457[HGNC] - ClinVar

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Items: 43

	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 145430	GRCh38/hg38 6q16.3-21(chr6:102356502-111049879)x1	AFG1L, AK9 +208 more	Copy number loss	See cases	GPathogenic
Select item 154178	GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1	AFG1L, AK9 +297 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 153047	GRCh38/hg38 6q21(chr6:110020558-111200711)x3	AMD1, CDC40 +32 more	Copy number gain	See cases	GUncertain significance
Select item 975816	NM_015076.5(CDK19):c.95A>G (p.Tyr32Cys)	AMD1, CDK19 (Y32C)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 87	GConflicting classifications of pathogenicity
Select item 929848	NM_015076.5(CDK19):c.94T>C (p.Tyr32His)	AMD1, CDK19 (Y32H)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 87	GPathogenic
Select item 973853	NM_015076.5(CDK19):c.92C>A (p.Thr31Asn)	AMD1, CDK19 (T31N)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 87	GPathogenic/Likely pathogenic
Select item 973825	NM_015076.5(CDK19):c.83G>C (p.Gly28Ala)	AMD1, CDK19 (G28A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 975815	NM_015076.5(CDK19):c.82G>A (p.Gly28Arg)	CDK19, AMD1 (G28R)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 87	GPathogenic
Select item 973822	NM_015076.5(CDK19):c.82G>C (p.Gly28Arg)	AMD1, CDK19 (G28R)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 2247433	NM_015076.5(CDK19):c.46G>A (p.Val16Met)	AMD1, CDK19 (V16M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3347137	NM_015076.5(CDK19):c.25C>G (p.Leu9Val)	AMD1, CDK19 (L9V)	Single nucleotide variant (missense variant +1 more)	CDK19-related disorder	GUncertain significance
Select item 2355323	NM_001634.6(AMD1):c.175A>C (p.Lys59Gln)	AMD1 (K59Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2302980	NM_001634.6(AMD1):c.254C>A (p.Thr85Asn)	AMD1 (T16N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2524929	NM_001634.6(AMD1):c.289C>A (p.Leu97Ile)	AMD1 (L28I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3114936	NM_001634.6(AMD1):c.401T>C (p.Ile134Thr)	AMD1 (I134T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2361178	NM_001634.6(AMD1):c.713C>T (p.Thr238Ile)	AMD1 (T121I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292385	NM_001634.6(AMD1):c.805A>G (p.Arg269Gly)	AMD1 (R200G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285271	NM_001634.6(AMD1):c.920G>A (p.Arg307His)	AMD1 (R190H +4 more)	Single nucleotide variant (missense variant +1 more)	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 3062935	GRCh37/hg19 6q21(chr6:110683352-111350364)x3	AMD1, CDK19 +4 more	Copy number gain	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 1808287	GRCh37/hg19 6q21(chr6:111198703-111878472)x3	AMD1, GTF3C6 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1527277	GRCh37/hg19 6q21-22.1(chr6:110472732-114762836)	AMD1, CCN6 +21 more	Copy number loss	not specified	GUncertain significance
Select item 1527276	GRCh37/hg19 6q21(chr6:109564793-112223595)	AK9, AMD1 +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 1048615	GRCh37/hg19 6q21(chr6:109796301-113083437)x3	AK9, AMD1 +22 more	Copy number gain	See cases	GUncertain significance
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 816620	GRCh37/hg19 6q21(chr6:109564694-112232351)x1	GPR6, METTL24 +21 more	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 563218	GRCh37/hg19 6q21(chr6:110419878-111698827)x1	SLC22A16, REV3L +10 more	Copy number loss	not provided	GUncertain significance
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 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 442533	GRCh37/hg19 6q21(chr6:111078505-111207128)x3	AMD1, CDK19	Copy number gain	See cases	GUncertain significance
Select item 393733	GRCh37/hg19 6q21(chr6:111185776-111216743)x3	AMD1	Copy number gain	See cases	GBenign

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Items: 43