10011[geneid] - ClinVar

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Items: 89

	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 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 785142	NM_001035235.4(SRA1):c.653C>T (p.Pro218Leu)	SRA1 (P202L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2232202	NM_001035235.4(SRA1):c.646A>G (p.Thr216Ala)	SRA1 (T216A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322557	NM_001035235.4(SRA1):c.609T>G (p.Asn203Lys)	SRA1 (N203K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322558	NM_001035235.4(SRA1):c.598G>A (p.Glu200Lys)	SRA1 (E184K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169803	NM_001035235.4(SRA1):c.597G>C (p.Glu199Asp)	SRA1 (E199D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1538263	NM_001035235.4(SRA1):c.580A>G (p.Arg194Gly)	SRA1 (R178G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2269276	NM_001035235.4(SRA1):c.572C>T (p.Ala191Val)	SRA1 (A175V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2189939	NM_001035235.4(SRA1):c.564A>G (p.Arg188=)	SRA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2386983	NM_001035235.4(SRA1):c.514A>G (p.Met172Val)	SRA1 (M172V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495914	NM_001035235.4(SRA1):c.506G>A (p.Arg169His)	SRA1 (R153H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1301591	NM_001035235.4(SRA1):c.500T>C (p.Ile167Thr)	SRA1 (I151T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 1598786	NM_001035235.4(SRA1):c.486C>T (p.Asp162=)	SRA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2960863	NM_001035235.4(SRA1):c.463+20T>C	SRA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1591816	NM_001035235.4(SRA1):c.413G>A (p.Gly138Glu)	SRA1 (G122E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1460611	NM_001035235.4(SRA1):c.405G>T (p.Gln135His)	SRA1 (Q135H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1469232	NM_001035235.4(SRA1):c.404A>C (p.Gln135Pro)	SRA1 (Q119P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2266995	NM_001035235.4(SRA1):c.383G>C (p.Arg128Pro)	SRA1 (R128P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1575950	NM_001035235.4(SRA1):c.383G>A (p.Arg128His)	SRA1 (R112H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1498410	NM_001035235.4(SRA1):c.373A>G (p.Ile125Val)	SRA1 (I109V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2239812	NM_001035235.4(SRA1):c.350C>A (p.Thr117Lys)	SRA1 (T117K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 638187	NM_001035235.4(SRA1):c.341G>A (p.Arg114His)	SRA1 (R126H +1 more)	Single nucleotide variant (missense variant +2 more)	Hypogonadism with anosmia	GUncertain significance
Select item 3040039	NM_001035235.4(SRA1):c.314C>T (p.Pro105Leu)	SRA1 (P105L)	Single nucleotide variant (missense variant +2 more)	SRA1-related disorder	GLikely benign
Select item 1344746	NM_001035235.4(SRA1):c.293_294del (p.Val98fs)	SRA1 (V98fs)	Microsatellite (frameshift variant +2 more)	Amenorrhea	GUncertain significance
Select item 1594005	NM_001035235.4(SRA1):c.292_293insGAC (p.Val98delinsGlyLeu)	SRA1	Insertion (inframe_indel +2 more)	not provided	GBenign
Select item 1266460	NM_001035235.4(SRA1):c.292_293insAC (p.Val98fs)	SRA1 (V98fs)	Insertion (non-coding transcript variant +2 more)	not provided	GBenign
Select item 1665505	NM_001035235.4(SRA1):c.292G>C (p.Val98Leu)	SRA1 (V98L)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 768033	NM_001035235.4(SRA1):c.291_292insC (p.Val98fs)	SRA1 (V110fs +1 more)	Insertion (frameshift variant +2 more)	not provided	GBenign
Select item 2176494	NM_001035235.4(SRA1):c.279C>T (p.Val93=)	SRA1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2512390	NM_001035235.4(SRA1):c.269G>C (p.Ser90Thr)	SRA1 (S90T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2000154	NM_001035235.4(SRA1):c.238A>C (p.Ser80Arg)	SRA1 (S80R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2987239	NM_001035235.4(SRA1):c.234G>T (p.Val78=)	SRA1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1549469	NM_001035235.4(SRA1):c.230C>T (p.Pro77Leu)	SRA1 (P77L)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2251511	NM_001035235.4(SRA1):c.196C>A (p.Pro66Thr)	SRA1 (P66T)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2283728	NM_001035235.4(SRA1):c.194C>G (p.Pro65Arg)	SRA1 (P65R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2713839	NM_001035235.4(SRA1):c.184C>G (p.Pro62Ala)	SRA1 (P62A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2158715	NM_001035235.4(SRA1):c.183C>G (p.Pro61=)	SRA1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1608102	NM_001035235.4(SRA1):c.182C>T (p.Pro61Leu)	SRA1 (P61L)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2361159	NM_001035235.4(SRA1):c.181C>T (p.Pro61Ser)	SRA1 (P61S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3004064	NM_001035235.4(SRA1):c.165_166del (p.Glu55fs)	SRA1 (E55fs)	Microsatellite (frameshift variant +2 more)	not provided	GUncertain significance
Select item 2977524	NM_001035235.4(SRA1):c.163G>C (p.Glu55Gln)	SRA1 (E55Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2300055	NM_001035235.4(SRA1):c.157G>A (p.Ala53Thr)	SRA1 (A53T)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 1280793	NM_001035235.4(SRA1):c.152-9_152-8del	SRA1	Deletion (intron variant)	not provided	GBenign
Select item 1581925	NM_001035235.4(SRA1):c.152-10A>T	SRA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272493	NM_001035235.4(SRA1):c.152-161G>A	SRA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289182	NM_001035235.4(SRA1):c.151+50_151+51del	SRA1	Deletion (intron variant)	not provided	GBenign
Select item 1225239	NM_001035235.4(SRA1):c.151+49_151+51del	SRA1	Deletion (intron variant)	not provided	GBenign
Select item 1554086	NM_001035235.4(SRA1):c.151+7G>A	SRA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2391439	NM_001035235.4(SRA1):c.135G>T (p.Gln45His)	SRA1 (Q45H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468409	NM_001035235.4(SRA1):c.134A>T (p.Gln45Leu)	SRA1 (R97W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2561215	NM_001035235.4(SRA1):c.128C>T (p.Ala43Val)	SRA1 (H95Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1631943	NM_001035235.4(SRA1):c.126C>G (p.Ala42=)	SRA1 (P94R)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2057873	NM_001035235.4(SRA1):c.123C>T (p.Val41=)	SRA1 (S93L)	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1233129	NM_001035235.4(SRA1):c.123C>A (p.Val41=)	SRA1 (S93*)	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3169802	NM_001035235.4(SRA1):c.91G>A (p.Gly31Arg)	SRA1 (G31R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2759276	NM_001035235.4(SRA1):c.84G>A (p.Gln28=)	SRA1 (R80K)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3169800	NM_001035235.4(SRA1):c.65C>T (p.Ser22Leu)	SRA1 (S22L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1335598	NM_001035235.4(SRA1):c.58C>G (p.Gln20Glu)	SRA1 (Q20E)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 3169804	NM_001035235.4(SRA1):c.53C>G (p.Pro18Arg)	SRA1 (P18R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 785143	NM_001035235.4(SRA1):c.48C>T (p.Asn16=)	SRA1 (T68M)	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2600532	NM_001035235.4(SRA1):c.28A>G (p.Asn10Asp)	SRA1 (N10D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3058167	NM_001035235.4(SRA1):c.26-11C>T	SRA1 (S57L)	Single nucleotide variant (missense variant +2 more)	SRA1-related disorder	GLikely benign
Select item 3041584	NM_001035235.4(SRA1):c.26-64C>T	SRA1	Single nucleotide variant (synonymous variant +2 more)	SRA1-related disorder	GLikely benign
Select item 1291704	NM_001035235.4(SRA1):c.25+33T>C	SRA1 (C20R)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 1929573	NM_001035235.4(SRA1):c.25+9A>G	SRA1 (S12G)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2417207	NM_001035235.4(SRA1):c.25+3G>C	SRA1 (E10Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2136337	NM_001035235.4(SRA1):c.23C>T (p.Pro8Leu)	SRA1 (P8L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2345305	NM_001035235.4(SRA1):c.-18G>A	SRA1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1488325	NR_045586.1(SRA1):n.617_624del	SRA1	Deletion (non-coding transcript variant)	not provided	GUncertain significance
Select item 3169801	NM_001035235.3(SRA1):c.11G>A (p.Cys4Tyr)	SRA1 (C4Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225590	NM_001035235.3(SRA1):c.5C>G (p.Thr2Arg)	SRA1 (T2R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3044899	NM_001035235.3(SRA1):c.-6C>G	SRA1	Single nucleotide variant (non-coding transcript variant)	SRA1-related disorder	GLikely benign
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 2424471	NC_000005.9:g.(?_139930285)_(140078137_?)del	APBB3, CD14 +9 more	Deletion	not provided	GUncertain significance
Select item 1330185	GRCh37/hg19 5q31.2-31.3(chr5:139493717-140517454)x1	PCDHA2, PCDHA6 +44 more	Copy number loss	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GPathogenic
Select item 1020265	NC_000005.9:g.(?_136633338)_(140998481_?)dup	APBB3, BRD8 +116 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 686048	GRCh37/hg19 5q31.2-31.3(chr5:139447779-140047037)x3	ANKHD1, ANKHD1-EIF4EBP3 +15 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563111	GRCh37/hg19 5q31.2-31.3(chr5:139147238-141540491)x1	PCDHA13, PCDHGB5 +92 more	Copy number loss	not provided	GPathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	CCDC69, CCNH +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: 89