1642[geneid] - ClinVar

Search results

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150457	GRCh38/hg38 11q12.2(chr11:61181337-61516830)x3	CPSF7, CYB561A3 +23 more	Copy number gain	See cases	GUncertain significance
Select item 2662664	NM_001923.5(DDB1):c.3419A>G (p.His1140Arg)	DDB1, LOC126861224 (H1140R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3271179	NM_001923.5(DDB1):c.3405G>C (p.Glu1135Asp)	DDB1, LOC126861224 (E1135D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080706	NM_001923.5(DDB1):c.3333C>A (p.Asn1111Lys)	DDB1, LOC126861224 (N1111K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3367907	NM_001923.5(DDB1):c.3331A>C (p.Asn1111His)	DDB1, LOC126861224 (N1111H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2483556	NM_001923.5(DDB1):c.3326T>C (p.Val1109Ala)	DDB1, LOC126861224 (V1109A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336175	NM_001923.5(DDB1):c.3271G>C (p.Gly1091Arg)	DDB1, LOC126861224 (G1091R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2446627	NM_001923.5(DDB1):c.3170G>A (p.Arg1057Gln)	DDB1 (R1057Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446261	NM_001923.5(DDB1):c.3137G>A (p.Ser1046Asn)	DDB1 (S1046N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2631722	NM_001923.5(DDB1):c.3074A>G (p.Gln1025Arg)	DDB1 (Q1025R)	Single nucleotide variant (missense variant)	DDB1-related disorder	GUncertain significance
Select item 1320499	NM_001923.5(DDB1):c.3013A>G (p.Asn1005Asp)	DDB1 (N1005D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3271182	NM_001923.5(DDB1):c.3010G>A (p.Val1004Ile)	DDB1 (V1004I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3370672	NM_001923.5(DDB1):c.2901_2902dup (p.Ala968fs)	DDB1 (A968fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2431517	NM_001923.5(DDB1):c.2902G>T (p.Ala968Ser)	DDB1 (A968S)	Single nucleotide variant (missense variant)	White-Kernohan syndrome	GUncertain significance
Select item 1802602	NM_001923.5(DDB1):c.2683A>G (p.Thr895Ala)	DDB1 (T895A)	Single nucleotide variant (missense variant)	White-Kernohan syndrome	GUncertain significance
Select item 3080705	NM_001923.5(DDB1):c.2672A>G (p.Tyr891Cys)	DDB1 (Y891C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3036666	NM_001923.5(DDB1):c.2662-3C>A	DDB1	Single nucleotide variant (intron variant)	DDB1-related disorder	GLikely benign
Select item 3251774	NM_001923.5(DDB1):c.2662-8C>A	DDB1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2641822	NM_001923.5(DDB1):c.2660C>T (p.Thr887Met)	DDB1 (T887M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2412956	NM_001923.5(DDB1):c.2647A>G (p.Ser883Gly)	DDB1 (S883G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3067969	NM_001923.5(DDB1):c.2632G>A (p.Gly878Arg)	DDB1 (G878R)	Single nucleotide variant (missense variant)	White-Kernohan syndrome	GUncertain significance
Select item 790094	NM_001923.5(DDB1):c.2607C>T (p.Ala869=)	DDB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3080704	NM_001923.5(DDB1):c.2605G>A (p.Ala869Thr)	DDB1 (A869T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1699476	NM_001923.5(DDB1):c.2578A>G (p.Thr860Ala)	DDB1 (T860A)	Single nucleotide variant (missense variant)	Syndromic intellectual disability	GUncertain significance
Select item 3271176	NM_001923.5(DDB1):c.2380A>G (p.Ile794Val)	DDB1 (I794V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2578529	NM_001923.5(DDB1):c.2378T>C (p.Ile793Thr)	DDB1 (I793T)	Single nucleotide variant (missense variant)	White-Kernohan syndrome	GUncertain significance
Select item 3384139	NM_001923.5(DDB1):c.2353G>A (p.Glu785Lys)	DDB1 (E785K)	Single nucleotide variant (missense variant)	White-Kernohan syndrome	GLikely pathogenic
Select item 776617	NM_001923.5(DDB1):c.2280T>C (p.Ala760=)	DDB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1320350	NM_001923.5(DDB1):c.2276A>C (p.Gln759Pro)	DDB1 (Q759P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3271180	NM_001923.5(DDB1):c.2264G>C (p.Ser755Thr)	DDB1 (S755T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401987	NM_001923.5(DDB1):c.2234C>T (p.Thr745Met)	DDB1 (T745M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080703	NM_001923.5(DDB1):c.2224G>C (p.Val742Leu)	DDB1 (V742L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2632814	NM_001923.5(DDB1):c.2195G>T (p.Cys732Phe)	DDB1 (C732F)	Single nucleotide variant (missense variant)	DDB1-related disorder	GUncertain significance
Select item 3080702	NM_001923.5(DDB1):c.2137C>T (p.Arg713Cys)	DDB1 (R713C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054031	NM_001923.5(DDB1):c.2069+5G>A	DDB1	Single nucleotide variant (intron variant)	DDB1-related disorder	GLikely benign
Select item 3349342	NM_001923.5(DDB1):c.1742T>C (p.Met581Thr)	DDB1 (M581T)	Single nucleotide variant (missense variant)	DDB1-related disorder	GUncertain significance
Select item 2573794	NM_001923.5(DDB1):c.1714C>T (p.Pro572Ser)	DDB1 (P572S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2363992	NM_001923.5(DDB1):c.1700G>A (p.Arg567His)	DDB1 (R567H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234913	NM_001923.5(DDB1):c.1672A>T (p.Ile558Phe)	DDB1 (I558F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080700	NM_001923.5(DDB1):c.1649A>G (p.Asn550Ser)	DDB1 (N550S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1691611	NM_001923.5(DDB1):c.1600A>T (p.Met534Leu)	DDB1 (M534L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3271181	NM_001923.5(DDB1):c.1571A>G (p.Gln524Arg)	DDB1 (Q524R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271178	NM_001923.5(DDB1):c.1544C>T (p.Ala515Val)	DDB1 (A515V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2572850	NM_001923.5(DDB1):c.1519C>G (p.Gln507Glu)	DDB1 (Q507E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576656	NM_001923.5(DDB1):c.1476G>C (p.Glu492Asp)	DDB1 (E492D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3271177	NM_001923.5(DDB1):c.1393C>T (p.His465Tyr)	DDB1 (H465Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443529	NM_001923.5(DDB1):c.1390G>T (p.Ala464Ser)	DDB1 (A464S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3080699	NM_001923.5(DDB1):c.1310T>C (p.Met437Thr)	DDB1 (M437T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1183958	NM_001923.5(DDB1):c.1285T>G (p.Phe429Val)	DDB1 (F429V)	Single nucleotide variant (missense variant)	White-Kernohan syndrome	GPathogenic
Select item 816932	NM_001923.5(DDB1):c.1240C>T (p.Arg414Trp)	DDB1 (R414W)	Single nucleotide variant (missense variant)	Heart, malformation of	GUncertain significance
Select item 1708084	NM_001923.5(DDB1):c.1163G>A (p.Arg388Gln)	DDB1 (R388Q)	Single nucleotide variant (missense variant)	White-Kernohan syndrome	GLikely benign
Select item 782214	NM_001923.5(DDB1):c.1119G>A (p.Gly373=)	DDB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2631278	NM_001923.5(DDB1):c.1034C>T (p.Ser345Phe)	DDB1 (S345F)	Single nucleotide variant (missense variant)	DDB1-related disorder	GUncertain significance
Select item 3239528	NM_001923.5(DDB1):c.1013T>C (p.Val338Ala)	DDB1 (V338A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365919	NM_001923.5(DDB1):c.921+2T>G	DDB1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2506852	NM_001923.5(DDB1):c.901C>G (p.Arg301Gly)	DDB1 (R301G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 718554	NM_001923.5(DDB1):c.762+7G>A	DDB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2641823	NM_001923.5(DDB1):c.762+6C>T	DDB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2499223	NM_001923.5(DDB1):c.748C>G (p.Pro250Ala)	DDB1 (P250A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3236766	NM_001923.5(DDB1):c.679G>T (p.Gly227Trp)	DDB1 (G227W)	Single nucleotide variant (missense variant)	White-Kernohan syndrome	GUncertain significance
Select item 3080708	NM_001923.5(DDB1):c.677T>G (p.Phe226Cys)	DDB1 (F226C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1710454	NM_001923.5(DDB1):c.664+38T>C	DDB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1183957	NM_001923.5(DDB1):c.637G>A (p.Glu213Lys)	DDB1 (E213K)	Single nucleotide variant (missense variant)	White-Kernohan syndrome	GLikely pathogenic
Select item 2250452	NM_001923.5(DDB1):c.613G>A (p.Gly205Ser)	DDB1 (G205S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1183956	NM_001923.5(DDB1):c.563G>A (p.Arg188Gln)	DDB1 (R188Q)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1183955	NM_001923.5(DDB1):c.562C>T (p.Arg188Trp)	DDB1 (R188W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1699795	NM_001923.5(DDB1):c.557_558del (p.Gln186fs)	DDB1 (Q186fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2320858	NM_001923.5(DDB1):c.545A>G (p.Tyr182Cys)	DDB1 (Y182C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319760	NM_001923.5(DDB1):c.524C>T (p.Ala175Val)	DDB1 (A175V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3253566	NM_001923.5(DDB1):c.496G>A (p.Asp166Asn)	DDB1 (D166N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809868	NM_001923.5(DDB1):c.424G>A (p.Val142Ile)	DDB1 (V142I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370935	NM_001923.5(DDB1):c.344C>T (p.Pro115Leu)	DDB1 (P115L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700082	NM_001923.5(DDB1):c.341G>A (p.Arg114His)	DDB1 (R114H)	Single nucleotide variant (missense variant)	Neurodevelopmental delay	GLikely pathogenic
Select item 2374502	NM_001923.5(DDB1):c.314A>G (p.His105Arg)	DDB1 (H105R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3257111	NM_001923.5(DDB1):c.285C>T (p.Gly95=)	DDB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2592499	NM_001923.5(DDB1):c.192G>A (p.Met64Ile)	DDB1 (M64I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482824	NM_001923.5(DDB1):c.149G>A (p.Arg50Gln)	DDB1 (R50Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053257	NM_001923.5(DDB1):c.74C>T (p.Ser25Leu)	DDB1 (S25L)	Single nucleotide variant (missense variant)	DDB1-related disorder	GLikely benign
Select item 3348288	NM_001923.5(DDB1):c.59C>T (p.Thr20Ile)	DDB1 (T20I)	Single nucleotide variant (missense variant)	DDB1-related disorder	GUncertain significance
Select item 3372669	NM_001923.5(DDB1):c.-1C>G	DDB1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815435	GRCh37/hg19 11q12.2-12.3(chr11:60385382-62456278)x3	CD5, CD6 +58 more	Copy number gain	not provided	GUncertain significance
Select item 687991	GRCh37/hg19 11q12.2(chr11:60499486-61529578)x3	CCDC86, CD5 +27 more	Copy number gain	not provided	GUncertain significance
Select item 563873	GRCh37/hg19 11q12.1-12.3(chr11:58935215-62177656)x3	ASRGL1, BEST1 +72 more	Copy number gain	not provided	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 3360424	NM_001923.5(DDB1):c.1734C>A (p.His578Gln)	DDB1 (H578Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360331	NM_001923.5(DDB1):c.1018A>G (p.Ser340Gly)	DDB1 (S340G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360315	NM_001923.5(DDB1):c.188T>G (p.Val63Gly)	DDB1 (V63G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359914	NM_001923.5(DDB1):c.698G>C (p.Gly233Ala)	DDB1 (G233A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676523	NM_001923.5(DDB1):c.1988A>G (p.Asn663Ser)	DDB1 (N663S)	Single nucleotide variant	not provided	GUncertain significance
Select item 1183954	NG_032697.2:g.20705_20713del	DDB1	Deletion	White-Kernohan syndrome	GPathogenic

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Items: 98