ClinVar for Gene (Select 1843) - ClinVar

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Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685184	GRCh37/hg19 5q35.1-35.2(chr5:171836503-176517734)x1	ARL10, ATP6V0E1 +37 more	Copy number loss	not provided	GPathogenic
Select item 2517378	NM_004417.4(DUSP1):c.179T>C (p.Met60Thr)	DUSP1, LOC110121211 (M60T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516594	NM_004417.4(DUSP1):c.1087A>G (p.Thr363Ala)	DUSP1 (T363A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495230	NM_004417.4(DUSP1):c.275C>A (p.Ala92Asp)	DUSP1 (A92D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2425102	NC_000005.9:g.(?_172089144)_(172774583_?)del	ERGIC1, NEURL1B +8 more	Deletion	Atrial septal defect 7	GPathogenic
Select item 2423474	NC_000005.9:g.(?_171765373)_(172939426_?)dup	ATP6V0E1, BNIP1 +9 more	Duplication	not provided	GUncertain significance
Select item 2302304	NM_004417.4(DUSP1):c.953C>G (p.Ser318Trp)	DUSP1 (S318W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287717	NM_004417.4(DUSP1):c.175G>T (p.Ala59Ser)	DUSP1, LOC110121211 (A59S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242886	NM_004417.4(DUSP1):c.950G>T (p.Cys317Phe)	DUSP1 (C317F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1711097	GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3	ADAMTS2, ARL10 +117 more	Copy number gain	See cases	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1527205	GRCh37/hg19 5q34-35.1(chr5:164207156-172799124)	ATP6V0E1, BNIP1 +35 more	Copy number loss	not specified	GPathogenic
Select item 981214	GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3	ADAMTS2, ARL10 +115 more	Copy number gain	5q35 microduplication syndrome	GPathogenic
Select item 742343	NM_004417.4(DUSP1):c.342C>G (p.Arg114=)	DUSP1, LOC129995282	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 728467	NM_004417.4(DUSP1):c.855T>C (p.Phe285=)	DUSP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 692223	GRCh37/hg19 5q34-35.2(chr5:166421173-173324843)x1	SPDL1, TENM2 +37 more	Copy number loss	Atrial septal defect 7	GPathogenic
Select item 684725	NC_000005.9:g.172068277_172342131dup	DUSP1, ERGIC1 +1 more	Duplication	Congenital hydrocephalus	GUncertain significance
Select item 442855	GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3	ADAMTS2, ARL10 +106 more	Copy number gain	See cases	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	ABLIM3, ACOT12 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +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 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	ABLIM3, CBY3 +520 more	Copy number gain	See cases	GPathogenic
Select item 221448	GRCh37/hg19 5q35.1(chr5:172097061-172421802)x3	ATP6V0E1, DUSP1 +3 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	ADAMTS2, ARL10 +622 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	LOC129995377, LOC129995378 +676 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995188, LOC129995189 +863 more	Copy number gain	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 29