286053[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 60403	GRCh38/hg38 8q23.3-24.21(chr8:113288454-126716087)x1	AARD, ANXA13 +315 more	Copy number loss	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC130001070, LOC130001071 +962 more	Copy number gain	See cases	GPathogenic
Select item 2579176	GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3	LOC130001241, LOC130001242 +559 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 144138	GRCh38/hg38 8q24.13-24.21(chr8:122454392-128513076)x3	ANXA13, ATAD2 +286 more	Copy number gain	See cases	GPathogenic
Select item 57127	GRCh38/hg38 8q24.13(chr8:124125245-125337217)x3	FER1L6-AS2, LINC00964 +78 more	Copy number gain	See cases	GPathogenic
Select item 148271	GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	ADCK5, ADCY8 +746 more	Copy number gain	See cases	GPathogenic
Select item 33826	GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	LOC130001144, LOC130001145 +745 more	Copy number gain	See cases	GPathogenic
Select item 144941	GRCh38/hg38 8q24.13(chr8:124895891-125399814)x3	LINC00964, LOC105375742 +29 more	Copy number gain	See cases	GUncertain significance
Select item 152870	GRCh38/hg38 8q24.13(chr8:125084554-125157061)x1	LOC130001092, LOC130001093 +4 more	Copy number loss	See cases	GUncertain significance
Select item 150857	GRCh38/hg38 8q24.13(chr8:125089748-125243024)x1	LOC111365183, LOC126860499 +12 more	Copy number loss	See cases	GUncertain significance
Select item 2696459	NM_173685.4(NSMCE2):c.20C>G (p.Ser7Ter)	NSMCE2 (S7*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1953639	NM_173685.4(NSMCE2):c.34A>G (p.Thr12Ala)	NSMCE2 (T12A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2802413	NM_173685.4(NSMCE2):c.36T>C (p.Thr12=)	NSMCE2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2417319	NM_173685.4(NSMCE2):c.38G>A (p.Gly13Asp)	NSMCE2 (G13D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2093127	NM_173685.4(NSMCE2):c.47_49del (p.Ser16del)	NSMCE2 (S16del)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1512116	NM_173685.4(NSMCE2):c.47C>T (p.Ser16Phe)	NSMCE2 (S16F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1914151	NM_173685.4(NSMCE2):c.63G>A (p.Glu21=)	NSMCE2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2126353	NM_173685.4(NSMCE2):c.84A>G (p.Lys28=)	NSMCE2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2071809	NM_173685.4(NSMCE2):c.114G>C (p.Met38Ile)	NSMCE2 (M38I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1354933	NM_173685.4(NSMCE2):c.118A>G (p.Thr40Ala)	NSMCE2 (T40A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3301164	NM_173685.4(NSMCE2):c.125C>T (p.Ser42Phe)	NSMCE2 (S42F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333923	NM_173685.4(NSMCE2):c.145G>A (p.Val49Met)	NSMCE2 (V49M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2975558	NM_173685.4(NSMCE2):c.158-20G>A	NSMCE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1641214	NM_173685.4(NSMCE2):c.158-17A>G	NSMCE2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1598963	NM_173685.4(NSMCE2):c.158-8dup	NSMCE2	Duplication (intron variant)	not provided	GBenign
Select item 2859604	NM_173685.4(NSMCE2):c.158-14T>G	NSMCE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2145098	NM_173685.4(NSMCE2):c.170G>A (p.Ser57Asn)	NSMCE2 (S57N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2605383	NM_173685.4(NSMCE2):c.181A>G (p.Met61Val)	NSMCE2 (M61V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301167	NM_173685.4(NSMCE2):c.214G>T (p.Asp72Tyr)	NSMCE2 (D72Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1916392	NM_173685.4(NSMCE2):c.214G>A (p.Asp72Asn)	NSMCE2 (D72N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2557042	NM_173685.4(NSMCE2):c.216T>A (p.Asp72Glu)	NSMCE2 (D72E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2052514	NM_173685.4(NSMCE2):c.217C>T (p.Arg73Trp)	NSMCE2 (R73W)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1925505	NM_173685.4(NSMCE2):c.218G>A (p.Arg73Gln)	NSMCE2 (R73Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1931400	NM_173685.4(NSMCE2):c.240G>A (p.Lys80=)	NSMCE2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3301166	NM_173685.4(NSMCE2):c.241G>A (p.Ala81Thr)	NSMCE2 (A81T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1550084	NM_173685.4(NSMCE2):c.265-19_265-16del	NSMCE2	Deletion (intron variant)	not provided	GLikely benign
Select item 2073249	NM_173685.4(NSMCE2):c.265-14G>A	NSMCE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1934539	NM_173685.4(NSMCE2):c.265-11G>A	NSMCE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1345044	NM_173685.4(NSMCE2):c.265-9C>A	NSMCE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3068125	NM_173685.4(NSMCE2):c.265-1G>A	NSMCE2	Single nucleotide variant (splice acceptor variant)	Seckel syndrome 10	GLikely pathogenic
Select item 1718566	NM_173685.4(NSMCE2):c.277C>T (p.Arg93Cys)	NSMCE2 (R93C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1504084	NM_173685.4(NSMCE2):c.291A>G (p.Ile97Met)	NSMCE2 (I97M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 372285	NM_173685.4(NSMCE2):c.346del (p.Ser116fs)	NSMCE2 (S116fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 717224	NM_173685.4(NSMCE2):c.377T>G (p.Phe126Cys)	NSMCE2 (F126C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2089093	NM_173685.4(NSMCE2):c.379G>T (p.Val127Leu)	NSMCE2 (V127L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2795901	NM_173685.4(NSMCE2):c.384G>A (p.Gln128=)	NSMCE2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1927400	NM_173685.4(NSMCE2):c.393A>G (p.Gln131=)	NSMCE2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 657402	NM_173685.4(NSMCE2):c.394C>T (p.Gln132Ter)	NSMCE2 (Q132*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3009014	NM_173685.4(NSMCE2):c.418+9A>G	NSMCE2 (T143A)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1996956	NM_173685.4(NSMCE2):c.418+20T>A	NSMCE2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1695238	NM_173685.4(NSMCE2):c.418+27C>T	NSMCE2 (R149W)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1033207	NM_173685.4(NSMCE2):c.419-18C>T	NSMCE2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2762856	NM_173685.4(NSMCE2):c.419-15T>G	NSMCE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2658807	NM_173685.4(NSMCE2):c.447C>T (p.Asp149=)	NSMCE2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 873019	NM_173685.4(NSMCE2):c.465T>G (p.Asp155Glu)	NSMCE2 (D155E)	Single nucleotide variant (missense variant +1 more)	Microcephaly +4 more	GUncertain significance
Select item 2793895	NM_173685.4(NSMCE2):c.466_470del (p.Glu156fs)	NSMCE2 (E156fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 715013	NM_173685.4(NSMCE2):c.483C>T (p.Thr161=)	NSMCE2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2259139	NM_173685.4(NSMCE2):c.497A>C (p.Asn166Thr)	NSMCE2 (N166T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202384	NM_173685.4(NSMCE2):c.511A>G (p.Ile171Val)	NSMCE2 (I171V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1957375	NM_173685.4(NSMCE2):c.519+4C>T	NSMCE2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1896568	NM_173685.4(NSMCE2):c.519+5C>T	NSMCE2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1382762	NM_173685.4(NSMCE2):c.519+6G>A	NSMCE2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2982982	NM_173685.4(NSMCE2):c.519+14C>T	NSMCE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2818559	NM_173685.4(NSMCE2):c.519+16A>T	NSMCE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1943154	NM_173685.4(NSMCE2):c.519+16A>G	NSMCE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2798569	NM_173685.4(NSMCE2):c.520-18A>G	NSMCE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1479734	NM_173685.4(NSMCE2):c.554G>A (p.Cys185Tyr)	NSMCE2 (C185Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2985353	NM_173685.4(NSMCE2):c.567T>C (p.Tyr189=)	NSMCE2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2855274	NM_173685.4(NSMCE2):c.574G>A (p.Asp192Asn)	NSMCE2 (D192N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1606158	NM_173685.4(NSMCE2):c.576C>T (p.Asp192=)	NSMCE2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1450777	NM_173685.4(NSMCE2):c.577G>A (p.Ala193Thr)	NSMCE2 (A193T)	Single nucleotide variant (missense variant +1 more)	Seckel syndrome 10 +1 more	GUncertain significance
Select item 1624184	NM_173685.4(NSMCE2):c.579C>A (p.Ala193=)	NSMCE2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1504314	NM_173685.4(NSMCE2):c.587G>T (p.Arg196Leu)	NSMCE2 (R196L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1490561	NM_173685.4(NSMCE2):c.588C>T (p.Arg196=)	NSMCE2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1394988	NM_173685.4(NSMCE2):c.609G>T (p.Lys203Asn)	NSMCE2 (K203N)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2071810	NM_173685.4(NSMCE2):c.610C>T (p.Arg204Trp)	NSMCE2 (R204W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1481495	NM_173685.4(NSMCE2):c.611G>A (p.Arg204Gln)	NSMCE2 (R204Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1926528	NM_173685.4(NSMCE2):c.622G>A (p.Ala208Thr)	NSMCE2 (A208T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1900472	NM_173685.4(NSMCE2):c.626+11G>A	NSMCE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1990003	NM_173685.4(NSMCE2):c.626+14G>T	NSMCE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3301168	NM_173685.4(NSMCE2):c.653C>G (p.Thr218Arg)	NSMCE2 (T218R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1416339	NM_173685.4(NSMCE2):c.653C>T (p.Thr218Met)	NSMCE2 (T218M)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1944082	NM_173685.4(NSMCE2):c.654G>A (p.Thr218=)	NSMCE2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1553088	NM_173685.4(NSMCE2):c.658A>G (p.Ile220Val)	NSMCE2 (I220V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign

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