55112[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ABCB8, ABCF2 +737 more	Copy number loss	See cases	GPathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	LOC129999721, LOC129999722 +707 more	Copy number loss	See cases	GPathogenic
Select item 60302	GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1	LOC129999681, LOC129999682 +573 more	Copy number loss	See cases	GPathogenic
Select item 148943	GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1	ABCB8, ABCF2 +540 more	Copy number loss	See cases	GPathogenic
Select item 148263	GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1	LOC129999684, LOC129999685 +538 more	Copy number loss	See cases	GLikely pathogenic
Select item 60312	GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1	LOC129999655, LOC129999656 +533 more	Copy number loss	See cases	GPathogenic
Select item 155436	GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1	UBE3C, VIPR2 +526 more	Copy number loss	See cases	GPathogenic
Select item 57408	GRCh38/hg38 7q35-36.3(chr7:147250465-159325876)x1	ABCB8, ABCF2 +526 more	Copy number loss	See cases	GPathogenic
Select item 154525	GRCh38/hg38 7q36.1-36.3(chr7:150260297-159325876)x1	ABCB8, ABCF2 +407 more	Copy number loss	See cases	GPathogenic
Select item 146852	GRCh38/hg38 7q36.1-36.3(chr7:150486071-159335865)x1	ABCB8, ABCF2 +375 more	Copy number loss	See cases	GPathogenic
Select item 148391	GRCh38/hg38 7q36.1-36.3(chr7:150802801-159335866)x1	ABCB8, ABCF2 +351 more	Copy number loss	See cases	GPathogenic
Select item 147505	GRCh38/hg38 7q36.1-36.3(chr7:151104277-159325876)x3	ABCF2, ABCF2-H2BK1 +315 more	Copy number gain	See cases	GPathogenic
Select item 146896	GRCh38/hg38 7q36.1-36.3(chr7:151378879-158923762)x1	LOC129389944, LOC129389945 +271 more	Copy number loss	See cases	GPathogenic
Select item 60314	GRCh38/hg38 7q36.1-36.3(chr7:152332476-159296617)x1	ACTR3B, BLACE +226 more	Copy number loss	See cases	GPathogenic
Select item 150933	GRCh38/hg38 7q36.1-36.3(chr7:152428852-159335865)x3	ACTR3B, BLACE +225 more	Copy number gain	See cases	GPathogenic
Select item 147806	GRCh38/hg38 7q36.2-36.3(chr7:152807205-159325876)x1	EN2-DT, ESYT2 +207 more	Copy number loss	See cases	GPathogenic
Select item 146922	GRCh38/hg38 7q36.2-36.3(chr7:152860576-159325876)x1	BLACE, CNPY1 +205 more	Copy number loss	See cases	GPathogenic
Select item 60315	GRCh38/hg38 7q36.2-36.3(chr7:152918472-159307523)x1	BLACE, CNPY1 +204 more	Copy number loss	See cases	GPathogenic
Select item 60316	GRCh38/hg38 7q36.2-36.3(chr7:152920128-159332714)x1	BLACE, CNPY1 +205 more	Copy number loss	See cases	GPathogenic
Select item 146559	GRCh38/hg38 7q36.2-36.3(chr7:153908499-159325876)x1	BLACE, CNPY1 +195 more	Copy number loss	See cases	GPathogenic
Select item 2579275	GRCh38/hg38 7q36.2-36.3(chr7:154446117-159206757)x1	BLACE, CNPY1 +193 more	Copy number loss	Holoprosencephaly 3	GPathogenic
Select item 147399	GRCh38/hg38 7q36.2-36.3(chr7:154939710-159325876)x1	BLACE, CNPY1 +186 more	Copy number loss	See cases	GPathogenic
Select item 57200	GRCh38/hg38 7q36.2-36.3(chr7:155007022-159135526)x1	BLACE, CNPY1 +173 more	Copy number loss	See cases	GPathogenic
Select item 154568	GRCh38/hg38 7q36.3(chr7:155262313-159117047)x1	BLACE, CNPY1 +161 more	Copy number loss	See cases	GPathogenic
Select item 149109	GRCh38/hg38 7q36.3(chr7:155379296-159335866)x3	CNPY1, DNAJB6 +156 more	Copy number gain	See cases	GLikely pathogenic
Select item 146358	GRCh38/hg38 7q36.3(chr7:155501171-159325876)x1	CNPY1, DNAJB6 +150 more	Copy number loss	See cases	GPathogenic
Select item 152725	GRCh38/hg38 7q36.3(chr7:155574967-159335866)x1	DNAJB6, DYNC2I1 +148 more	Copy number loss	See cases	GPathogenic
Select item 146785	GRCh38/hg38 7q36.3(chr7:157028893-159335865)x1	LINC01022, DNAJB6 +79 more	Copy number loss	See cases	GPathogenic
Select item 149686	GRCh38/hg38 7q36.3(chr7:157153628-159335866)x1	DNAJB6, DYNC2I1 +75 more	Copy number loss	See cases	GUncertain significance
Select item 58373	GRCh38/hg38 7q36.3(chr7:157271429-159282390)x3	DNAJB6, DYNC2I1 +73 more	Copy number gain	See cases	GUncertain significance
Select item 147687	GRCh38/hg38 7q36.3(chr7:157898696-159295947)x3	DYNC2I1, ESYT2 +46 more	Copy number gain	See cases	GPathogenic
Select item 57308	GRCh38/hg38 7q36.3(chr7:158154429-159135526)x1	LOC129999754, LOC129999755 +35 more	Copy number loss	See cases	GPathogenic
Select item 58375	GRCh38/hg38 7q36.3(chr7:158297823-159034606)x3	DYNC2I1, ESYT2 +32 more	Copy number gain	See cases	GUncertain significance
Select item 60327	GRCh38/hg38 7q36.3(chr7:158568512-159281301)x1	DYNC2I1, ESYT2 +32 more	Copy number loss	See cases	GPathogenic
Select item 545345	Single allele	DYNC2I1, ESYT2 +24 more	Duplication	Autism	GLikely pathogenic
Select item 144299	GRCh38/hg38 7q36.3(chr7:158671461-159127509)x3	DYNC2I1, ESYT2 +23 more	Copy number gain	See cases	GBenign
Select item 58376	GRCh38/hg38 7q36.3(chr7:158703702-159117047)x3	DYNC2I1, ESYT2 +23 more	Copy number gain	See cases	GUncertain significance
Select item 545346	Single allele	DYNC2I1, ESYT2 +21 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 155486	GRCh38/hg38 7q36.3(chr7:158795289-159327017)x3	DYNC2I1, ESYT2 +23 more	Copy number gain	See cases	GLikely benign
Select item 2500764	NC_000007.14:g.158815519_159037266dup	DYNC2I1, ESYT2 +15 more	Duplication	not specified	GUncertain significance
Select item 1251649	NM_001350914.2(DYNC2I1):c.-123-13541T>C	DYNC2I1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244018	NM_001350914.2(DYNC2I1):c.-123-13483T>G	DYNC2I1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250932	NM_018051.5(DYNC2I1):c.-167C>T	DYNC2I1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1179732	NM_018051.5(DYNC2I1):c.-147T>C	DYNC2I1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1179846	NM_018051.5(DYNC2I1):c.-130C>T	DYNC2I1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1179501	NM_018051.5(DYNC2I1):c.-123T>C	DYNC2I1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1271509	NM_018051.5(DYNC2I1):c.-93C>T	DYNC2I1, LOC129999765	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1263568	NM_018051.5(DYNC2I1):c.-54A>G	DYNC2I1, LOC129999765	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2591025	NM_018051.5(DYNC2I1):c.11G>T (p.Gly4Val)	DYNC2I1, LOC129999765 (G4V)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1680632	NM_018051.5(DYNC2I1):c.15+4G>A	DYNC2I1, LOC129999765	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 3006738	NM_018051.5(DYNC2I1):c.15+8C>T	DYNC2I1, LOC129999765	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2735667	NM_018051.5(DYNC2I1):c.15+12G>C	DYNC2I1, LOC129999765	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 1680633	NM_018051.5(DYNC2I1):c.15+12G>T	DYNC2I1, LOC129999765	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 1680634	NM_018051.5(DYNC2I1):c.15+17G>A	DYNC2I1, LOC129999765	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 144371	GRCh38/hg38 7q36.3(chr7:158858318-159135526)x3	DYNC2I1, LINC00689 +7 more	Copy number gain	See cases	GBenign
Select item 154271	GRCh38/hg38 7q36.3(chr7:158861610-159327017)x1	DYNC2I1, LINC00689 +12 more	Copy number loss	See cases	GLikely benign
Select item 1706664	NM_018051.5(DYNC2I1):c.16-115C>T	DYNC2I1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266963	NM_018051.5(DYNC2I1):c.16-34_16-28dup	DYNC2I1	Duplication (intron variant)	not provided	GBenign
Select item 1680635	NM_018051.5(DYNC2I1):c.16-13C>T	DYNC2I1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 1680636	NM_018051.5(DYNC2I1):c.16-6A>G	DYNC2I1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2103993	NM_018051.5(DYNC2I1):c.35C>T (p.Thr12Ile)	DYNC2I1 (T12I)	Single nucleotide variant (5 prime UTR variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 1680637	NM_018051.5(DYNC2I1):c.49G>A (p.Asp17Asn)	DYNC2I1 (D17N)	Single nucleotide variant (5 prime UTR variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 572127	NM_018051.5(DYNC2I1):c.69G>A (p.Trp23Ter)	DYNC2I1 (W23*)	Single nucleotide variant (5 prime UTR variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly +1 more	GUncertain significance
Select item 474632	NM_018051.5(DYNC2I1):c.69+7A>G	DYNC2I1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2079442	NM_018051.5(DYNC2I1):c.69+15G>A	DYNC2I1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 1252687	NM_018051.5(DYNC2I1):c.69+99T>C	DYNC2I1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2917017	NM_018051.5(DYNC2I1):c.70-20C>A	DYNC2I1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 3086532	NM_018051.5(DYNC2I1):c.79T>A (p.Ser27Thr)	DYNC2I1 (S27T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1680638	NM_018051.5(DYNC2I1):c.104A>G (p.Lys35Arg)	DYNC2I1 (K35R)	Single nucleotide variant (5 prime UTR variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 541525	NM_018051.5(DYNC2I1):c.105G>A (p.Lys35=)	DYNC2I1	Single nucleotide variant (5 prime UTR variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 664414	NM_018051.5(DYNC2I1):c.116A>G (p.Lys39Arg)	DYNC2I1 (K39R)	Single nucleotide variant (5 prime UTR variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 707551	NM_018051.5(DYNC2I1):c.134C>T (p.Ser45Phe)	DYNC2I1 (S45F)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 2091431	NM_018051.5(DYNC2I1):c.162G>C (p.Glu54Asp)	DYNC2I1 (E54D +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 3086511	NM_018051.5(DYNC2I1):c.164C>T (p.Pro55Leu)	DYNC2I1 (P9L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 971782	NM_018051.5(DYNC2I1):c.176A>G (p.Asp59Gly)	DYNC2I1 (D59G +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 2920111	NM_018051.5(DYNC2I1):c.180C>T (p.Pro60=)	DYNC2I1	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 1680639	NM_018051.5(DYNC2I1):c.180C>G (p.Pro60=)	DYNC2I1	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 724968	NM_018051.5(DYNC2I1):c.213C>T (p.Ala71=)	DYNC2I1	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 3274195	NM_018051.5(DYNC2I1):c.223A>C (p.Thr75Pro)	DYNC2I1 (T75P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2730063	NM_018051.5(DYNC2I1):c.225C>T (p.Thr75=)	DYNC2I1	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2486120	NM_018051.5(DYNC2I1):c.256A>G (p.Arg86Gly)	DYNC2I1 (R40G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3086516	NM_018051.5(DYNC2I1):c.269G>C (p.Arg90Thr)	DYNC2I1 (R90T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 735756	NM_018051.5(DYNC2I1):c.285C>T (p.Asp95=)	DYNC2I1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2508542	NM_018051.5(DYNC2I1):c.286G>A (p.Ala96Thr)	DYNC2I1 (A50T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2062886	NM_018051.5(DYNC2I1):c.295C>T (p.Arg99Trp)	DYNC2I1 (R99W +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 2131238	NM_018051.5(DYNC2I1):c.296G>C (p.Arg99Pro)	DYNC2I1 (R53P +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 2978617	NM_018051.5(DYNC2I1):c.300G>A (p.Glu100=)	DYNC2I1	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign

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