ClinVar for Gene (Select 7468) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3339088	NM_001042424.3(NSD2):c.4047G>A (p.Lys1349=)	NSD2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3301137	NM_001042424.3(NSD2):c.2108G>C (p.Gly703Ala)	NSD2 (G703A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301136	NM_001042424.3(NSD2):c.775G>A (p.Ala259Thr)	NSD2 (A259T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301135	NM_001042424.3(NSD2):c.1864T>A (p.Ser622Thr)	NSD2 (S622T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301134	NM_001042424.3(NSD2):c.346C>T (p.Pro116Ser)	NSD2 (P116S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301133	NM_001042424.3(NSD2):c.68A>G (p.Gln23Arg)	NSD2 (Q23R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301132	NM_001042424.3(NSD2):c.4021C>G (p.Pro1341Ala)	NSD2 (P1341A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301131	NM_001042424.3(NSD2):c.1325A>G (p.Lys442Arg)	NSD2 (K442R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3301130	NM_001042424.3(NSD2):c.4025C>A (p.Pro1342His)	NSD2 (P1342H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3301129	NM_001042424.3(NSD2):c.634A>G (p.Arg212Gly)	NSD2 (R212G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301128	NM_001042424.3(NSD2):c.3958C>T (p.Arg1320Trp)	NSD2 (R1320W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3256648	NM_001042424.3(NSD2):c.3338A>G (p.Asp1113Gly)	NSD2 (D1113G)	Single nucleotide variant (missense variant)	Rauch-Steindl syndrome	GUncertain significance
Select item 3254834	NM_001042424.3(NSD2):c.1406A>T (p.Asp469Val)	NSD2 (D469V)	Single nucleotide variant (missense variant)	Rauch-Steindl syndrome	GUncertain significance
Select item 3254589	NM_001042424.3(NSD2):c.1019G>A (p.Arg340Gln)	NSD2 (R340Q)	Single nucleotide variant (missense variant)	Rauch-Steindl syndrome	GUncertain significance
Select item 3253394	NM_001042424.3(NSD2):c.48_52del (p.Lys17fs)	NSD2 (K17fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3253366	NM_001042424.3(NSD2):c.908C>G (p.Thr303Arg)	NSD2 (T303R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251767	NM_001042424.3(NSD2):c.540G>T (p.Glu180Asp)	NSD2 (E180D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251618	NM_001042424.3(NSD2):c.1126T>A (p.Ser376Thr)	NSD2 (S376T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250648	NM_001042424.3(NSD2):c.1910C>T (p.Ser637Leu)	NSD2 (S637L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3248645	NM_001042424.3(NSD2):c.2714C>T (p.Pro905Leu)	NSD2 (P905L)	Single nucleotide variant (missense variant)	Rauch-Steindl syndrome	GPathogenic
Select item 3246774	NC_000004.11:g.(?_1795662)_(1941525_?)dup	FGFR3, LETM1 +1 more	Duplication	not provided	GUncertain significance
Select item 3246727	NC_000004.11:g.(?_1795662)_(3495228_?)del	ADD1, DOK7 +21 more	Deletion	not provided	GPathogenic
Select item 3246703	NC_000004.11:g.(?_1795662)_(3495228_?)dup	ADD1, DOK7 +21 more	Duplication	not provided	GUncertain significance
Select item 3235862	NM_001042424.3(NSD2):c.450T>A (p.Asp150Glu)	NSD2 (D150E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3235269	NM_001042424.3(NSD2):c.1589del (p.Lys530fs)	NSD2 (K530fs)	Deletion (frameshift variant)	Syndromic intellectual disability	GLikely pathogenic
Select item 3202302	NM_001042424.3(NSD2):c.940A>G (p.Ile314Val)	NSD2 (I314V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3202301	NM_001042424.3(NSD2):c.929T>A (p.Leu310Gln)	NSD2 (L310Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202300	NM_001042424.3(NSD2):c.51G>C (p.Lys17Asn)	NSD2 (K17N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202299	NM_001042424.3(NSD2):c.4075C>T (p.Arg1359Trp)	NSD2 (R1359W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3202298	NM_001042424.3(NSD2):c.4069G>A (p.Gly1357Ser)	NSD2 (G1357S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202297	NM_001042424.3(NSD2):c.4032G>C (p.Glu1344Asp)	NSD2 (E1344D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202295	NM_001042424.3(NSD2):c.3981C>G (p.Asp1327Glu)	NSD2 (D1327E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202294	NM_001042424.3(NSD2):c.3860T>C (p.Val1287Ala)	NSD2 (V1287A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202293	NM_001042424.3(NSD2):c.3512C>A (p.Ala1171Glu)	NSD2 (A1171E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202292	NM_001042424.3(NSD2):c.32C>G (p.Ser11Cys)	NSD2 (S11C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202290	NM_001042424.3(NSD2):c.2909G>A (p.Arg970His)	NSD2 (R970H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202289	NM_001042424.3(NSD2):c.28C>G (p.Leu10Val)	NSD2 (L10V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202288	NM_001042424.3(NSD2):c.2881+5G>A	NSD2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3202287	NM_001042424.3(NSD2):c.2650A>G (p.Ile884Val)	NSD2 (I884V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3202286	NM_001042424.3(NSD2):c.229G>A (p.Asp77Asn)	NSD2 (D77N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3202285	NM_001042424.3(NSD2):c.1522C>G (p.Leu508Val)	NSD2 (L508V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202284	NM_001042424.3(NSD2):c.1484G>A (p.Ser495Asn)	NSD2 (S495N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3202283	NM_001042424.3(NSD2):c.1465T>A (p.Ser489Thr)	NSD2 (S489T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202282	NM_001042424.3(NSD2):c.1394A>G (p.Gln465Arg)	NSD2 (Q465R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3202281	NM_001042424.3(NSD2):c.1268C>T (p.Pro423Leu)	NSD2 (P423L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3069179	NM_001042424.3(NSD2):c.2277C>A (p.Cys759Ter)	NSD2 (C759*)	Single nucleotide variant (nonsense)	Rauch-Steindl syndrome	GPathogenic
Select item 3066216	NM_001042424.3(NSD2):c.-29-2A>G	NSD2	Single nucleotide variant (splice acceptor variant)	Rauch-Steindl syndrome	GUncertain significance
Select item 3064105	NM_001042424.3(NSD2):c.2518+1G>A	NSD2	Single nucleotide variant (splice donor variant)	Rauch-Steindl syndrome	GPathogenic
Select item 3062809	GRCh37/hg19 4p16.3(chr4:68346-3122209)x1	ADD1, ATP5ME +46 more	Copy number loss	not specified	GPathogenic
Select item 3062796	GRCh37/hg19 4p16.3(chr4:769757-2009467)x3	CPLX1, CRIPAK +20 more	Copy number gain	not specified	GLikely pathogenic
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 3062781	GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1	ABLIM2, ACOX3 +120 more	Copy number loss	not specified	GPathogenic
Select item 3062779	GRCh37/hg19 4p16.3-16.2(chr4:68345-4611819)x1	ADD1, ADRA2C +58 more	Copy number loss	not specified	GPathogenic
Select item 3062771	GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1	ADD1, ADRA2C +82 more	Copy number loss	not specified	GPathogenic
Select item 3062770	GRCh37/hg19 4p16.3(chr4:68345-3510024)x1	ADD1, ATP5ME +51 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 3059006	NM_001042424.3(NSD2):c.1675-10del	NSD2	Deletion (intron variant)	NSD2-related disorder	GLikely benign
Select item 3055702	NM_001042424.3(NSD2):c.1675-11_1675-10del	NSD2	Deletion (intron variant)	NSD2-related disorder	GLikely benign
Select item 3047581	NM_001042424.3(NSD2):c.3515-5C>T	NSD2	Single nucleotide variant (intron variant)	NSD2-related disorder	GLikely benign
Select item 3044854	NM_001042424.3(NSD2):c.3988G>A (p.Ala1330Thr)	NSD2 (A1330T)	Single nucleotide variant (missense variant)	NSD2-related disorder	GUncertain significance
Select item 3044286	NM_001042424.3(NSD2):c.1675-11_1675-10dup	NSD2	Duplication (intron variant)	NSD2-related disorder	GLikely benign
Select item 3041256	NM_001042424.3(NSD2):c.1675-12_1675-10del	NSD2	Deletion (intron variant)	NSD2-related disorder	GLikely benign
Select item 3032323	NM_001042424.3(NSD2):c.3679C>T (p.Arg1227Trp)	NSD2 (R1227W)	Single nucleotide variant (missense variant)	NSD2-related disorder	GUncertain significance
Select item 3024630	GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	CTBP1, CYTL1 +117 more	Copy number loss	not provided	GPathogenic
Select item 3020238	NM_001042424.3(NSD2):c.3270C>T (p.Asn1090=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001083	NM_001042424.3(NSD2):c.3129G>A (p.Pro1043=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996784	NM_001042424.3(NSD2):c.1756+15G>A	NSD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995162	NM_001042424.3(NSD2):c.2445C>T (p.Ala815=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993697	NM_001042424.3(NSD2):c.452T>C (p.Val151Ala)	NSD2 (V151A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977278	NM_001042424.3(NSD2):c.4064G>A (p.Arg1355Gln)	NSD2 (R1355Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975645	NM_001042424.3(NSD2):c.2229T>C (p.Cys743=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972832	NM_001042424.3(NSD2):c.3566C>T (p.Thr1189Met)	NSD2 (T1189M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2962122	NM_001042424.3(NSD2):c.3099G>C (p.Leu1033=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958214	NM_001042424.3(NSD2):c.2675+11T>C	NSD2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2957421	NM_001042424.3(NSD2):c.96C>T (p.Asn32=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2954759	NM_001042424.3(NSD2):c.1669C>T (p.Arg557Trp)	NSD2 (R557W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2909337	NM_001042424.3(NSD2):c.3624C>T (p.Thr1208=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2909263	NM_001042424.3(NSD2):c.1592G>C (p.Arg531Thr)	NSD2 (R531T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2907590	NM_001042424.3(NSD2):c.4048_4053del (p.Gly1350_Lys1351del)	NSD2	Deletion (inframe_deletion)	not provided +1 more	GLikely benign
Select item 2891502	NM_001042424.3(NSD2):c.3892C>T (p.Leu1298Phe)	NSD2 (L1298F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2890862	NM_001042424.3(NSD2):c.3148G>A (p.Glu1050Lys)	NSD2 (E1050K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2875837	NM_001042424.3(NSD2):c.3717G>A (p.Glu1239=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872702	NM_001042424.3(NSD2):c.1675-9A>T	NSD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871544	NM_001042424.3(NSD2):c.3291C>T (p.Ile1097=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2846470	NM_001042424.3(NSD2):c.2863G>A (p.Gly955Arg)	NSD2 (G955R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2824823	NM_001042424.3(NSD2):c.3240G>A (p.Lys1080=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2805570	NM_001042424.3(NSD2):c.1485T>C (p.Ser495=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2805409	NM_001042424.3(NSD2):c.3652G>A (p.Gly1218Ser)	NSD2 (G1218S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2792446	NM_001042424.3(NSD2):c.863G>T (p.Gly288Val)	NSD2 (G288V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2772967	NM_001042424.3(NSD2):c.3458G>A (p.Trp1153Ter)	NSD2 (W1153*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2756188	NM_001042424.3(NSD2):c.1756+12_1756+26del	NSD2	Deletion (intron variant)	not provided	GUncertain significance
Select item 2743359	NM_001042424.3(NSD2):c.2667G>A (p.Gly889=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2729024	NM_001042424.3(NSD2):c.171G>T (p.Leu57=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2723572	NM_001042424.3(NSD2):c.3933A>G (p.Thr1311=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2717126	NM_001042424.3(NSD2):c.4025C>T (p.Pro1342Leu)	NSD2 (P1342L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2692316	NM_001042424.3(NSD2):c.3277G>T (p.Val1093Phe)	NSD2 (V1093F)	Single nucleotide variant (missense variant)	Rauch-Steindl syndrome	GLikely pathogenic
Select item 2691606	NM_001042424.3(NSD2):c.597+17G>A	NSD2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2689618	NM_001042424.3(NSD2):c.3918G>T (p.Glu1306Asp)	NSD2 (E1306D)	Single nucleotide variant (missense variant)	Rauch-Steindl syndrome	GUncertain significance
Select item 2685952	GRCh37/hg19 4p16.3-16.1(chr4:68346-7171784)x3	ADD1, ADRA2C +79 more	Copy number gain	not provided	GPathogenic

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