19338[HGNC] - ClinVar

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Items: 79

	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 3141534	NM_015076.5(CDK19):c.1502G>A (p.Arg501Gln)	CDK19 (R441Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3235030	NM_015076.5(CDK19):c.1486T>A (p.Ser496Thr)	CDK19 (S436T +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 87	GUncertain significance
Select item 2072227	NM_015076.5(CDK19):c.1483C>A (p.Pro495Thr)	CDK19 (P435T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2493841	NM_015076.5(CDK19):c.1426C>G (p.Gln476Glu)	CDK19 (Q416E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361711	NM_015076.5(CDK19):c.1411G>A (p.Val471Ile)	CDK19 (V411I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3357327	NM_015076.5(CDK19):c.1326A>G (p.Leu442=)	CDK19	Single nucleotide variant (synonymous variant)	CDK19-related disorder	GLikely benign
Select item 2587914	NM_015076.5(CDK19):c.1306C>A (p.Pro436Thr)	CDK19 (P392T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2656845	NM_015076.5(CDK19):c.1257C>T (p.Thr419=)	CDK19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2407772	NM_015076.5(CDK19):c.1249G>A (p.Gly417Arg)	CDK19 (G417R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554235	NM_015076.5(CDK19):c.1247T>C (p.Val416Ala)	CDK19 (V356A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3237353	NM_015076.5(CDK19):c.1234G>T (p.Ala412Ser)	CDK19 (A352S +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 87	GUncertain significance
Select item 2537950	NM_015076.5(CDK19):c.1218C>G (p.Asn406Lys)	CDK19 (N362K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605364	NM_015076.5(CDK19):c.1190C>A (p.Pro397Gln)	CDK19 (P353Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 813559	NM_015076.5(CDK19):c.1184C>T (p.Ala395Val)	CDK19 (A351V +2 more)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 2507373	NM_015076.5(CDK19):c.1162_1182del (p.Gln388_Gln394del)	CDK19	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1803465	NM_015076.5(CDK19):c.1141C>G (p.Gln381Glu)	CDK19 (Q321E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3141533	NM_015076.5(CDK19):c.1116G>T (p.Gln372His)	CDK19 (Q328H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2656846	NM_015076.5(CDK19):c.1041C>T (p.Ala347=)	CDK19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3344189	NM_015076.5(CDK19):c.1021C>T (p.Pro341Ser)	CDK19 (P281S +2 more)	Single nucleotide variant (missense variant)	CDK19-related disorder	GUncertain significance
Select item 1690535	NM_015076.5(CDK19):c.952A>G (p.Met318Val)	CDK19 (M258V +2 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2602688	NM_015076.5(CDK19):c.941A>G (p.Lys314Arg)	CDK19 (K270R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1393897	NM_015076.5(CDK19):c.889A>G (p.Met297Val)	CDK19 (M237V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1064830	NM_015076.5(CDK19):c.764T>C (p.Ile255Thr)	CDK19 (I195T +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2136079	NM_015076.5(CDK19):c.722del (p.Ile241fs)	CDK19 (I241fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 973820	NM_015076.5(CDK19):c.598C>T (p.Arg200Trp)	CDK19 (R140W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 975818	NM_015076.5(CDK19):c.594G>C (p.Trp198Cys)	CDK19 (W138C +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 87	GUncertain significance
Select item 975817	NM_015076.5(CDK19):c.589T>C (p.Phe197Leu)	CDK19 (F137L +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 87	GLikely pathogenic
Select item 929847	NM_015076.5(CDK19):c.586A>G (p.Thr196Ala)	CDK19 (T196A +1 more)	Single nucleotide variant (missense variant +1 more)	CDK19-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1686554	NM_015076.5(CDK19):c.553_554insTT (p.Lys185fs)	CDK19 (K125fs +1 more)	Insertion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 3343294	NM_015076.5(CDK19):c.547C>T (p.Pro183Ser)	CDK19 (P123S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1690410	NM_015076.5(CDK19):c.532A>G (p.Arg178Gly)	CDK19 (R118G +1 more)	Single nucleotide variant (missense variant +1 more)	See cases	GUncertain significance
Select item 2656847	NM_015076.5(CDK19):c.498G>A (p.Arg166=)	CDK19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3141535	NM_015076.5(CDK19):c.497G>T (p.Arg166Met)	CDK19 (R166M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1696539	NM_015076.5(CDK19):c.457-3T>C	CDK19	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 87	GUncertain significance
Select item 1805083	NM_015076.5(CDK19):c.410A>T (p.Asp137Val)	CDK19 (D137V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 87	GLikely benign
Select item 3349669	NM_015076.5(CDK19):c.391T>C (p.Leu131=)	CDK19	Single nucleotide variant (synonymous variant)	CDK19-related disorder	GLikely benign
Select item 2505681	NM_015076.5(CDK19):c.386A>C (p.Lys129Thr)	CDK19 (K129T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3350791	NM_015076.5(CDK19):c.316-10dup	CDK19	Duplication (intron variant)	CDK19-related disorder	GLikely benign
Select item 2656848	NM_015076.5(CDK19):c.315+8T>C	CDK19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2286861	NM_015076.5(CDK19):c.248A>G (p.Lys83Arg)	CDK19 (K83R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2656849	NM_015076.5(CDK19):c.231T>C (p.Asn77=)	CDK19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2573674	NM_015076.5(CDK19):c.141G>C (p.Lys47Asn)	CDK19 (K47N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2627367	NM_015076.5(CDK19):c.129-19T>C	CDK19	Single nucleotide variant (intron variant)	not specified	GLikely benign
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)	AMD1, CDK19 (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 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 1705886	GRCh37/hg19 6q21(chr6:110720327-111091182)x3	SLC22A16, CDK19 +1 more	Copy number gain	Seizure	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 563219	GRCh37/hg19 6q21(chr6:111082360-111158585)x1	CDK19	Copy number loss	not provided	GUncertain significance
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

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Items: 79