not provided	GPathogenic
Select item 685494	GRCh37/hg19 6q21-22.1(chr6:113852057-115514875)x1	HDAC2, HS3ST5 +1 more	Copy number loss	not provided	GUncertain significance
Select item 563223	GRCh37/hg19 6q21-22.1(chr6:114296663-114982166)x3	HS3ST5	Copy number gain	not provided	GUncertain significance
Select item 563222	GRCh37/hg19 6q21-22.1(chr6:113261042-117842826)x1	CALHM4, CALHM5 +21 more	Copy number loss	not provided	GPathogenic
Select item 563204	GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1	AFG1L, AK9 +80 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 425540	GRCh37/hg19 6q21-22.1(chr6:114318401-116957002)x3	FRK, HS3ST5 +12 more	Copy number gain	not provided	GUncertain significance
Select item 217142	GRCh37/hg19 6q21-q22(chr6:112069445-120994664)x1	NT5DC1, TRAPPC3L +36 more	Copy number loss	6q21-6q22.1 deletion	GLikely pathogenic
Select item 180224	NC_000006.11:g.(112511751_112511752)_(118037595_118037596)del	KPNA5, LAMA4 +25 more	Deletion	Delayed speech and language development +2 more	GPathogenic

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Items: 47