2727[HGNC] - ClinVar

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Items: 62

	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 152877	GRCh38/hg38 6q21(chr6:107445281-110547907)x1	AFG1L, AK9 +104 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 2269195	NM_001372108.2(DDO):c.1000A>G (p.Thr334Ala)	DDO (T221A +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2472476	NM_001372108.2(DDO):c.928G>T (p.Gly310Cys)	DDO (G197C +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3080804	NM_001372108.2(DDO):c.914G>C (p.Gly305Ala)	DDO (G192A +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3080803	NM_001372108.2(DDO):c.883G>A (p.Gly295Arg)	DDO (G177R +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 752190	NM_001372108.2(DDO):c.849C>T (p.Gly283=)	DDO	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3080801	NM_001372108.2(DDO):c.689A>G (p.His230Arg)	DDO (H117R +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3080800	NM_001372108.2(DDO):c.668A>G (p.Tyr223Cys)	DDO (Y110C +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3271213	NM_001372108.2(DDO):c.622G>C (p.Ala208Pro)	DDO (A90P +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2266442	NM_001372108.2(DDO):c.593C>T (p.Pro198Leu)	DDO (P144L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406225	NM_001372108.2(DDO):c.575G>A (p.Gly192Glu)	DDO (G133E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080798	NM_001372108.2(DDO):c.567G>C (p.Gln189His)	DDO (Q130H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080797	NM_001372108.2(DDO):c.535G>A (p.Val179Met)	DDO (V61M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080796	NM_001372108.2(DDO):c.488C>T (p.Thr163Ile)	DDO (T50I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271216	NM_001372108.2(DDO):c.434C>T (p.Ala145Val)	DDO (A145V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271214	NM_001372108.2(DDO):c.403G>A (p.Ala135Thr)	DDO (A81T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623911	NM_001372108.2(DDO):c.392T>G (p.Val131Gly)	DDO (V13G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271212	NM_001372108.2(DDO):c.367G>A (p.Glu123Lys)	DDO (E5K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080795	NM_001372108.2(DDO):c.356T>C (p.Met119Thr)	DDO (M119T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2218677	NM_001372108.2(DDO):c.356T>G (p.Met119Arg)	DDO (M119R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3271211	NM_001372108.2(DDO):c.305C>T (p.Pro102Leu)	DDO (P48L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3080794	NM_001372108.2(DDO):c.268C>T (p.His90Tyr)	DDO (H36Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2604905	NM_001372108.2(DDO):c.257A>T (p.Asp86Val)	DDO (D86V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3080793	NM_001372108.2(DDO):c.223C>T (p.Leu75Phe)	DDO (L75F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3080792	NM_001372108.2(DDO):c.221A>G (p.His74Arg)	DDO (H20R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2545883	NM_001372108.2(DDO):c.218A>G (p.Asn73Ser)	DDO (N19S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2213018	NM_001372108.2(DDO):c.136G>A (p.Val46Met)	DDO (V46M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3080791	NM_001372108.2(DDO):c.83G>A (p.Arg28Gln)	DDO (R28Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 3271215	NM_001372108.2(DDO):c.62G>A (p.Cys21Tyr)	DDO (C21Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 780039	NM_001372108.2(DDO):c.28G>A (p.Gly10Arg)	DDO (G10R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2388725	NM_001372108.2(DDO):c.13C>T (p.Arg5Trp)	DDO (R5W)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3080802	NM_001372108.2(DDO):c.7A>G (p.Thr3Ala)	DDO (T3A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3080799	NM_001372108.2(DDO):c.-11G>A	DDO	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2490328	NM_001372108.2(DDO):c.-20G>C	DDO	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2594472	NM_001372108.2(DDO):c.-36G>C	DDO	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3080790	NM_001372108.2(DDO):c.-71G>A	DDO	Single nucleotide variant (5 prime UTR 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 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 980218	GRCh37/hg19 6q21(chr6:110288308-110768384)x3	DDO, GPR6 +4 more	Copy number gain	not provided	GUncertain significance
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 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

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Items: 62