ClinVar for Gene (Select 286053) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 3245610	NC_000008.10:g.(?_124515613)_(126379127_?)del	ANXA13, FAM91A1 +13 more	Deletion	not provided	GPathogenic
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 3068125	NM_173685.4(NSMCE2):c.265-1G>A	NSMCE2	Single nucleotide variant (splice acceptor variant)	Seckel syndrome 10	GLikely pathogenic
Select item 3063053	GRCh37/hg19 8q24.11-24.22(chr8:118071721-132774256)x1	ADCY8, ANXA13 +51 more	Copy number loss	not specified	GPathogenic
Select item 3063026	GRCh37/hg19 8q24.13(chr8:125898137-126447429)x3	NSMCE2, SQLE +3 more	Copy number gain	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3049251	NM_173685.4(NSMCE2):c.735T>C (p.His245=)	NSMCE2	Single nucleotide variant (synonymous variant +1 more)	NSMCE2-related disorder	GLikely benign
Select item 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	NRBP2, NSMCE2 +173 more	Copy number gain	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 2985353	NM_173685.4(NSMCE2):c.567T>C (p.Tyr189=)	NSMCE2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2983337	NM_173685.4(NSMCE2):c.690A>G (p.Ala230=)	NSMCE2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2982982	NM_173685.4(NSMCE2):c.519+14C>T	NSMCE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975558	NM_173685.4(NSMCE2):c.158-20G>A	NSMCE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2859604	NM_173685.4(NSMCE2):c.158-14T>G	NSMCE2	Single nucleotide variant (intron variant)	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 2818559	NM_173685.4(NSMCE2):c.519+16A>T	NSMCE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2798569	NM_173685.4(NSMCE2):c.520-18A>G	NSMCE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2793895	NM_173685.4(NSMCE2):c.466_470del (p.Glu156fs)	NSMCE2 (E156fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2762856	NM_173685.4(NSMCE2):c.419-15T>G	NSMCE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2685322	GRCh37/hg19 8q24.13(chr8:126101781-126355162)x1	NSMCE2, WASHC5	Copy number loss	not provided	GUncertain significance
Select item 2671975	GRCh37/hg19 8q24.13-24.21(chr8:124534271-129054138)x4	ANXA13, FAM91A1 +19 more	Copy number gain	Distal trisomy 8q	GPathogenic
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 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 2580301	GRCh37/hg19 8q24.11-24.13(chr8:118185471-126635744)x1	ANXA13, ATAD2 +41 more	Copy number loss	Exostoses, multiple, type 1	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 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 2427513	NC_000008.10:g.(?_124515613)_(126379127_?)dup	ANXA13, FAM91A1 +13 more	Duplication	not provided	GUncertain significance
Select item 2427512	NC_000008.10:g.(?_126369441)_(126370080_?)del	NSMCE2	Deletion	not provided	GPathogenic
Select item 2425993	NC_000008.10:g.(?_126036859)_(126379127_?)dup	NSMCE2, WASHC5	Duplication	Hereditary spastic paraplegia 8 +1 more	GUncertain significance
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 2350277	NM_173685.4(NSMCE2):c.730C>A (p.Arg244Ser)	NSMCE2 (R244S)	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 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 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 2126353	NM_173685.4(NSMCE2):c.84A>G (p.Lys28=)	NSMCE2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 2073249	NM_173685.4(NSMCE2):c.265-14G>A	NSMCE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 1996956	NM_173685.4(NSMCE2):c.418+20T>A	NSMCE2	Single nucleotide variant (synonymous variant +2 more)	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 1957375	NM_173685.4(NSMCE2):c.519+4C>T	NSMCE2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 1944082	NM_173685.4(NSMCE2):c.654G>A (p.Thr218=)	NSMCE2	Single nucleotide variant (synonymous variant +1 more)	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 1934539	NM_173685.4(NSMCE2):c.265-11G>A	NSMCE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1927400	NM_173685.4(NSMCE2):c.393A>G (p.Gln131=)	NSMCE2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 1914151	NM_173685.4(NSMCE2):c.63G>A (p.Glu21=)	NSMCE2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1900472	NM_173685.4(NSMCE2):c.626+11G>A	NSMCE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1896568	NM_173685.4(NSMCE2):c.519+5C>T	NSMCE2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1808708	GRCh37/hg19 8q23.3-24.22(chr8:112234557-133668379)x1	AARD, ADCY8 +63 more	Copy number loss	not provided	GPathogenic
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 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
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 1676301	GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	FZD6, PCAT1 +236 more	Copy number gain	not provided	GPathogenic
Select item 1642486	NM_173685.4(NSMCE2):c.738C>T (p.Ser246=)	NSMCE2	Single nucleotide variant (synonymous variant +1 more)	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 1624184	NM_173685.4(NSMCE2):c.579C>A (p.Ala193=)	NSMCE2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1598963	NM_173685.4(NSMCE2):c.158-8dup	NSMCE2	Duplication (intron variant)	not provided	GBenign
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
Select item 1550084	NM_173685.4(NSMCE2):c.265-19_265-16del	NSMCE2	Deletion (intron variant)	not provided	GLikely benign
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
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 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 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 1490561	NM_173685.4(NSMCE2):c.588C>T (p.Arg196=)	NSMCE2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 1448281	NC_000008.10:g.(?_126163393)_(126379127_?)dup	NSMCE2	Duplication	not provided	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 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 1382762	NM_173685.4(NSMCE2):c.519+6G>A	NSMCE2	Single nucleotide variant (intron variant)	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 1345044	NM_173685.4(NSMCE2):c.265-9C>A	NSMCE2	Single nucleotide variant (intron variant)	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 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 815166	GRCh37/hg19 8q24.13(chr8:126178155-126244643)x1	NSMCE2	Copy number loss	not provided	GLikely benign
Select item 815164	GRCh37/hg19 8q24.13(chr8:124878368-126737708)x3	TRIB1, FER1L6 +10 more	Copy number gain	not provided	GUncertain significance
Select item 815163	GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3	ADGRB1, ADCY8 +155 more	Copy number gain	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 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 689071	GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3	ADCK5, ADCY8 +150 more	Copy number gain	not provided	GPathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic

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