14631[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MED27, MIGA2 +789 more	Copy number gain	See cases	GPathogenic
Select item 59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	ABL1, ABO +536 more	Copy number gain	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	LOC130003057, LOC130003058 +656 more	Copy number gain	See cases	GPathogenic
Select item 3238673	GRCh38/hg38 9q34.13-34.3(chr9:137552409-137879159)	LOC124375238, LOC124375239 +569 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238671	GRCh38/hg38 9q34.13-34.3(chr9:137552082-137728529)	GBGT1, GLT6D1 +552 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238668	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138052113)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238667	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138059181)	LOC130002921, LOC130002922 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238666	GRCh38/hg38 9q34.13-34.3(chr9:136926151-138059181)	LOC121366034, LOC121366035 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238664	GRCh38/hg38 9q34.13-34.3(chr9:137590213-137817525)	SARDH, SEC16A +568 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238663	GRCh38/hg38 9q34.13-34.3(chr9:137590213-138052188)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 154569	GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	LOC130003026, LOC130003027 +530 more	Copy number gain	See cases	GPathogenic
Select item 147626	GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3	ABCA2, ABO +510 more	Copy number gain	See cases	GPathogenic
Select item 148759	GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3	LOC129390118, LOC130002920 +439 more	Copy number gain	See cases	GPathogenic
Select item 365569	NM_014694.4(ADAMTSL2):c.-212dup	ADAMTSL2	Duplication (5 prime UTR variant +1 more)	Geleophysic dysplasia	GLikely benign
Select item 1334608	NM_014694.4(ADAMTSL2):c.-151+2T>C	ADAMTSL2	Single nucleotide variant (intron variant +1 more)	Lethal short-limb skeletal dysplasia, Al Gazali type +1 more	GUncertain significance
Select item 680522	NM_014694.4(ADAMTSL2):c.-150-260G>A	ADAMTSL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236377	NM_014694.4(ADAMTSL2):c.-150-241C>G	ADAMTSL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178978	NM_014694.4(ADAMTSL2):c.-150-241C>T	ADAMTSL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680461	NM_014694.4(ADAMTSL2):c.-150-79A>C	ADAMTSL2	Single nucleotide variant (intron variant)	Geleophysic dysplasia 1 +1 more	GBenign
Select item 914314	NM_014694.4(ADAMTSL2):c.-147C>G	ADAMTSL2	Single nucleotide variant (5 prime UTR variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 914315	NM_014694.4(ADAMTSL2):c.-90G>C	ADAMTSL2	Single nucleotide variant (5 prime UTR variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 365570	NM_014694.4(ADAMTSL2):c.11G>C (p.Arg4Thr)	ADAMTSL2 (R4T)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 365571	NM_014694.4(ADAMTSL2):c.58G>A (p.Val20Ile)	ADAMTSL2 (V20I)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 1 +1 more	GConflicting classifications of pathogenicity
Select item 3268345	NM_014694.4(ADAMTSL2):c.73G>T (p.Val25Leu)	ADAMTSL2 (V25L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 914316	NM_014694.4(ADAMTSL2):c.81C>T (p.Thr27=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 235675	NM_014694.4(ADAMTSL2):c.88A>G (p.Thr30Ala)	ADAMTSL2 (T30A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3350255	NM_014694.4(ADAMTSL2):c.89C>T (p.Thr30Met)	ADAMTSL2 (T30M)	Single nucleotide variant (missense variant)	ADAMTSL2-related disorder	GUncertain significance
Select item 1225896	NM_014694.4(ADAMTSL2):c.90+143G>T	ADAMTSL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680523	NM_014694.4(ADAMTSL2):c.91-182T>A	ADAMTSL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3054919	NM_014694.4(ADAMTSL2):c.91-5C>T	ADAMTSL2	Single nucleotide variant (intron variant)	ADAMTSL2-related disorder	GLikely benign
Select item 3054346	NM_014694.4(ADAMTSL2):c.101C>A (p.Pro34Gln)	ADAMTSL2 (P34Q)	Single nucleotide variant (missense variant)	ADAMTSL2-related disorder	GUncertain significance
Select item 3035152	NM_014694.4(ADAMTSL2):c.105A>G (p.Thr35=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	ADAMTSL2-related disorder	GLikely benign
Select item 3079111	NM_014694.4(ADAMTSL2):c.122G>C (p.Gly41Ala)	ADAMTSL2 (G41A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3253357	NM_014694.4(ADAMTSL2):c.162_170del (p.Lys55_Thr57del)	ADAMTSL2	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1710156	NM_014694.4(ADAMTSL2):c.157T>C (p.Trp53Arg)	ADAMTSL2 (W53R)	Single nucleotide variant (missense variant)	Lethal short-limb skeletal dysplasia, Al Gazali type	GUncertain significance
Select item 3352484	NM_014694.4(ADAMTSL2):c.198G>A (p.Gly66=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	ADAMTSL2-related disorder	GLikely benign
Select item 3354829	NM_014694.4(ADAMTSL2):c.199G>A (p.Val67Met)	ADAMTSL2 (V67M)	Single nucleotide variant (missense variant)	ADAMTSL2-related disorder	GUncertain significance
Select item 30944	NM_014694.4(ADAMTSL2):c.215G>A (p.Arg72Gln)	ADAMTSL2 (R72Q)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 1	GPathogenic
Select item 1710162	NM_014694.4(ADAMTSL2):c.229C>T (p.Gln77Ter)	ADAMTSL2 (Q77*)	Single nucleotide variant (nonsense)	Lethal short-limb skeletal dysplasia, Al Gazali type	GLikely pathogenic
Select item 3035743	NM_014694.4(ADAMTSL2):c.233+4C>T	ADAMTSL2	Single nucleotide variant (intron variant)	ADAMTSL2-related disorder	GLikely benign
Select item 427943	NM_014694.4(ADAMTSL2):c.234-2A>G	ADAMTSL2	Single nucleotide variant (splice acceptor variant)	Geleophysic dysplasia 1	GPathogenic
Select item 2281718	NM_014694.4(ADAMTSL2):c.242C>T (p.Ser81Phe)	ADAMTSL2 (S81F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268652	NM_014694.4(ADAMTSL2):c.248C>T (p.Pro83Leu)	ADAMTSL2 (P83L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3344616	NM_014694.4(ADAMTSL2):c.249G>A (p.Pro83=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	ADAMTSL2-related disorder	GLikely benign
Select item 365572	NM_014694.4(ADAMTSL2):c.255C>T (p.Pro85=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 914317	NM_014694.4(ADAMTSL2):c.258G>C (p.Gly86=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3079203	NM_014694.4(ADAMTSL2):c.272C>T (p.Thr91Met)	ADAMTSL2 (T91M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 365573	NM_014694.4(ADAMTSL2):c.279G>A (p.Thr93=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 976587	NM_014694.4(ADAMTSL2):c.286C>T (p.Arg96Trp)	ADAMTSL2 (R96W)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 1209918	NM_014694.4(ADAMTSL2):c.309+16G>T	ADAMTSL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680462	NM_014694.4(ADAMTSL2):c.309+208T>C	ADAMTSL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200431	NM_014694.4(ADAMTSL2):c.310-327G>A	ADAMTSL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211048	NM_014694.4(ADAMTSL2):c.310-231G>C	ADAMTSL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680463	NM_014694.4(ADAMTSL2):c.310-199T>C	ADAMTSL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196961	NM_014694.4(ADAMTSL2):c.310-170C>T	ADAMTSL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680464	NM_014694.4(ADAMTSL2):c.310-169A>G	ADAMTSL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 976588	NM_014694.4(ADAMTSL2):c.310-10C>T	ADAMTSL2	Single nucleotide variant (intron variant)	Geleophysic dysplasia 1	GLikely benign
Select item 365574	NM_014694.4(ADAMTSL2):c.310-9G>A	ADAMTSL2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 976603	NM_014694.4(ADAMTSL2):c.318G>A (p.Pro106=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 2404983	NM_014694.4(ADAMTSL2):c.320C>T (p.Pro107Leu)	ADAMTSL2 (P107L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3036812	NM_014694.4(ADAMTSL2):c.321G>A (p.Pro107=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	ADAMTSL2-related disorder	GLikely benign
Select item 365575	NM_014694.4(ADAMTSL2):c.325G>A (p.Gly109Arg)	ADAMTSL2 (G109R)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 1164089	NM_014694.4(ADAMTSL2):c.337C>T (p.Arg113Cys)	ADAMTSL2 (R113C)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 1 +1 more	GLikely pathogenic
Select item 1326072	NM_014694.4(ADAMTSL2):c.338G>T (p.Arg113Leu)	ADAMTSL2 (R113L)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 694	NM_014694.4(ADAMTSL2):c.338G>A (p.Arg113His)	ADAMTSL2 (R113H)	Single nucleotide variant (missense variant)	Lethal short-limb skeletal dysplasia, Al Gazali type	GLikely pathogenic
Select item 695	NM_014694.4(ADAMTSL2):c.340G>A (p.Glu114Lys)	ADAMTSL2 (E114K)	Single nucleotide variant (missense variant)	Geleophysic dysplasia +2 more	GConflicting classifications of pathogenicity
Select item 2382784	NM_014694.4(ADAMTSL2):c.352G>A (p.Val118Ile)	ADAMTSL2 (V118I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3234274	NM_014694.4(ADAMTSL2):c.378C>T (p.Asn126=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3079214	NM_014694.4(ADAMTSL2):c.382C>T (p.Arg128Trp)	ADAMTSL2 (R128W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079218	NM_014694.4(ADAMTSL2):c.383G>A (p.Arg128Gln)	ADAMTSL2 (R128Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 624374	NM_014694.4(ADAMTSL2):c.387G>A (p.Thr129=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	Geleophysic dysplasia 1 +1 more	GLikely benign
Select item 365576	NM_014694.4(ADAMTSL2):c.392A>G (p.Gln131Arg)	ADAMTSL2 (Q131R)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 912855	NM_014694.4(ADAMTSL2):c.412+10G>A	ADAMTSL2	Single nucleotide variant (intron variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 1275045	NM_014694.4(ADAMTSL2):c.412+47T>A	ADAMTSL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275277	NM_014694.4(ADAMTSL2):c.412+245C>G	ADAMTSL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214576	NM_014694.4(ADAMTSL2):c.413-316G>A	ADAMTSL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266435	NM_014694.4(ADAMTSL2):c.413-199G>A	ADAMTSL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1706880	NM_014694.4(ADAMTSL2):c.413-99A>G	ADAMTSL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3079222	NM_014694.4(ADAMTSL2):c.427A>G (p.Ile143Val)	ADAMTSL2 (I143V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 693	NM_014694.4(ADAMTSL2):c.440C>T (p.Pro147Leu)	ADAMTSL2 (P147L)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 1	GPathogenic
Select item 365577	NM_014694.4(ADAMTSL2):c.441G>A (p.Pro147=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 930268	NM_014694.4(ADAMTSL2):c.475C>T (p.Arg159Trp)	ADAMTSL2 (R159W)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 1224343	NM_014694.4(ADAMTSL2):c.476G>A (p.Arg159Gln)	ADAMTSL2 (R159Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3054926	NM_014694.4(ADAMTSL2):c.489C>T (p.Val163=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	ADAMTSL2-related disorder	GLikely benign
Select item 524194	NM_014694.4(ADAMTSL2):c.493G>A (p.Ala165Thr)	ADAMTSL2 (A165T)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 1224341	NM_014694.4(ADAMTSL2):c.494C>T (p.Ala165Val)	ADAMTSL2 (A165V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1710164	NM_014694.4(ADAMTSL2):c.496C>T (p.Arg166Cys)	ADAMTSL2 (R166C)	Single nucleotide variant (missense variant)	Lethal short-limb skeletal dysplasia, Al Gazali type	GLikely pathogenic
Select item 624558	NM_014694.4(ADAMTSL2):c.499G>A (p.Asp167Asn)	ADAMTSL2 (D167N)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 1 +1 more	GPathogenic

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