29150[HGNC] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 805

<< First< Prev

Page of 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59397	GRCh38/hg38 10p15.3(chr10:14062-622709)x1	DIP2C, LOC102723376 +14 more	Copy number loss	See cases	GUncertain significance
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	PROSER2-AS1, PRPF18 +680 more	Copy number loss	See cases	GPathogenic
Select item 154187	GRCh38/hg38 10p15.3-13(chr10:54086-13205916)x3	MIR5699, MIR6072 +496 more	Copy number gain	See cases	GPathogenic
Select item 154088	GRCh38/hg38 10p15.3(chr10:54086-1600803)x1	ADARB2, ADARB2-AS1 +54 more	Copy number loss	See cases	GPathogenic
Select item 58710	GRCh38/hg38 10p15.3-15.1(chr10:69260-6209368)x1	ADARB2, ADARB2-AS1 +276 more	Copy number loss	See cases	GPathogenic
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 150324	GRCh38/hg38 10p15.3(chr10:70478-1042794)x1	DIP2C, DIP2C-AS1 +32 more	Copy number loss	See cases	GLikely pathogenic
Select item 150117	GRCh38/hg38 10p15.3(chr10:70478-770688)x1	DIP2C, DIP2C-AS1 +16 more	Copy number loss	See cases	GLikely pathogenic
Select item 150048	GRCh38/hg38 10p15.3-13(chr10:70478-13736564)x1	LOC130003277, LOC130003278 +520 more	Copy number loss	See cases	GPathogenic
Select item 148516	GRCh38/hg38 10p15.3(chr10:70478-457520)x1	DIP2C, LOC124403897 +12 more	Copy number loss	See cases	GUncertain significance
Select item 148280	GRCh38/hg38 10p15.3(chr10:70478-312686)x1	DIP2C, LOC124403897 +8 more	Copy number loss	See cases	GLikely pathogenic
Select item 146014	GRCh38/hg38 10p15.3-13(chr10:73856-12815915)x3	LOC132090805, MANCR +482 more	Copy number gain	See cases	GPathogenic
Select item 58711	GRCh38/hg38 10p15.3(chr10:87458-2482736)x1	ADARB2, ADARB2-AS1 +66 more	Copy number loss	See cases	GPathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 146357	GRCh38/hg38 10p15.3(chr10:90421-306173)x3	DIP2C, LOC124403897 +4 more	Copy number gain	See cases	GUncertain significance
Select item 146280	GRCh38/hg38 10p15.3-15.2(chr10:90421-3058742)x1	ADARB2, ADARB2-AS1 +71 more	Copy number loss	See cases	GLikely pathogenic
Select item 146220	GRCh38/hg38 10p15.3-14(chr10:90421-11713049)x3	LOC130003153, LOC130003154 +421 more	Copy number gain	See cases	GPathogenic
Select item 57431	GRCh38/hg38 10p15.3-14(chr10:90421-6769994)x3	ADARB2, ADARB2-AS1 +298 more	Copy number gain	See cases	GPathogenic
Select item 57407	GRCh38/hg38 10p15.3-14(chr10:90421-8442783)x3	ADARB2, ADARB2-AS1 +352 more	Copy number gain	See cases	GPathogenic
Select item 153334	GRCh38/hg38 10p15.3(chr10:113358-557294)x1	DIP2C, LOC106783507 +10 more	Copy number loss	See cases	GUncertain significance
Select item 149306	GRCh38/hg38 10p15.3(chr10:167511-286467)x3	DIP2C, LOC126860802 +3 more	Copy number gain	See cases	GUncertain significance
Select item 57851	GRCh38/hg38 10p15.3(chr10:180143-550594)x3	DIP2C, LOC106783507 +9 more	Copy number gain	See cases	GUncertain significance
Select item 153860	GRCh38/hg38 10p15.3(chr10:200071-415409)x3	DIP2C, LOC126860802 +7 more	Copy number gain	See cases	GUncertain significance
Select item 144219	GRCh38/hg38 10p15.3(chr10:202524-405073)x3	DIP2C, LOC126860802 +7 more	Copy number gain	See cases	GBenign
Select item 155262	GRCh38/hg38 10p15.3(chr10:232912-578344)x4	DIP2C, LOC106783507 +9 more	Copy number gain	See cases	GUncertain significance
Select item 57852	GRCh38/hg38 10p15.3(chr10:248232-587589)x3	DIP2C, LOC106783507 +9 more	Copy number gain	See cases	GUncertain significance
Select item 2956581	NM_014974.3(DIP2C):c.4665C>T (p.Asn1555=)	DIP2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977202	NM_014974.3(DIP2C):c.4659C>G (p.Ala1553=)	DIP2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1598742	NM_014974.3(DIP2C):c.4653T>C (p.Tyr1551=)	DIP2C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1439963	NM_014974.3(DIP2C):c.4632A>G (p.Ala1544=)	DIP2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1940290	NM_014974.3(DIP2C):c.4620C>T (p.Asp1540=)	DIP2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 872161	NM_014974.3(DIP2C):c.4615C>T (p.Arg1539Ter)	DIP2C (R1539*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2003646	NM_014974.3(DIP2C):c.4593G>T (p.Gly1531=)	DIP2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3082459	NM_014974.3(DIP2C):c.4573A>G (p.Ile1525Val)	DIP2C (I1525V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3022797	NM_014974.3(DIP2C):c.4570G>A (p.Val1524Ile)	DIP2C (V1524I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1645706	NM_014974.3(DIP2C):c.4569C>T (p.Gly1523=)	DIP2C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2352281	NM_014974.3(DIP2C):c.4567G>A (p.Gly1523Ser)	DIP2C (G1523S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1590014	NM_014974.3(DIP2C):c.4566C>T (p.Ile1522=)	DIP2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010576	NM_014974.3(DIP2C):c.4565T>G (p.Ile1522Ser)	DIP2C (I1522S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1538988	NM_014974.3(DIP2C):c.4554C>T (p.Val1518=)	DIP2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2913316	NM_014974.3(DIP2C):c.4542C>T (p.Val1514=)	DIP2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2034609	NM_014974.3(DIP2C):c.4539C>A (p.Ile1513=)	DIP2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1663274	NM_014974.3(DIP2C):c.4539C>T (p.Ile1513=)	DIP2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2722123	NM_014974.3(DIP2C):c.4503G>A (p.Leu1501=)	DIP2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1597727	NM_014974.3(DIP2C):c.4494G>A (p.Leu1498=)	DIP2C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3272111	NM_014974.3(DIP2C):c.4480G>C (p.Glu1494Gln)	DIP2C (E1494Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1502627	NM_014974.3(DIP2C):c.4476A>C (p.Glu1492Asp)	DIP2C (E1492D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2714812	NM_014974.3(DIP2C):c.4473G>A (p.Ser1491=)	DIP2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1972218	NM_014974.3(DIP2C):c.4457T>C (p.Val1486Ala)	DIP2C (V1486A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 771172	NM_014974.3(DIP2C):c.4437A>C (p.Thr1479=)	DIP2C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1616376	NM_014974.3(DIP2C):c.4425G>C (p.Val1475=)	DIP2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898038	NM_014974.3(DIP2C):c.4419-4T>C	DIP2C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2903217	NM_014974.3(DIP2C):c.4418+8G>A	DIP2C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1656715	NM_014974.3(DIP2C):c.4418+7C>T	DIP2C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1411039	NM_014974.3(DIP2C):c.4408G>A (p.Val1470Ile)	DIP2C (V1470I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1984054	NM_014974.3(DIP2C):c.4407C>T (p.Ser1469=)	DIP2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2065179	NM_014974.3(DIP2C):c.4396G>A (p.Ala1466Thr)	DIP2C (A1466T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1585375	NM_014974.3(DIP2C):c.4386G>A (p.Ser1462=)	DIP2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 754452	NM_014974.3(DIP2C):c.4371C>T (p.Ile1457=)	DIP2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895028	NM_014974.3(DIP2C):c.4369A>G (p.Ile1457Val)	DIP2C (I1457V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3082457	NM_014974.3(DIP2C):c.4358G>A (p.Arg1453Gln)	DIP2C (R1453Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1967482	NM_014974.3(DIP2C):c.4350G>A (p.Arg1450=)	DIP2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888876	NM_014974.3(DIP2C):c.4339A>G (p.Met1447Val)	DIP2C (M1447V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1554414	NM_014974.3(DIP2C):c.4332C>T (p.Asp1444=)	DIP2C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1542347	NM_014974.3(DIP2C):c.4320A>G (p.Val1440=)	DIP2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2629927	NM_014974.3(DIP2C):c.4318G>A (p.Val1440Ile)	DIP2C (V1440I)	Single nucleotide variant (missense variant)	DIP2C-related disorder	GUncertain significance
Select item 2556594	NM_014974.3(DIP2C):c.4315G>A (p.Val1439Met)	DIP2C (V1439M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2955809	NM_014974.3(DIP2C):c.4314C>T (p.Tyr1438=)	DIP2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1321979	NM_014974.3(DIP2C):c.4314C>G (p.Tyr1438Ter)	DIP2C (Y1438*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GUncertain significance
Select item 2893191	NM_014974.3(DIP2C):c.4295A>G (p.Glu1432Gly)	DIP2C (E1432G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2618059	NM_014974.3(DIP2C):c.4295A>C (p.Glu1432Ala)	DIP2C (E1432A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1636354	NM_014974.3(DIP2C):c.4294+20G>T	DIP2C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1578144	NM_014974.3(DIP2C):c.4294+20del	DIP2C	Deletion (intron variant)	not provided	GBenign
Select item 2963328	NM_014974.3(DIP2C):c.4294+19G>A	DIP2C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1600373	NM_014974.3(DIP2C):c.4294+7G>T	DIP2C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2890239	NM_014974.3(DIP2C):c.4294+3G>A	DIP2C	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2186826	NM_014974.3(DIP2C):c.4281A>G (p.Thr1427=)	DIP2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2052189	NM_014974.3(DIP2C):c.4275G>T (p.Glu1425Asp)	DIP2C (E1425D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2485524	NM_014974.3(DIP2C):c.4264C>T (p.Arg1422Trp)	DIP2C (R1422W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1905162	NM_014974.3(DIP2C):c.4248C>A (p.Gly1416=)	DIP2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1516968	NM_014974.3(DIP2C):c.4247G>C (p.Gly1416Ala)	DIP2C (G1416A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993321	NM_014974.3(DIP2C):c.4245A>G (p.Thr1415=)	DIP2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1954219	NM_014974.3(DIP2C):c.4240C>T (p.Arg1414Cys)	DIP2C (R1414C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2091016	NM_014974.3(DIP2C):c.4209A>C (p.Leu1403=)	DIP2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2143545	NM_014974.3(DIP2C):c.4168G>A (p.Gly1390Arg)	DIP2C (G1390R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2046558	NM_014974.3(DIP2C):c.4167C>T (p.Tyr1389=)	DIP2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1673681	NM_014974.3(DIP2C):c.4162A>G (p.Ile1388Val)	DIP2C (I1388V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2186801	NM_014974.3(DIP2C):c.4149C>T (p.Ser1383=)	DIP2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3272108	NM_014974.3(DIP2C):c.4133G>A (p.Ser1378Asn)	DIP2C (S1378N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3272099	NM_014974.3(DIP2C):c.4132A>T (p.Ser1378Cys)	DIP2C (S1378C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1534256	NM_014974.3(DIP2C):c.4120-6T>C	DIP2C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970010	NM_014974.3(DIP2C):c.4120-12_4120-9del	DIP2C	Deletion (intron variant)	not provided	GLikely benign
Select item 2719038	NM_014974.3(DIP2C):c.4120-9C>T	DIP2C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2755593	NM_014974.3(DIP2C):c.4120-11T>C	DIP2C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2705830	NM_014974.3(DIP2C):c.4120-14C>T	DIP2C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2828781	NM_014974.3(DIP2C):c.4120-18A>C	DIP2C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1660491	NM_014974.3(DIP2C):c.4119+15C>T	DIP2C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1594997	NM_014974.3(DIP2C):c.4119+14C>T	DIP2C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1898785	NM_014974.3(DIP2C):c.4119+11T>C	DIP2C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 776488	NM_014974.3(DIP2C):c.4119+6T>C	DIP2C	Single nucleotide variant (intron variant)	not provided	GBenign

<< First< Prev

Page of 9