24474[HGNC] - ClinVar

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Items: 27

	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 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +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	ACSL6, ACSL6-AS1 +263 more	Copy number loss	See cases	GPathogenic
Select item 58360	GRCh38/hg38 5q31.1(chr5:132816203-135383158)x1	AFF4, AFF4-DT +147 more	Copy number loss	See cases	GPathogenic
Select item 58361	GRCh38/hg38 5q31.1-31.2(chr5:133401565-138437038)x1	BRD8, C5orf15 +230 more	Copy number loss	See cases	GPathogenic
Select item 59471	GRCh38/hg38 5q31.1(chr5:134873523-135297352)x3	CATSPER3, EPIST +14 more	Copy number gain	See cases	GUncertain significance
Select item 3209066	NM_032151.5(PCBD2):c.76G>A (p.Ala26Thr)	PCBD2 (A26T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251892	NM_032151.5(PCBD2):c.94A>G (p.Thr32Ala)	PCBD2 (T32A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2332565	NM_032151.5(PCBD2):c.110C>T (p.Ala37Val)	PCBD2 (A37V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304525	NM_032151.5(PCBD2):c.173G>T (p.Arg58Ile)	PCBD2 (R58I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541843	NM_032151.5(PCBD2):c.204C>G (p.His68Gln)	PCBD2 (H68Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258009	NM_032151.5(PCBD2):c.233C>G (p.Ser78Cys)	PCBD2 (S78C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475414	NM_032151.5(PCBD2):c.376G>C (p.Ala126Pro)	PCBD2 (A126P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246504	NC_000005.9:g.(?_133533463)_(135398915_?)dup	SLC25A48, TGFBI +21 more	Duplication	not provided	GUncertain significance
Select item 3242297	GRCh37/hg19 5q23.2-31.1(chr5:124864529-134720575)x1	FSTL4, GDF9 +63 more	Copy number loss	not provided	GPathogenic
Select item 2684432	GRCh37/hg19 5q31.1(chr5:133713529-134383753)x3	C5orf24, CAMLG +10 more	Copy number gain	not provided	GUncertain significance
Select item 1527199	GRCh37/hg19 5q31.1(chr5:132829317-134983855)	C5orf15, C5orf24 +22 more	Copy number loss	not specified	GUncertain significance
Select item 1527198	GRCh37/hg19 5q31.1-31.2(chr5:132031902-137623639)	AFF4, BRD8 +53 more	Copy number loss	not specified	GPathogenic
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 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	AFF4, C5orf46 +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
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 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	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

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Items: 27