10974[HGNC] - ClinVar

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Items: 60

	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 144268	GRCh38/hg38 5q31.1-31.3(chr5:135297294-140106003)x3	BRD8, CDC23 +236 more	Copy number gain	See cases	GPathogenic
Select item 145330	GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3	ECSCR, EGR1 +224 more	Copy number gain	See cases	GPathogenic
Select item 58388	GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	ANKHD1, ANKHD1-DT +377 more	Copy number loss	See cases	GPathogenic
Select item 147882	GRCh38/hg38 5q31.2(chr5:139103408-139683294)x3	CXXC5, CXXC5-AS1 +74 more	Copy number gain	See cases	GUncertain significance
Select item 58117	GRCh38/hg38 5q31.2(chr5:139151411-139493628)x3	DNAJC18, ECSCR +47 more	Copy number gain	See cases	GPathogenic
Select item 2213013	NM_016480.5(PAIP2):c.373G>A (p.Gly125Arg)	PAIP2, SLC23A1 (G125R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3163505	NM_005847.5(SLC23A1):c.1750G>A (p.Asp584Asn)	SLC23A1 (D584N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325934	NM_005847.5(SLC23A1):c.1741A>G (p.Ile581Val)	SLC23A1 (I581V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3319149	NM_005847.5(SLC23A1):c.1736T>C (p.Ile579Thr)	SLC23A1 (I579T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319146	NM_005847.5(SLC23A1):c.1729G>T (p.Asp577Tyr)	SLC23A1 (D577Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491986	NM_005847.5(SLC23A1):c.1649T>C (p.Met550Thr)	SLC23A1 (M554T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377171	NM_005847.5(SLC23A1):c.1610T>C (p.Met537Thr)	SLC23A1 (M541T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3319148	NM_005847.5(SLC23A1):c.1608C>A (p.Asp536Glu)	SLC23A1 (D536E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 785138	NM_005847.5(SLC23A1):c.1550-9C>T	SLC23A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2230893	NM_005847.5(SLC23A1):c.1418A>G (p.Asn473Ser)	SLC23A1 (N473S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473090	NM_005847.5(SLC23A1):c.1409C>T (p.Thr470Met)	SLC23A1 (T474M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163504	NM_005847.5(SLC23A1):c.1346T>G (p.Phe449Cys)	SLC23A1 (F449C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244487	NM_005847.5(SLC23A1):c.1240G>A (p.Gly414Ser)	SLC23A1 (G414S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542907	NM_005847.5(SLC23A1):c.1204T>G (p.Tyr402Asp)	SLC23A1 (Y402D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709227	NM_005847.5(SLC23A1):c.1077C>G (p.Gly359=)	SLC23A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2206356	NM_005847.5(SLC23A1):c.1051C>A (p.Pro351Thr)	SLC23A1 (P355T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525565	NM_005847.5(SLC23A1):c.944C>T (p.Thr315Met)	SLC23A1 (T315M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778216	NM_005847.5(SLC23A1):c.873T>C (p.Asp291=)	SLC23A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2556672	NM_005847.5(SLC23A1):c.826G>A (p.Val276Met)	SLC23A1 (V280M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785139	NM_005847.5(SLC23A1):c.772A>G (p.Met258Val)	SLC23A1 (M258V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3163507	NM_005847.5(SLC23A1):c.574G>A (p.Val192Ile)	SLC23A1 (V192I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655729	NM_005847.5(SLC23A1):c.558C>G (p.Leu186=)	SLC23A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2392392	NM_005847.5(SLC23A1):c.493G>A (p.Val165Met)	SLC23A1 (V165M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3163506	NM_005847.5(SLC23A1):c.465+8T>G	SLC23A1 (L158W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534840	NM_005847.5(SLC23A1):c.352G>A (p.Ala118Thr)	SLC23A1 (A118T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558485	NM_005847.5(SLC23A1):c.314C>T (p.Pro105Leu)	SLC23A1 (P105L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540872	NM_005847.5(SLC23A1):c.262A>G (p.Thr88Ala)	SLC23A1 (T88A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324029	NM_005847.5(SLC23A1):c.250G>A (p.Gly84Ser)	SLC23A1 (G84S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608369	NM_005847.5(SLC23A1):c.56C>G (p.Pro19Arg)	SLC23A1 (P19R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469481	NM_005847.5(SLC23A1):c.51G>C (p.Arg17Ser)	SLC23A1 (R17S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558013	NM_005847.5(SLC23A1):c.34C>G (p.Gln12Glu)	SLC23A1 (Q12E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 749022	NM_005847.5(SLC23A1):c.22G>A (p.Glu8Lys)	SLC23A1 (E8K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3246406	NC_000005.9:g.(?_138356840)_(138860503_?)dup	DNAJC18, ECSCR +9 more	Duplication	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2427648	NC_000005.9:g.(?_136957787)_(138861289_?)del	BRD8, CDC23 +29 more	Deletion	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2425421	NC_000005.9:g.(?_136957787)_(140078137_?)dup	ANKHD1, ANKHD1-EIF4EBP3 +53 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2424306	NC_000005.9:g.(?_138266142)_(138861289_?)dup	CTNNA1, DNAJC18 +10 more	Duplication	not provided	GUncertain significance
Select item 1809220	GRCh37/hg19 5q31.2(chr5:137893096-138868605)x3	CTNNA1, DNAJC18 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1340844	GRCh37/hg19 5q31.2(chr5:138675227-139314012)x1	CXXC5, DNAJC18 +10 more	Copy number loss	not provided	GUncertain significance
Select item 1340692	GRCh37/hg19 5q31.2(chr5:138386858-138935115)x3	DNAJC18, ECSCR +9 more	Copy number gain	not provided	GUncertain significance
Select item 1020265	NC_000005.9:g.(?_136633338)_(140998481_?)dup	PCDHA11, PCDHA12 +116 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 988915	GRCh37/hg19 5q31.2(chr5:137754277-138994590)x1	CTNNA1, DNAJC18 +17 more	Copy number loss	not provided	GLikely pathogenic
Select item 980740	GRCh37/hg19 5q31.2(chr5:138351402-138893343)x3	DNAJC18, ECSCR +9 more	Copy number gain	not provided	GUncertain significance
Select item 980739	GRCh37/hg19 5q31.2(chr5:138101724-138876953)x3	CTNNA1, DNAJC18 +11 more	Copy number gain	not provided	GUncertain significance
Select item 685436	GRCh37/hg19 5q31.2(chr5:137865800-139097368)x1	CTNNA1, CXXC5 +15 more	Copy number loss	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563110	GRCh37/hg19 5q31.2(chr5:138390162-139160907)x3	CXXC5, DNAJC18 +11 more	Copy number gain	not provided	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	ARB2A, CHD1 +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

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Items: 60