ClinVar for Gene (Select 54602) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3298961	NM_019080.3(NDFIP2):c.269C>G (p.Pro90Arg)	NDFIP2 (P90R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185902	NM_019080.3(NDFIP2):c.904C>G (p.Leu302Val)	NDFIP2 (L282V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185886	NM_019080.3(NDFIP2):c.73G>A (p.Glu25Lys)	NDFIP2 (E25K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185880	NM_019080.3(NDFIP2):c.65G>A (p.Gly22Asp)	NDFIP2 (G22D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185876	NM_019080.3(NDFIP2):c.589A>G (p.Met197Val)	NDFIP2 (M196V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185871	NM_019080.3(NDFIP2):c.410C>A (p.Ser137Tyr)	NDFIP2 (S137Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063284	GRCh37/hg19 13q21.1-31.3(chr13:56450978-93582180)x1	ACOD1, ATXN8OS +49 more	Copy number loss	not specified	GPathogenic
Select item 3063280	GRCh37/hg19 13q21.31-33.1(chr13:64825656-103641349)x1	ABCC4, ACOD1 +81 more	Copy number loss	not specified	GPathogenic
Select item 3063279	GRCh37/hg19 13q14.2-32.2(chr13:49547974-98214905)x1	ABCC4, ACOD1 +102 more	Copy number loss	not specified	GPathogenic
Select item 2685473	GRCh37/hg19 13q21.33-33.1(chr13:73132193-104595598)x1	ABCC4, ACOD1 +78 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 2613161	NM_019080.3(NDFIP2):c.131C>A (p.Thr44Lys)	NDFIP2 (T44K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538576	NM_019080.3(NDFIP2):c.730A>C (p.Asn244His)	NDFIP2 (N244H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533888	NM_019080.3(NDFIP2):c.86G>A (p.Gly29Glu)	NDFIP2 (G29E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522713	NM_019080.3(NDFIP2):c.74A>G (p.Glu25Gly)	NDFIP2 (E25G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477527	NM_019080.3(NDFIP2):c.542C>T (p.Thr181Ile)	NDFIP2 (T180I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384838	NM_019080.3(NDFIP2):c.304A>C (p.Thr102Pro)	NDFIP2 (T102P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376635	NM_019080.3(NDFIP2):c.16A>T (p.Ser6Cys)	NDFIP2, NDFIP2-AS1 (S6C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2373913	NM_019080.3(NDFIP2):c.388C>T (p.Pro130Ser)	NDFIP2 (P129S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322667	NM_019080.3(NDFIP2):c.502G>A (p.Gly168Ser)	NDFIP2 (G168S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2309207	NM_019080.3(NDFIP2):c.98A>C (p.Asn33Thr)	NDFIP2 (N33T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286072	NM_019080.3(NDFIP2):c.901G>A (p.Val301Ile)	NDFIP2 (V301I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271136	NM_019080.3(NDFIP2):c.358A>G (p.Ile120Val)	NDFIP2 (I119V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2249994	NM_019080.3(NDFIP2):c.389C>T (p.Pro130Leu)	NDFIP2 (P129L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248245	NM_019080.3(NDFIP2):c.224T>C (p.Val75Ala)	NDFIP2 (V75A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243872	NM_019080.3(NDFIP2):c.85G>C (p.Gly29Arg)	NDFIP2 (G29R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2224951	NM_019080.3(NDFIP2):c.208T>G (p.Ser70Ala)	NDFIP2 (S70A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212360	NM_019080.3(NDFIP2):c.125G>C (p.Gly42Ala)	NDFIP2 (G42A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206605	NM_019080.3(NDFIP2):c.116C>T (p.Ala39Val)	NDFIP2 (A39V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206578	NM_019080.3(NDFIP2):c.11G>A (p.Arg4Gln)	NDFIP2, NDFIP2-AS1 (R4Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1807731	GRCh37/hg19 13q22.1-34(chr13:75268539-115107733)x3	ABCC4, ABHD13 +116 more	Copy number gain	not provided	GPathogenic
Select item 1807668	GRCh37/hg19 13q31.1(chr13:79099535-80675355)x3	NDFIP2, OBI1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	B3GLCT, HS6ST3 +332 more	Copy number gain	not provided	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 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 1527784	GRCh37/hg19 13q22.2-31.2(chr13:75574661-87784831)	KCTD12, NDFIP2 +18 more	Copy number loss	not specified	GPathogenic
Select item 1527778	GRCh37/hg19 13q21.2-31.1(chr13:61686543-83302092)	ACOD1, ATXN8OS +29 more	Copy number loss	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 1527771	GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)	KLHL1, LPAR6 +120 more	Copy number loss	not specified	GPathogenic
Select item 1527766	GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753)	SPART, SPRYD7 +147 more	Copy number loss	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 1341277	GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3	GTF2F2, PRR20D +175 more	Copy number gain	not provided	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 1341055	GRCh37/hg19 13q21.1-31.2(chr13:59574760-89410027)x1	ACOD1, ATXN8OS +35 more	Copy number loss	not provided	GPathogenic
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	DACH1, IRS2 +332 more	Copy number gain	See cases	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	CENPJ, CHAMP1 +332 more	Copy number gain	See cases	GPathogenic
Select item 815600	GRCh37/hg19 13q21.33-31.1(chr13:71502357-86571730)x1	KLF5, LINC00402 +27 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 815587	GRCh37/hg19 13q14.3-31.3(chr13:51512603-91631111)x1	DIS3, KLF5 +62 more	Copy number loss	not provided	GPathogenic
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 687326	GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3	ABCC4, ABHD13 +129 more	Copy number gain	not provided	GPathogenic
Select item 686328	GRCh37/hg19 13q31.1(chr13:79744183-80830079)x3	NDFIP2, RBM26	Copy number gain	not provided	GUncertain significance
Select item 684938	GRCh37/hg19 13q31.1(chr13:79164755-80568672)x1	OBI1, POU4F1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 564082	GRCh37/hg19 13q22.3-34(chr13:78590089-115107733)x3	ABCC4, ABHD13 +103 more	Copy number gain	not provided	GPathogenic
Select item 564079	GRCh37/hg19 13q22.2-31.3(chr13:76942604-90660121)x1	ACOD1, CLN5 +15 more	Copy number loss	not provided	GPathogenic
Select item 545122	NC_000013.11:g.46968080_87381985del40413906	ACOD1, ALG11 +530 more	Deletion	Chromosome 13q14 deletion syndrome	GPathogenic
Select item 503586	GRCh37/hg19 13q22.1-31.3(chr13:74459395-93481294)x1	LMO7, LMO7DN +31 more	Copy number loss	See cases	GPathogenic
Select item 443522	GRCh37/hg19 13q14.3-32.1(chr13:53932358-96586363)x3	ABCC4, ACOD1 +60 more	Copy number gain	See cases	GPathogenic
Select item 442796	GRCh37/hg19 13q21.1-34(chr13:56431743-115107733)	ABCC4, ABHD13 +137 more	Copy number gain	See cases	GPathogenic
Select item 441797	GRCh37/hg19 13q31.1-34(chr13:80058840-115107733)x3	ABCC4, ABHD13 +100 more	Copy number gain	See cases	GPathogenic
Select item 441765	GRCh37/hg19 13q11-34(chr13:19436287-115107733)	FGF9, FLT1 +332 more	Copy number gain	See cases	GPathogenic
Select item 441764	GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 441662	GRCh37/hg19 13q21.33-34(chr13:71871468-115107733)x4	ABCC4, ABHD13 +125 more	Copy number gain	See cases	GPathogenic
Select item 395478	GRCh37/hg19 13q14.3-33.3(chr13:53551300-109850651)x1	MIR4500HG, MIR92A1 +102 more	Copy number loss	See cases	GPathogenic
Select item 394747	GRCh37/hg19 13q22.3-31.1(chr13:77455170-81099829)x1	ACOD1, CLN5 +11 more	Copy number loss	See cases	GPathogenic
Select item 394462	GRCh37/hg19 13q12.11-34(chr13:19571503-115092510)	CRYL1, CSNK1A1L +332 more	Copy number gain	See cases	GPathogenic
Select item 394318	GRCh37/hg19 13q21.33-31.1(chr13:72174742-82221361)x1	LOC100288208, MYCBP2 +25 more	Copy number loss	See cases	GPathogenic
Select item 253533	GRCh37/hg19 13q21.33-31.2(chr13:72013791-88021559)x1	ACOD1, BORA +27 more	Copy number loss	See cases	GPathogenic
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	GTF2F2, LINC00567 +332 more	Copy number gain	See cases	GPathogenic
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 152961	GRCh38/hg38 13q21.31-31.1(chr13:63713365-79638415)x1	ACOD1, ATXN8OS +202 more	Copy number loss	See cases	GPathogenic
Select item 152729	GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3	LOC124946344, LOC124946345 +706 more	Copy number gain	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 150694	GRCh38/hg38 13q31.1(chr13:79491744-79675567)x1	LINC01068, LOC110121375 +2 more	Copy number loss	See cases	GLikely benign
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 150046	GRCh38/hg38 13q22.3-31.3(chr13:78304802-91283940)x1	LINC00331, LINC00333 +87 more	Copy number loss	See cases	GPathogenic
Select item 149780	GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3	LOC130010101, LOC130010102 +705 more	Copy number gain	See cases	GPathogenic
Select item 149578	GRCh38/hg38 13q21.33-31.1(chr13:72681540-79638468)x1	ACOD1, BORA +141 more	Copy number loss	See cases	GPathogenic
Select item 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	LOC130009611, LOC130009612 +938 more	Copy number gain	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 147734	GRCh38/hg38 13q22.3-31.3(chr13:77061780-92460406)x1	EDNRB, EDNRB-AS1 +133 more	Copy number loss	See cases	GPathogenic
Select item 147464	GRCh38/hg38 13q14.2-31.1(chr13:47117587-84300935)x1	OBI1-AS1, OLFM4 +513 more	Copy number loss	See cases	GPathogenic
Select item 147318	GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1	LOC130009942, LOC130009943 +733 more	Copy number loss	See cases	GPathogenic
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 145617	GRCh38/hg38 13q21.2-31.1(chr13:60536344-84553188)x1	ACOD1, ATXN8OS +258 more	Copy number loss	See cases	GPathogenic
Select item 145515	GRCh38/hg38 13q21.32-31.2(chr13:66320998-87855429)x1	ACOD1, ATXN8OS +232 more	Copy number loss	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 144462	GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3	ALG11, ARL11 +729 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	ARHGEF7-AS1, ARHGEF7-AS2 +1268 more	Copy number gain	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	LOC130009917, LOC130009918 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 more	Copy number gain	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	LOC130009567, LOC130009568 +1005 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic

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