ClinVar for Gene (Select 3621) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3286007	NM_198219.3(ING1):c.496C>T (p.His166Tyr)	ING1 (H122Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286006	NM_198219.3(ING1):c.136+1247T>C	ING1, LOC130010137 (M30T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3286005	NM_198219.3(ING1):c.136+1310G>C	ING1, LOC130010137 (R51P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286004	NM_198219.3(ING1):c.304C>T (p.Arg102Cys)	ING1 (R58C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286002	NM_198219.3(ING1):c.136+1234G>C	ING1, LOC130010137 (A26P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242333	GRCh37/hg19 13q32.3-34(chr13:99892724-115108414)x3	ABHD13, ADPRHL1 +66 more	Copy number gain	not provided	GPathogenic
Select item 3109653	NM_198219.3(ING1):c.379G>A (p.Gly127Ser)	ING1 (G127S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109652	NM_198219.3(ING1):c.324C>G (p.Ser108Arg)	ING1 (S91R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109651	NM_198219.3(ING1):c.136+1714C>T	ING1 (P186S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109650	NM_198219.3(ING1):c.136+1585G>T	ING1 (A143S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109649	NM_198219.3(ING1):c.136+1570G>A	ING1 (G138R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109648	NM_198219.3(ING1):c.136+1567C>T	ING1 (R137C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109647	NM_198219.3(ING1):c.136+1534C>T	ING1 (P126S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109646	NM_198219.3(ING1):c.136+1439C>G	ING1 (S94W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109645	NM_198219.3(ING1):c.572A>G (p.Lys191Arg)	ING1 (K122R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063309	GRCh37/hg19 13q31.1-34(chr13:84669397-115107733)x1	ABCC4, ABHD13 +97 more	Copy number loss	not specified	GPathogenic
Select item 3063307	GRCh37/hg19 13q33.1-34(chr13:102421732-115107733)x1	ABHD13, ADPRHL1 +54 more	Copy number loss	not specified	GPathogenic
Select item 3063302	GRCh37/hg19 13q33.2-34(chr13:106430837-114763645)x3	ABHD13, ADPRHL1 +39 more	Copy number gain	not specified	GUncertain significance
Select item 3063300	GRCh37/hg19 13q33.1-34(chr13:103149209-115107733)x1	ABHD13, ADPRHL1 +53 more	Copy number loss	not specified	GPathogenic
Select item 3063294	GRCh37/hg19 13q31.1-34(chr13:82876219-115107733)x3	ABCC4, ABHD13 +98 more	Copy number gain	not specified	GPathogenic
Select item 3063291	GRCh37/hg19 13q33.2-34(chr13:105761074-115107733)x1	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 3063290	GRCh37/hg19 13q33.1-34(chr13:104389334-115107733)x1	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 3063287	GRCh37/hg19 13q33.2-34(chr13:106591678-115107733)x1	ABHD13, ADPRHL1 +42 more	Copy number loss	not specified	GPathogenic
Select item 2685475	GRCh37/hg19 13q31.1-34(chr13:82131211-115107733)x1	ANKRD10, ANKRD10-IT1 +98 more	Copy number loss	not provided	GPathogenic
Select item 2684705	GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3	GPR18, GRTP1 +121 more	Copy number gain	not provided	GPathogenic
Select item 2684703	GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3	TBC1D4, TEX29 +129 more	Copy number gain	not provided	GPathogenic
Select item 2618637	NM_198219.3(ING1):c.505G>A (p.Asp169Asn)	ING1 (D152N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618560	NM_198219.3(ING1):c.136+1267C>A	ING1, LOC130010137 (L37I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601578	NM_198219.3(ING1):c.440G>C (p.Ser147Thr)	ING1 (S103T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589864	NM_198219.3(ING1):c.136+1501C>T	ING1 (H115Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2579261	GRCh38/hg38 13q32.2-34(chr13:98343655-110990677)x1	ABHD13, ANKRD10 +342 more	Copy number loss	Holoprosencephaly 5	GPathogenic
Select item 2579202	GRCh38/hg38 13q33.3-34(chr13:106425676-114326445)x1	LOC130010165, LOC130010166 +312 more	Copy number loss	Chromosome 13q33-q34 deletion syndrome	GPathogenic
Select item 2558261	NM_198219.3(ING1):c.136+1349C>G	ING1, LOC130010137 (P64R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525190	NM_198219.3(ING1):c.136+1516T>C	ING1 (W120R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2523201	NM_198219.3(ING1):c.136+1668G>T	ING1 (Q170H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516837	NM_198219.3(ING1):c.136+1606G>C	ING1 (A150P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483770	NM_198219.3(ING1):c.136+1522G>A	ING1 (V122M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473404	NM_198219.3(ING1):c.490A>G (p.Ser164Gly)	ING1 (S120G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466630	NM_198219.3(ING1):c.830A>C (p.Tyr277Ser)	ING1 (Y208S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460637	NM_198219.3(ING1):c.429C>A (p.Asp143Glu)	ING1 (D74E +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2460239	NM_198219.3(ING1):c.136+1552C>T	ING1 (P132S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456490	NM_198219.3(ING1):c.136+1627T>C	ING1 (S157P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328563	NM_198219.3(ING1):c.136+1304G>A	ING1, LOC130010137 (G49D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321446	NM_198219.3(ING1):c.422A>T (p.Gln141Leu)	ING1 (Q141L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311157	NM_198219.3(ING1):c.620C>G (p.Pro207Arg)	ING1 (P207R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310491	NM_198219.3(ING1):c.136+1424C>T	ING1 (P89L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292208	NM_198219.3(ING1):c.136+1168G>T	ING1 (V4L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279610	NM_198219.3(ING1):c.136+1388C>T	ING1, LOC130010137 (S77F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266520	NM_198219.3(ING1):c.419C>T (p.Ala140Val)	ING1 (A283V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250138	NM_198219.3(ING1):c.136+1597G>C	ING1 (G147R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246338	NM_198219.3(ING1):c.451C>G (p.Arg151Gly)	ING1 (R151G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243560	NM_198219.3(ING1):c.136+1705C>T	ING1 (R183C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229210	NM_198219.3(ING1):c.136+1516T>G	ING1 (W120G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225909	NM_198219.3(ING1):c.136+1435A>C	ING1 (K93Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809298	GRCh37/hg19 13q32.3-34(chr13:99421603-115107733)x3	ABHD13, ADPRHL1 +67 more	Copy number gain	not provided	GPathogenic
Select item 1808983	GRCh37/hg19 13q32.1-34(chr13:97142120-115107733)x1	ABHD13, ADPRHL1 +76 more	Copy number loss	not provided	GPathogenic
Select item 1807731	GRCh37/hg19 13q22.1-34(chr13:75268539-115107733)x3	ABCC4, ABHD13 +116 more	Copy number gain	not provided	GPathogenic
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	B3GLCT, HS6ST3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1707439	GRCh37/hg19 13q31.2-34(chr13:89490345-115062235)x3	ABCC4, ABHD13 +93 more	Copy number gain	See cases	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	ABCC4, ABHD13 +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1703542	GRCh37/hg19 13q34(chr13:110428062-115107733)	ADPRHL1, ANKRD10 +35 more	Copy number loss	Neurodevelopmental delay	GPathogenic
Select item 1527798	GRCh37/hg19 13q33.2-34(chr13:106450862-115107733)	ABHD13, ADPRHL1 +42 more	Copy number loss	not specified	GPathogenic
Select item 1527797	GRCh37/hg19 13q33.2-34(chr13:106056749-115107733)	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 1527796	GRCh37/hg19 13q33.1-34(chr13:104545892-115107733)	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 1527791	GRCh37/hg19 13q32.3-34(chr13:100258328-115107733)	ABHD13, ADPRHL1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1527788	GRCh37/hg19 13q31.2-34(chr13:88073140-115107733)	ABCC4, ABHD13 +96 more	Copy number loss	not specified	GPathogenic
Select item 1527787	GRCh37/hg19 13q31.1-34(chr13:85037147-115107733)	ABCC4, ABHD13 +97 more	Copy number gain	not specified	GPathogenic
Select item 1527786	GRCh37/hg19 13q31.1-34(chr13:79370012-115107733)	DCUN1D2, ERCC5 +101 more	Copy number loss	not specified	GPathogenic
Select item 1527785	GRCh37/hg19 13q22.3-34(chr13:78514567-115107733)	MIR18A, MIR19A +104 more	Copy number gain	not specified	GPathogenic
Select item 1527777	GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)	ACOD1, ADPRHL1 +129 more	Copy number gain	not specified	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	VPS36, VWA8 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 1338738	NC_000013.11:g.109179481_114327244del	LOC130010213, LOC130010214 +261 more	Deletion	Factor VII deficiency +1 more	GPathogenic
Select item 1333006	Single allele	ANKRD10, ANKRD10-IT1 +17 more	Deletion	Factor VII deficiency +1 more	GLikely pathogenic
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	DACH1, IRS2 +332 more	Copy number gain	See cases	GPathogenic
Select item 1077192	Single allele	ITGBL1, LIG4 +58 more	Deletion	Distal monosomy 13q	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	CENPJ, CHAMP1 +332 more	Copy number gain	See cases	GPathogenic
Select item 981484	Single allele	ABHD13, ADPRHL1 +55 more	Deletion	not provided	GPathogenic
Select item 979995	GRCh37/hg19 13q33.3-34(chr13:109752674-112352804)x1	LINC00567, ANKRD10-IT1 +11 more	Copy number loss	not provided	GUncertain significance
Select item 979994	GRCh37/hg19 13q33.2-34(chr13:106256198-115107733)x1	DCUN1D2, TMEM255B +42 more	Copy number loss	not provided	GPathogenic
Select item 815614	GRCh37/hg19 13q32.1-34(chr13:96895656-115107733)x1	ABHD13, ADPRHL1 +76 more	Copy number loss	not provided	GPathogenic
Select item 815590	GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1	CDC16, NALCN +142 more	Copy number loss	not provided	GPathogenic
Select item 784274	NM_198219.3(ING1):c.136+1486dup	ING1 (R110fs)	Duplication (frameshift variant +1 more)	not provided	GBenign
Select item 725870	NM_198219.3(ING1):c.453G>A (p.Arg151=)	ING1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 687981	GRCh37/hg19 13q33.3-34(chr13:109203109-115107733)x3	ADPRHL1, ANKRD10 +36 more	Copy number gain	not provided	GUncertain significance
Select item 687326	GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3	ABCC4, ABHD13 +129 more	Copy number gain	not provided	GPathogenic
Select item 687002	GRCh37/hg19 13q31.3-34(chr13:94849303-115107733)x3	ABCC4, ABHD13 +86 more	Copy number gain	not provided	GUncertain significance
Select item 685253	GRCh37/hg19 13q34(chr13:111344288-111384093)x3	CARS2, ING1	Copy number gain	not provided	GUncertain significance
Select item 684505	Single allele	ABHD13, ADPRHL1 +40 more	Deletion	not provided	Gnot provided
Select item 625813	GRCh37/hg19 13q33.1-34(chr13:101881803-115091330)	ABHD13, ADPRHL1 +56 more	Copy number gain	not provided	GPathogenic
Select item 564082	GRCh37/hg19 13q22.3-34(chr13:78590089-115107733)x3	ABCC4, ABHD13 +103 more	Copy number gain	not provided	GPathogenic
Select item 564078	GRCh37/hg19 13q33.2-34(chr13:105389857-113467489)x1	ARGLU1, COL4A1 +24 more	Copy number loss	not provided	GPathogenic
Select item 564077	GRCh37/hg19 13q33.3-34(chr13:108083664-115107733)x1	CUL4A, GRTP1 +40 more	Copy number loss	not provided	GPathogenic
Select item 564076	GRCh37/hg19 13q33.3-34(chr13:108567578-115107733)x3	PCID2, TUBGCP3 +39 more	Copy number gain	not provided	GPathogenic
Select item 564074	GRCh37/hg19 13q33.3-34(chr13:109771548-115107733)x1	CDC16, MCF2L +36 more	Copy number loss	not provided	GPathogenic
Select item 564046	GRCh37/hg19 13q34(chr13:110590097-111395766)x3	RAB20, COL4A2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 443213	GRCh37/hg19 13q31.1-34(chr13:83435292-115107733)x3	ABCC4, ABHD13 +98 more	Copy number gain	See cases	GPathogenic
Select item 442938	GRCh37/hg19 13q32.1-34(chr13:96586481-115107733)x1	ABHD13, ADPRHL1 +77 more	Copy number loss	See cases	GPathogenic

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