6607[geneid] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 800723	GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	LOC129993982, LOC129993983 +265 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 146335	GRCh38/hg38 5q12.1-13.2(chr5:63207112-71291191)x3	ADAMTS6, AK6 +139 more	Copy number gain	See cases	GLikely pathogenic
Select item 154729	GRCh38/hg38 5q12.3-13.2(chr5:65976124-71317474)x3	AK6, CCDC125 +101 more	Copy number gain	See cases	GUncertain significance
Select item 150774	GRCh38/hg38 5q13.2(chr5:69495443-71032915)x1	GTF2H2C, LOC111089946 +9 more	Copy number loss	See cases	GBenign
Select item 549599	NC_000005.9:g.68818173_70657747del1839575	GTF2H2, GTF2H2C +12 more	Deletion	Primary amenorrhea	GBenign
Select item 549600	NC_000005.10:g.69553767_71361920dup	GTF2H2, GTF2H2C +11 more	Duplication	Primary amenorrhea	GBenign
Select item 150655	GRCh38/hg38 5q13.2(chr5:69553776-71317498)x1	GTF2H2, GTF2H2C +10 more	Copy number loss	See cases	GBenign
Select item 150172	GRCh38/hg38 5q13.2(chr5:69568368-71317498)x1	GTF2H2, GTF2H2C +9 more	Copy number loss	See cases	GLikely benign
Select item 144560	GRCh38/hg38 5q13.2(chr5:69640103-71317302)x1	GTF2H2, LOC111089946 +8 more	Copy number loss	See cases	GBenign
Select item 154352	GRCh38/hg38 5q13.2(chr5:69679482-71193646)x3	GTF2H2, LOC111089946 +8 more	Copy number gain	See cases	GBenign
Select item 154341	GRCh38/hg38 5q13.2(chr5:69679482-71317302)x1	GTF2H2, LOC111089946 +8 more	Copy number loss	See cases	GBenign
Select item 149399	GRCh38/hg38 5q13.2(chr5:69924865-70167401)x1	SERF1B, SMN2	Copy number loss	See cases	GBenign
Select item 144512	GRCh38/hg38 5q13.2(chr5:69942850-71032915)x1	LOC111089946, LOC113002590 +6 more	Copy number loss	See cases	GBenign
Select item 144511	GRCh38/hg38 5q13.2(chr5:69942850-71032915)x3	LOC111089946, LOC113002590 +6 more	Copy number gain	See cases	GBenign
Select item 144425	GRCh38/hg38 5q13.2(chr5:69942850-70951975)x1	LOC113002590, SERF1A +4 more	Copy number loss	See cases	GBenign
Select item 144424	GRCh38/hg38 5q13.2(chr5:69942850-70951975)x3	LOC113002590, SERF1A +4 more	Copy number gain	See cases	GBenign
Select item 144258	GRCh38/hg38 5q13.2(chr5:69942850-71090773)x1	GTF2H2, LOC111089946 +8 more	Copy number loss	See cases	GBenign
Select item 144257	GRCh38/hg38 5q13.2(chr5:69942850-71090773)x3	GTF2H2, LOC111089946 +8 more	Copy number gain	See cases	GBenign
Select item 144186	GRCh38/hg38 5q13.2(chr5:69942850-71291191)x3	GTF2H2, LOC111089946 +8 more	Copy number gain	See cases	GBenign
Select item 57346	GRCh38/hg38 5q13.2(chr5:69942850-71014028)x1	LOC113002590, NAIP +5 more	Copy number loss	See cases	GBenign
Select item 32259	GRCh38/hg38 5q13.2(chr5:69942850-71291191)x1	GTF2H2, LOC111089946 +8 more	Copy number loss	See cases	GBenign
Select item 154418	GRCh38/hg38 5q13.2(chr5:69942862-71090767)x3	GTF2H2, LOC111089946 +8 more	Copy number gain	See cases	GBenign
Select item 154407	GRCh38/hg38 5q13.2(chr5:69942862-71291192)x3	GTF2H2, LOC111089946 +8 more	Copy number gain	See cases	GBenign
Select item 154370	GRCh38/hg38 5q13.2(chr5:69942862-71032915)x1	LOC111089946, LOC113002590 +6 more	Copy number loss	See cases	GBenign
Select item 151039	GRCh38/hg38 5q13.2(chr5:69942862-70629488)x3	LOC113002590, SERF1B +1 more	Copy number gain	See cases	GBenign
Select item 149855	GRCh38/hg38 5q13.2(chr5:69942862-70187999)x1	SERF1B, SMN2	Copy number loss	See cases	GBenign
Select item 145451	GRCh38/hg38 5q13.2(chr5:69942862-70952001)x1	LOC113002590, SERF1A +4 more	Copy number loss	See cases	GBenign
Select item 145397	GRCh38/hg38 5q13.2(chr5:69942862-71090767)x1	GTF2H2, LOC111089946 +8 more	Copy number loss	See cases	GBenign
Select item 145327	GRCh38/hg38 5q13.2(chr5:69942862-71291192)x1	GTF2H2, LOC111089946 +8 more	Copy number loss	See cases	GBenign/Likely benign
Select item 144696	GRCh38/hg38 5q13.2(chr5:69942862-71032915)x3	LOC111089946, LOC113002590 +6 more	Copy number gain	See cases	GBenign
Select item 1260889	NC_000005.10:g.70049464dup	SMN2	Duplication	not provided	GBenign
Select item 982121	NM_017411.4(SMN2):c.462A>G (p.Gln154=)	SMN2	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 1027370	NM_017411.4(SMN2):c.835-1897C>T	SMN2	Single nucleotide variant (intron variant)	Werdnig-Hoffmann disease	GUncertain significance
Select item 1027371	NM_017411.4(SMN2):c.835-44A>G	SMN2	Single nucleotide variant (intron variant)	Werdnig-Hoffmann disease	GUncertain significance
Select item 2337011	NM_017411.4(SMN2):c.835G>A (p.Gly279Ser)	SMN2 (G279S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 7962	NM_017411.4(SMN2):c.859G>C (p.Gly287Arg)	SMN2 (G287R +1 more)	Single nucleotide variant (missense variant +1 more)	Spinal muscular atrophy +2 more	GConflicting classifications of pathogenicity
Select item 3362672	NM_017411.4(SMN2):c.869C>G (p.Ser290Ter)	SMN2 (S258* +1 more)	Single nucleotide variant (nonsense +1 more)	Kugelberg-Welander disease	GLikely benign
Select item 150010	GRCh38/hg38 5q13.2(chr5:70076623-71090767)x3	GTF2H2, LOC111089946 +7 more	Copy number gain	See cases	GBenign
Select item 146734	GRCh38/hg38 5q13.2(chr5:70076623-71291192)x1	GTF2H2, LOC111089946 +7 more	Copy number loss	See cases	GBenign
Select item 145406	GRCh38/hg38 5q13.2(chr5:70076623-71032915)x1	LOC111089946, LOC113002590 +5 more	Copy number loss	See cases	GBenign
Select item 154317	GRCh38/hg38 5q13.2(chr5:70076645-70951975)x1	LOC113002590, SERF1A +3 more	Copy number loss	See cases	GBenign
Select item 154316	GRCh38/hg38 5q13.2(chr5:70076645-70951975)x3	LOC113002590, SERF1A +3 more	Copy number gain	See cases	GBenign
Select item 153027	GRCh38/hg38 5q13.2(chr5:70076645-71291191)x3	GTF2H2, LOC111089946 +7 more	Copy number gain	See cases	GBenign
Select item 153007	GRCh38/hg38 5q13.2(chr5:70076645-71090773)x1	GTF2H2, LOC111089946 +7 more	Copy number loss	See cases	GBenign
Select item 144507	GRCh38/hg38 5q13.2(chr5:70076645-71291191)x3	GTF2H2, LOC111089946 +7 more	Copy number gain	See cases	GBenign
Select item 527330	NM_000344.4(SMN1):c.835-4dup	SMN1, SMN2	Duplication (intron variant)	Spinal muscular atrophy +1 more	GConflicting classifications of pathogenicity
Select item 3148880	GRCh37/hg19 5q12.3-13.2(chr5:64364710-72835471)x1	ADAMTS6, CDK7 +40 more	Copy number loss	See cases	GPathogenic
Select item 2426318	NC_000005.9:g.(?_69372338)_(69372408_?)del	SMN2	Deletion	not provided	GLikely benign
Select item 1527167	GRCh37/hg19 5q12.3-13.2(chr5:64049692-70306646)	ADAMTS6, CCDC125 +28 more	Copy number loss	not specified	GPathogenic
Select item 979682	GRCh37/hg19 5q13.2(chr5:68831650-70663428)x1	GTF2H2, GTF2H2C +6 more	Copy number loss	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 617596	GRCh37/hg19 5q13.1-13.2(chr5:68278453-70369959)x3	CCDC125, CCNB1 +15 more	Copy number gain	not provided	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 393584	GRCh37/hg19 5q13.2(chr5:68728731-68849653)x3	GTF2H2C, MARVELD2 +7 more	Copy number gain	not specified	GLikely benign

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Items: 57