30292[HGNC] - ClinVar

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Items: 32

	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 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 3366070	NM_005754.3(G3BP1):c.167A>G (p.Tyr56Cys)	G3BP1 (Y56C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2295770	NM_005754.3(G3BP1):c.343G>C (p.Ala115Pro)	G3BP1 (A115P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097728	NM_005754.3(G3BP1):c.361G>A (p.Ala121Thr)	G3BP1 (A121T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097729	NM_005754.3(G3BP1):c.415G>T (p.Gly139Cys)	G3BP1 (G139C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097730	NM_005754.3(G3BP1):c.455A>T (p.Glu152Val)	G3BP1 (E152V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280321	NM_005754.3(G3BP1):c.509C>A (p.Ser170Tyr)	G3BP1 (S170Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097731	NM_005754.3(G3BP1):c.557A>G (p.His186Arg)	G3BP1 (H186R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280320	NM_005754.3(G3BP1):c.668C>G (p.Ala223Gly)	G3BP1 (A223G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235536	NM_005754.3(G3BP1):c.692C>A (p.Ser231Tyr)	G3BP1 (S231Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485613	NM_005754.3(G3BP1):c.781C>T (p.Pro261Ser)	G3BP1 (P261S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097732	NM_005754.3(G3BP1):c.844C>T (p.Pro282Ser)	G3BP1 (P282S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2504785	NM_005754.3(G3BP1):c.955+3A>G	G3BP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3253246	NM_005754.3(G3BP1):c.986A>G (p.Glu329Gly)	G3BP1 (E329G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2556033	NM_005754.3(G3BP1):c.992G>A (p.Arg331Gln)	G3BP1 (R331Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311793	NM_005754.3(G3BP1):c.1016G>A (p.Ser339Asn)	G3BP1 (S339N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3365326	NM_005754.3(G3BP1):c.1111A>G (p.Ile371Val)	G3BP1 (I371V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365336	NM_005754.3(G3BP1):c.1337C>T (p.Pro446Leu)	G3BP1 (P446L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3246326	NC_000005.9:g.(?_150632778)_(151304110_?)dup	ATOX1, FAT2 +7 more	Duplication	Hereditary hyperekplexia	GUncertain significance
Select item 2424627	NC_000005.9:g.(?_150885126)_(151304110_?)dup	GLRA1, ATOX1 +3 more	Duplication	not provided	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 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	HARS1, HARS2 +385 more	Deletion	Hereditary cancer-predisposing syndrome +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
Select item 3359905	NM_005754.3(G3BP1):c.1343dup (p.Gly449fs)	G3BP1 (G449fs)	Duplication (frameshift variant)	not provided	GUncertain significance

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Items: 32