3313[geneid] - ClinVar

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Items: 80

	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 146377	GRCh38/hg38 5q31.2(chr5:138179894-139039890)x3	CDC23, CDC25C +49 more	Copy number gain	See cases	GUncertain significance
Select item 2305841	NM_004134.7(HSPA9):c.2017G>C (p.Asp673His)	HSPA9 (D673H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214851	NM_004134.7(HSPA9):c.1976G>A (p.Arg659Gln)	HSPA9 (R659Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107359	NM_004134.7(HSPA9):c.1973A>G (p.Glu658Gly)	HSPA9 (E658G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2655725	NM_004134.7(HSPA9):c.1944C>T (p.Phe648=)	HSPA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1285357	NM_004134.7(HSPA9):c.1933C>T (p.Leu645=)	HSPA9	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3052197	NM_004134.7(HSPA9):c.1914C>T (p.Ser638=)	HSPA9	Single nucleotide variant (synonymous variant)	HSPA9-related disorder	GLikely benign
Select item 788988	NM_004134.7(HSPA9):c.1881C>T (p.Ser627=)	HSPA9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2491619	NM_004134.7(HSPA9):c.1865T>C (p.Leu622Pro)	HSPA9 (L622P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257947	NM_004134.7(HSPA9):c.1813G>T (p.Ala605Ser)	HSPA9 (A605S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1324551	NM_004134.7(HSPA9):c.1728+2T>G	HSPA9	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2285945	NM_004134.7(HSPA9):c.1721G>A (p.Arg574Gln)	HSPA9 (R574Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 733831	NM_004134.7(HSPA9):c.1719G>C (p.Arg573=)	HSPA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3044937	NM_004134.7(HSPA9):c.1516-7A>C	HSPA9	Single nucleotide variant (intron variant)	HSPA9-related disorder	GLikely benign
Select item 799742	NM_004134.7(HSPA9):c.1516-9T>G	HSPA9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 786063	NM_004134.7(HSPA9):c.1515+7del	HSPA9	Deletion (intron variant)	not provided	GBenign
Select item 743030	NM_004134.7(HSPA9):c.1509T>C (p.Phe503=)	HSPA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3284956	NM_004134.7(HSPA9):c.1505A>G (p.Gln502Arg)	HSPA9 (Q502R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 430651	NM_004134.7(HSPA9):c.1426G>A (p.Ala476Thr)	HSPA9 (A476T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 755721	NM_004134.7(HSPA9):c.1401G>A (p.Lys467=)	HSPA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 224070	NM_004134.7(HSPA9):c.1373_1378del (p.Ile458_Asn459del)	HSPA9	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2673029	NM_004134.7(HSPA9):c.1347T>C (p.Thr449=)	HSPA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2316569	NM_004134.7(HSPA9):c.1330T>A (p.Ser444Thr)	HSPA9 (S444T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544448	NM_004134.7(HSPA9):c.1250T>C (p.Val417Ala)	HSPA9 (V417A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465118	NM_004134.7(HSPA9):c.1178C>G (p.Pro393Arg)	HSPA9 (P393R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 779888	NM_004134.7(HSPA9):c.1155T>C (p.Leu385=)	HSPA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3107358	NM_004134.7(HSPA9):c.1090G>A (p.Ala364Thr)	HSPA9 (A364T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354841	NM_004134.7(HSPA9):c.1064T>C (p.Val355Ala)	HSPA9 (V355A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520213	NM_004134.7(HSPA9):c.1049A>G (p.Gln350Arg)	HSPA9 (Q350R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107362	NM_004134.7(HSPA9):c.967G>A (p.Val323Met)	HSPA9 (V323M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 870215	NM_004134.7(HSPA9):c.955C>T (p.Leu319Phe)	HSPA9 (L319F)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 224330	NM_004134.7(HSPA9):c.882_883del (p.Gly295_Val296insTer)	HSPA9	Deletion (frameshift variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 770913	NM_004134.7(HSPA9):c.872_879+9dup	HSPA9	Duplication (splice donor variant)	not provided	GBenign
Select item 870216	NM_004134.7(HSPA9):c.818T>G (p.Leu273Ter)	HSPA9 (L273*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 778215	NM_004134.7(HSPA9):c.774G>A (p.Gln258=)	HSPA9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 749716	NM_004134.7(HSPA9):c.771T>C (p.Ile257=)	HSPA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3038859	NM_004134.7(HSPA9):c.717-6T>A	HSPA9	Single nucleotide variant (intron variant)	HSPA9-related disorder	GLikely benign
Select item 1285358	NM_004134.7(HSPA9):c.717-17del	HSPA9	Deletion (intron variant)	Even-plus syndrome	GBenign
Select item 3069021	NM_004134.7(HSPA9):c.662A>G (p.Asn221Ser)	HSPA9 (N221S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292207	NM_004134.7(HSPA9):c.649C>T (p.Leu217Phe)	HSPA9 (L217F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 738369	NM_004134.7(HSPA9):c.636T>C (p.Ser212=)	HSPA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2247922	NM_004134.7(HSPA9):c.593A>G (p.Asn198Ser)	HSPA9 (N198S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246252	NM_004134.7(HSPA9):c.520A>G (p.Met174Val)	HSPA9 (M174V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 743494	NM_004134.7(HSPA9):c.516G>A (p.Met172Ile)	HSPA9 (M172I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 718997	NM_004134.7(HSPA9):c.489G>A (p.Pro163=)	HSPA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736861	NM_004134.7(HSPA9):c.478T>C (p.Leu160=)	HSPA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 224069	NM_004134.7(HSPA9):c.409_410del (p.Asp136_Ile137insTer)	HSPA9	Deletion (nonsense)	Autosomal dominant sideroblastic anemia	GPathogenic
Select item 3284957	NM_004134.7(HSPA9):c.402G>C (p.Gln134His)	HSPA9 (Q134H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 224329	NM_004134.7(HSPA9):c.383A>G (p.Tyr128Cys)	HSPA9 (Y128C)	Single nucleotide variant (missense variant)	Even-plus syndrome	GPathogenic
Select item 3107361	NM_004134.7(HSPA9):c.380G>A (p.Arg127Gln)	HSPA9 (R127Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 224328	NM_004134.7(HSPA9):c.376C>T (p.Arg126Trp)	HSPA9 (R126W)	Single nucleotide variant (missense variant)	Even-plus syndrome	GPathogenic
Select item 1012524	NM_004134.7(HSPA9):c.320G>A (p.Arg107Gln)	HSPA9 (R107Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3067771	NM_004134.7(HSPA9):c.314C>G (p.Ala105Gly)	HSPA9 (A105G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2467147	NM_004134.7(HSPA9):c.287A>G (p.Asp96Gly)	HSPA9 (D96G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 748890	NM_004134.7(HSPA9):c.183T>C (p.Gly61=)	HSPA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3284955	NM_004134.7(HSPA9):c.163G>T (p.Val55Phe)	HSPA9 (V55F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 737310	NM_004134.7(HSPA9):c.82-8dup	HSPA9	Duplication (intron variant)	not provided	GLikely benign
Select item 3051866	NM_004134.7(HSPA9):c.78C>T (p.His26=)	HSPA9	Single nucleotide variant (synonymous variant)	HSPA9-related disorder	GLikely benign
Select item 725734	NM_004134.7(HSPA9):c.76C>T (p.His26Tyr)	HSPA9 (H26Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3284954	NM_004134.7(HSPA9):c.73C>T (p.Arg25Cys)	HSPA9 (R25C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284953	NM_004134.7(HSPA9):c.32G>A (p.Arg11His)	HSPA9 (R11H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 786064	NM_004134.7(HSPA9):c.21T>G (p.Ala7=)	HSPA9	Single nucleotide variant (synonymous variant)	Even-plus syndrome +2 more	GBenign/Likely benign
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 1809220	GRCh37/hg19 5q31.2(chr5:137893096-138868605)x3	CTNNA1, DNAJC18 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1020265	NC_000005.9:g.(?_136633338)_(140998481_?)dup	PCDHA8, PCDHA9 +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 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 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	ARAP3, ARB2A +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: 80