285588[Gene ID] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 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 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	LOC129995377, LOC129995378 +676 more	Copy number gain	See cases	GPathogenic
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 2477330	NM_001171183.2(EFCAB9):c.210G>A (p.Met70Ile)	EFCAB9 (M70I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330687	NM_001171183.2(EFCAB9):c.280C>G (p.His94Asp)	EFCAB9 (H94D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536736	NM_001171183.2(EFCAB9):c.308T>C (p.Met103Thr)	EFCAB9 (M103T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205171	NM_001171183.2(EFCAB9):c.323G>A (p.Arg108Gln)	EFCAB9 (R108Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519304	NM_001171183.2(EFCAB9):c.436C>T (p.Arg146Cys)	EFCAB9 (R146C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301114	NM_001171183.2(EFCAB9):c.463C>T (p.Arg155Cys)	EFCAB9 (R155C)	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 1807670	GRCh37/hg19 5q35.1(chr5:171536921-171942436)x3	EFCAB9, LOC100288254 +3 more	Copy number gain	not provided	GUncertain significance
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 692223	GRCh37/hg19 5q34-35.2(chr5:166421173-173324843)x1	SPDL1, TENM2 +37 more	Copy number loss	Atrial septal defect 7	GPathogenic
Select item 684881	GRCh37/hg19 5q35.1(chr5:171171671-172022583)x1	STK10, UBTD2 +5 more	Copy number loss	not provided	GUncertain significance
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

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Items: 23