ClinVar for Gene (Select 64151) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3298721	NM_022346.5(NCAPG):c.1003A>G (p.Ile335Val)	NCAPG (I335V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298720	NM_022346.5(NCAPG):c.514C>T (p.Pro172Ser)	NCAPG (P172S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298719	NM_022346.5(NCAPG):c.1138G>A (p.Val380Ile)	NCAPG (V380I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298718	NM_022346.5(NCAPG):c.1435A>T (p.Asn479Tyr)	NCAPG (N479Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298717	NM_022346.5(NCAPG):c.2644A>G (p.Thr882Ala)	NCAPG (T882A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298716	NM_022346.5(NCAPG):c.2768A>G (p.Glu923Gly)	NCAPG (E923G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298715	NM_022346.5(NCAPG):c.485C>T (p.Ala162Val)	NCAPG (A162V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298714	NM_022346.5(NCAPG):c.823C>T (p.Arg275Trp)	NCAPG (R275W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298713	NM_022346.5(NCAPG):c.841A>G (p.Ile281Val)	NCAPG (I281V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181372	NM_022346.5(NCAPG):c.991T>G (p.Leu331Val)	NCAPG (L331V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181368	NM_022346.5(NCAPG):c.98G>T (p.Arg33Leu)	NCAPG (R33L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181364	NM_022346.5(NCAPG):c.919A>G (p.Ile307Val)	NCAPG (I307V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3181362	NM_022346.5(NCAPG):c.852G>C (p.Leu284Phe)	NCAPG (L284F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181319	NM_022346.5(NCAPG):c.2882G>A (p.Arg961Lys)	LCORL, NCAPG (R961K)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3181316	NM_022346.5(NCAPG):c.2872G>C (p.Val958Leu)	LCORL, NCAPG (V958L)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3181296	NM_022346.5(NCAPG):c.2580T>G (p.Ser860Arg)	NCAPG (S860R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181291	NM_022346.5(NCAPG):c.2537A>C (p.Glu846Ala)	NCAPG (E846A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181288	NM_022346.5(NCAPG):c.2389A>G (p.Asn797Asp)	NCAPG (N797D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181285	NM_022346.5(NCAPG):c.233C>T (p.Ser78Leu)	NCAPG (S78L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181283	NM_022346.5(NCAPG):c.2241A>C (p.Gln747His)	NCAPG (Q747H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181275	NM_022346.5(NCAPG):c.1957G>A (p.Gly653Arg)	NCAPG (G653R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181270	NM_022346.5(NCAPG):c.1721C>T (p.Ser574Leu)	NCAPG (S574L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181255	NM_022346.5(NCAPG):c.1577A>C (p.Lys526Thr)	NCAPG (K526T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181239	NM_022346.5(NCAPG):c.1409G>A (p.Arg470Gln)	NCAPG (R470Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181232	NM_022346.5(NCAPG):c.1138G>C (p.Val380Leu)	NCAPG (V380L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181226	NM_022346.5(NCAPG):c.1024C>T (p.Leu342Phe)	NCAPG (L342F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062787	GRCh37/hg19 4p15.31(chr4:17802069-17853043)x1	DCAF16, LCORL +1 more	Copy number loss	not specified	GUncertain significance
Select item 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 2685107	GRCh37/hg19 4p15.33-15.2(chr4:12238766-23083496)x1	ADGRA3, BOD1L1 +26 more	Copy number loss	not provided	GLikely pathogenic
Select item 2605171	NM_022346.5(NCAPG):c.1262A>T (p.Lys421Ile)	NCAPG (K421I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588234	NM_022346.5(NCAPG):c.491T>C (p.Leu164Pro)	NCAPG (L164P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2583027	GRCh37/hg19 4p15.32-15.31(chr4:17488754-17974508)x3	CLRN2, DCAF16 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2574695	GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	RNF212, RNF4 +162 more	Copy number gain	4p16.3 microduplication syndrome	GPathogenic
Select item 2546174	NM_022346.5(NCAPG):c.1508A>T (p.Lys503Ile)	NCAPG (K503I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536071	NM_022346.5(NCAPG):c.2398G>C (p.Glu800Gln)	NCAPG (E800Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532849	NM_022346.5(NCAPG):c.419T>A (p.Phe140Tyr)	NCAPG (F140Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532357	NM_022346.5(NCAPG):c.529T>C (p.Cys177Arg)	NCAPG (C177R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514392	NM_022346.5(NCAPG):c.1711A>G (p.Met571Val)	NCAPG (M571V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472843	NM_022346.5(NCAPG):c.2971C>T (p.Pro991Ser)	LCORL, NCAPG (P991S)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2470482	NM_022346.5(NCAPG):c.2272G>A (p.Val758Met)	NCAPG (V758M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2455245	NM_022346.5(NCAPG):c.1861A>C (p.Lys621Gln)	NCAPG (K621Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2445987	GRCh38/hg38 4p15.33-14(chr4:11399082-38137335)	FGFBP1, LOC126806998 +393 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 2406818	NM_022346.5(NCAPG):c.1078A>G (p.Ile360Val)	NCAPG (I360V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384981	NM_022346.5(NCAPG):c.2060C>T (p.Ala687Val)	NCAPG (A687V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371367	NM_022346.5(NCAPG):c.205A>G (p.Ile69Val)	NCAPG (I69V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368312	NM_022346.5(NCAPG):c.2914G>A (p.Asp972Asn)	LCORL, NCAPG (D972N)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2366402	NM_022346.5(NCAPG):c.842T>C (p.Ile281Thr)	NCAPG (I281T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362002	NM_022346.5(NCAPG):c.2543G>A (p.Arg848Gln)	NCAPG (R848Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325982	NM_022346.5(NCAPG):c.1435A>G (p.Asn479Asp)	NCAPG (N479D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321097	NM_022346.5(NCAPG):c.1672C>A (p.Gln558Lys)	NCAPG (Q558K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319084	NM_022346.5(NCAPG):c.2618A>G (p.Glu873Gly)	NCAPG (E873G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303119	NM_022346.5(NCAPG):c.743T>C (p.Met248Thr)	NCAPG (M248T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297998	NM_022346.5(NCAPG):c.589C>T (p.Arg197Trp)	NCAPG (R197W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275960	NM_022346.5(NCAPG):c.74C>T (p.Ala25Val)	NCAPG (A25V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269558	NM_022346.5(NCAPG):c.463A>T (p.Ile155Phe)	NCAPG (I155F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258309	NM_022346.5(NCAPG):c.2188C>G (p.Leu730Val)	NCAPG (L730V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257088	NM_022346.5(NCAPG):c.2818C>G (p.Gln940Glu)	NCAPG (Q940E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253599	NM_022346.5(NCAPG):c.1589A>G (p.Asp530Gly)	NCAPG (D530G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246936	NM_022346.5(NCAPG):c.494C>T (p.Ala165Val)	NCAPG (A165V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239622	NM_022346.5(NCAPG):c.2739G>T (p.Leu913Phe)	NCAPG (L913F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218582	NM_022346.5(NCAPG):c.590G>A (p.Arg197Gln)	NCAPG (R197Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213599	NM_022346.5(NCAPG):c.2980G>A (p.Ala994Thr)	LCORL, NCAPG (A994T)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2212778	NM_022346.5(NCAPG):c.641T>C (p.Val214Ala)	NCAPG (V214A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206590	NM_022346.5(NCAPG):c.2795C>T (p.Pro932Leu)	NCAPG (P932L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809003	GRCh37/hg19 4p15.32-15.2(chr4:16249194-24864955)x1	ADGRA3, CCDC149 +16 more	Copy number loss	not provided	GUncertain significance
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1707444	GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1	ABLIM2, ACOX3 +143 more	Copy number loss	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 1527076	GRCh37/hg19 4p15.32-15.31(chr4:16826659-17818949)	CLRN2, DCAF16 +6 more	Copy number gain	not specified	GUncertain significance
Select item 1341071	GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1	HGFAC, UVSSA +141 more	Copy number loss	not provided	GPathogenic
Select item 1180546	GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3	FGFBP2, SMIM20 +161 more	Copy number gain	not provided	GPathogenic
Select item 1180545	GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1	RGS12, RNF212 +140 more	Copy number loss	not provided	GPathogenic
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 816497	GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1	ADD1, ABLIM2 +146 more	Copy number loss	See cases	GPathogenic
Select item 814536	GRCh37/hg19 4p15.32-15.31(chr4:16826786-17818949)x3	CLRN2, DCAF16 +6 more	Copy number gain	not provided	GLikely benign
Select item 814520	GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3	ABLIM2, ACOX3 +161 more	Copy number gain	not provided	GPathogenic
Select item 809719	GRCh37/hg19 4p15.33-15.2(chr4:13529798-22750583)x1	FGFBP2, GBA3 +25 more	Copy number loss	not provided	GUncertain significance
Select item 625699	GRCh37/hg19 4p15.33-15.1(chr4:12778849-27760141)	ADGRA3, ANAPC4 +42 more	Copy number loss	not provided	GPathogenic
Select item 562884	GRCh37/hg19 4p16.3-15.1(chr4:4165334-33324781)x1	ABLIM2, ACOX3 +108 more	Copy number loss	not provided	GPathogenic
Select item 562874	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	GABRA2, GABRA4 +226 more	Copy number gain	not provided	GPathogenic
Select item 503587	GRCh37/hg19 4p15.32-15.31(chr4:16834640-17818885)x3	CLRN2, DCAF16 +6 more	Copy number gain	See cases	GUncertain significance
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	HTRA3, HTT +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 253503	GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 253431	GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1	BOD1L1, LDB2 +161 more	Copy number loss	See cases	GPathogenic
Select item 253400	GRCh37/hg19 4p16.1-15.31(chr4:6447048-20490737)x3	LAP3, CC2D2A +71 more	Copy number gain	See cases	GPathogenic
Select item 219020	GRCh37/hg19 4p16.3-15.31(chr4:44020-19796182)x1	C4orf50, EVC +140 more	Copy number loss	See cases	GPathogenic
Select item 155646	GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1	LOC129992028, LOC129992029 +691 more	Copy number loss	See cases	GPathogenic
Select item 150333	GRCh38/hg38 4p15.32-15.2(chr4:17041381-22524915)x1	ADGRA3, CLRN2 +60 more	Copy number loss	See cases	GUncertain significance
Select item 149255	GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3	LOC126806993, LOC126806994 +702 more	Copy number gain	See cases	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 146534	GRCh38/hg38 4p15.32-15.1(chr4:16925022-32113076)x1	ADGRA3, ANAPC4 +201 more	Copy number loss	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	See cases	GPathogenic

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