8572[geneid] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 59673	GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1	LOC129994580, LOC129994581 +336 more	Copy number loss	See cases	GPathogenic
Select item 58356	GRCh38/hg38 5q23.2-31.1(chr5:126438406-132873967)x1	ACSL6, ACSL6-AS1 +200 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129995052, LOC129995053 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 146119	GRCh38/hg38 5q31.1(chr5:131626503-135815054)x1	LOC129994691, LOC129994692 +263 more	Copy number loss	See cases	GPathogenic
Select item 6348	NC_000005.10:g.132251371C>T	PDLIM4	Single nucleotide variant	Bone mineral density quantitative trait locus 15	Grisk factor
Select item 2351689	NM_003687.4(PDLIM4):c.11C>T (p.Ser4Phe)	PDLIM4 (S4F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2655694	NM_003687.4(PDLIM4):c.245+4T>C	PDLIM4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2254781	NM_003687.4(PDLIM4):c.338C>G (p.Pro113Arg)	PDLIM4 (P113R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306212	NM_003687.4(PDLIM4):c.356C>T (p.Pro119Leu)	PDLIM4 (P119L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528283	NM_003687.4(PDLIM4):c.422C>G (p.Pro141Arg)	PDLIM4 (P141R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216305	NM_003687.4(PDLIM4):c.454G>A (p.Glu152Lys)	PDLIM4 (E152K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346778	NM_003687.4(PDLIM4):c.661G>T (p.Gly221Cys)	PDLIM4 (G221C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306612	NM_003687.4(PDLIM4):c.988G>T (p.Val330Phe)	PDLIM4 (V330F)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3062825	GRCh37/hg19 5q31.1(chr5:131502885-131673154)x1	P4HA2, PDLIM4 +1 more	Copy number loss	not specified	GUncertain significance
Select item 2506534	GRCh37/hg19 5q23.3-31.1(chr5:127800418-134002686)	ACSL6, ADAMTS19 +44 more	Copy number loss	Houge-Janssens syndrome 3	GPathogenic
Select item 832924	NC_000005.9:g.(?_131436897)_(131729974_?)del	P4HA2, PDLIM4 +2 more	Deletion	Renal carnitine transport defect	GPathogenic
Select item 830550	NC_000005.9:g.(?_130497712)_(131729974_?)del	ACSL6, CDC42SE2 +10 more	Deletion	Renal carnitine transport defect	GPathogenic
Select item 688839	GRCh37/hg19 5q31.1(chr5:131504297-131673288)x1	P4HA2, PDLIM4 +1 more	Copy number loss	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 624508	GRCh37/hg19 5q23.2-31.2(chr5:126377719-136270989)x1	ACSL6, ADAMTS19 +68 more	Copy number loss	not provided	GLikely pathogenic
Select item 559504	GRCh37/hg19 5q31.1(chr5:131484039-132998360)x3	SLC22A4, LEAP2 +19 more	Copy number gain	Blepharophimosis +5 more	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	ARAP3, CCDC69 +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	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

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Items: 29