8402[geneid] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	LOC130060143, LOC130060144 +963 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	MIR22HG, MIR3183 +464 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR6883, MIR744 +923 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	ABR, ABR-AS1 +652 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	LOC130059866, LOC130059867 +499 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC130060025, LOC130060026 +458 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	YWHAE, ZBTB4 +605 more	Copy number gain	See cases	GPathogenic
Select item 144239	GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1	UBE2G1, USP6 +304 more	Copy number loss	See cases	GPathogenic
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	LOC130060037, LOC130060038 +291 more	Copy number loss	See cases	GPathogenic
Select item 146235	GRCh38/hg38 17p13.2(chr17:4044302-5943772)x1	LOC130060059, LOC130060060 +167 more	Copy number loss	See cases	GLikely pathogenic
Select item 150854	GRCh38/hg38 17p13.2(chr17:4092608-5354473)x3	ALOX15, ANKFY1 +142 more	Copy number gain	See cases	GLikely benign
Select item 1679759	Single allele	C17orf107, C17orf114 +68 more	Duplication	7p22.1 microduplication syndrome	GUncertain significance
Select item 642050	NC_000017.10:g.(?_4802011)_(4850135_?)dup	LOC130060045, LOC130060046 +17 more	Duplication	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 153248	GRCh38/hg38 17p13.2(chr17:4915519-5197126)x1	CAMTA2, CAMTA2-AS1 +48 more	Copy number loss	See cases	GLikely pathogenic
Select item 2753197	NM_003562.5(SLC25A11):c.849G>A (p.Thr283=)	SLC25A11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1319152	NM_003562.5(SLC25A11):c.828C>A (p.Phe276Leu)	SLC25A11 (F225L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2326792	NM_003562.5(SLC25A11):c.773A>C (p.Glu258Ala)	SLC25A11 (E247A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2803479	NM_003562.5(SLC25A11):c.738-14G>A	SLC25A11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2697826	NM_003562.5(SLC25A11):c.738-20C>A	SLC25A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 635126	NM_003562.5(SLC25A11):c.715C>A (p.Pro239Thr)	SLC25A11 (P239T +2 more)	Single nucleotide variant (missense variant)	Paragangliomas 6	GPathogenic
Select item 635128	NM_003562.5(SLC25A11):c.708C>T (p.Ala236=)	SLC25A11	Single nucleotide variant (synonymous variant)	Paragangliomas 6	GPathogenic
Select item 2383154	NM_003562.5(SLC25A11):c.671G>A (p.Cys224Tyr)	SLC25A11 (C173Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2701228	NM_003562.5(SLC25A11):c.638-16G>A	SLC25A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3055304	NM_003562.5(SLC25A11):c.576C>T (p.Val192=)	SLC25A11	Single nucleotide variant (synonymous variant)	SLC25A11-related condition	GLikely benign
Select item 2234516	NM_003562.5(SLC25A11):c.571G>A (p.Ala191Thr)	SLC25A11 (A140T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2701414	NM_003562.5(SLC25A11):c.547-20C>T	SLC25A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3047798	NM_003562.5(SLC25A11):c.538C>T (p.Leu180=)	SLC25A11	Single nucleotide variant (synonymous variant)	SLC25A11-related condition	GLikely benign
Select item 2592135	NM_003562.5(SLC25A11):c.518G>A (p.Arg173Gln)	SLC25A11 (R173Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2521842	NM_003562.5(SLC25A11):c.473G>A (p.Arg158His)	SLC25A11 (R147H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328306	NM_003562.5(SLC25A11):c.472C>G (p.Arg158Gly)	SLC25A11 (R107G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 635127	NM_003562.5(SLC25A11):c.439A>G (p.Met147Val)	SLC25A11 (M147V +2 more)	Single nucleotide variant (missense variant)	Paragangliomas 6	GPathogenic
Select item 2476099	NM_003562.5(SLC25A11):c.436C>T (p.Arg146Cys)	SLC25A11 (R95C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3041511	NM_003562.5(SLC25A11):c.432T>A (p.Leu144=)	SLC25A11	Single nucleotide variant (synonymous variant)	SLC25A11-related condition	GLikely benign
Select item 2492177	NM_003562.5(SLC25A11):c.422A>G (p.Glu141Gly)	SLC25A11 (E130G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 635129	NM_003562.5(SLC25A11):c.421G>A (p.Glu141Lys)	SLC25A11 (E141K +2 more)	Single nucleotide variant (missense variant)	Paragangliomas 6	GPathogenic
Select item 2253661	NM_003562.5(SLC25A11):c.277A>T (p.Thr93Ser)	SLC25A11 (T42S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1013124	NM_003562.5(SLC25A11):c.262C>T (p.Leu88=)	SLC25A11	Single nucleotide variant (synonymous variant)	SLC25A11-related condition +1 more	GBenign/Likely benign
Select item 2568604	NM_003562.5(SLC25A11):c.185A>G (p.Lys62Arg)	SLC25A11 (K51R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 635130	NM_003562.5(SLC25A11):c.107_108del (p.Thr36fs)	SLC25A11 (T36fs +1 more)	Deletion (frameshift variant +1 more)	Paragangliomas 6	GPathogenic
Select item 3049461	NM_003562.5(SLC25A11):c.57C>T (p.Ser19=)	SLC25A11	Single nucleotide variant (synonymous variant)	SLC25A11-related condition	GLikely benign
Select item 2329129	NM_003562.5(SLC25A11):c.29G>A (p.Gly10Asp)	SLC25A11 (G10D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2705639	NM_003562.5(SLC25A11):c.20C>T (p.Ala7Val)	LOC130060045, SLC25A11 (A7V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	not specified	GPathogenic
Select item 1809320	GRCh37/hg19 17p13.2(chr17:4658216-5266343)x3	C17orf107, CAMTA2 +22 more	Copy number gain	not provided	GUncertain significance
Select item 1526561	GRCh37/hg19 17p13.2(chr17:4113551-5023913)	ALOX15, ANKFY1 +31 more	Copy number loss	not specified	GUncertain significance
Select item 833374	NC_000017.11:g.(?_4898726)_(4948404_?)del	C17orf107, CHRNE +4 more	Deletion	Congenital myasthenic syndrome 4A	GPathogenic
Select item 831955	NC_000017.11:g.(?_4898726)_(5024161_?)dup	KIF1C, PFN1 +9 more	Duplication	Spastic ataxia 2 +1 more	GUncertain significance
Select item 816504	GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1	CLUH, CRK +115 more	Copy number loss	See cases	GPathogenic
Select item 688934	GRCh37/hg19 17p13.2(chr17:3759126-6128911)x1	ALOX15, ANKFY1 +48 more	Copy number loss	not provided	GUncertain significance
Select item 625578	GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620)	RTN4RL1, SCARF1 +115 more	Copy number gain	Chromosome 17P13.3, telomeric, duplication syndrome	GPathogenic
Select item 564394	GRCh37/hg19 17p13.2(chr17:4633847-4926646)x3	INCA1, SLC25A11 +18 more	Copy number gain	not provided	GUncertain significance
Select item 564393	GRCh37/hg19 17p13.2(chr17:4475016-4884701)x3	ARRB2, MINK1 +20 more	Copy number gain	not provided	GUncertain significance
Select item 564392	GRCh37/hg19 17p13.2(chr17:4036861-5174346)x3	CXCL16, SLC52A1 +36 more	Copy number gain	not provided	GUncertain significance
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441788	GRCh37/hg19 17p13.2(chr17:4633847-4856516)x1	C17orf107, CHRNE +14 more	Copy number loss	See cases	GUncertain significance
Select item 395716	GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486)	AIPL1, ALOX15 +115 more	Copy number gain	See cases	GPathogenic
Select item 394743	GRCh37/hg19 17p13.2(chr17:4762588-4844009)x3	C17orf107, CHRNE +4 more	Copy number gain	See cases	GUncertain significance

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Items: 62