C0175695[trait identifier] AND "Labcorp Genetics (formerly Invitae), L - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 652389	NC_000005.10:g.(?_177135094)_(177295469_?)del	LOC126807619, LOC129995362 +1 more	Deletion	Beckwith-Wiedemann syndrome +1 more	GPathogenic
Select item 1362160	NM_022455.5(NSD1):c.19C>A (p.Leu7Ile)	NSD1 (L7I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 651239	NM_022455.5(NSD1):c.29G>A (p.Arg10Lys)	NSD1 (R10K)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 1400597	NM_022455.5(NSD1):c.58G>T (p.Val20Leu)	NSD1 (V20L)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 252792	NM_022455.5(NSD1):c.72C>T (p.Ala24=)	NSD1 (P2L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1181820	NM_022455.5(NSD1):c.91C>G (p.Pro31Ala)	NSD1 (P31A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 1972597	NM_022455.5(NSD1):c.97G>A (p.Gly33Ser)	NSD1 (G33S)	Single nucleotide variant (5 prime UTR variant +1 more)	Sotos syndrome	GUncertain significance
Select item 1362153	NM_022455.5(NSD1):c.113A>G (p.Asn38Ser)	NSD1 (N38S)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome	GUncertain significance
Select item 1945563	NM_022455.5(NSD1):c.141T>C (p.Thr47=)	NSD1	Single nucleotide variant (synonymous variant +1 more)	Sotos syndrome	GLikely benign
Select item 159265	NM_022455.5(NSD1):c.142A>G (p.Met48Val)	NSD1 (M48V)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome	GConflicting classifications of pathogenicity
Select item 859893	NM_022455.5(NSD1):c.145C>T (p.Gln49Ter)	NSD1 (Q49*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GUncertain significance
Select item 1939734	NM_022455.5(NSD1):c.151T>C (p.Ser51Pro)	NSD1 (S51P)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome	GLikely benign
Select item 2104048	NM_022455.5(NSD1):c.199T>A (p.Ser67Thr)	NSD1 (S67T)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome	GUncertain significance
Select item 1372217	NM_022455.5(NSD1):c.209T>G (p.Ile70Ser)	NSD1 (I70S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1618913	NM_022455.5(NSD1):c.222A>G (p.Arg74=)	NSD1	Single nucleotide variant (intron variant +1 more)	Sotos syndrome	GLikely benign
Select item 454045	NM_022455.5(NSD1):c.241A>G (p.Met81Val)	NSD1 (M81V)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2111666	NM_022455.5(NSD1):c.252A>G (p.Val84=)	NSD1	Single nucleotide variant (synonymous variant +1 more)	Sotos syndrome	GLikely benign
Select item 1913455	NM_022455.5(NSD1):c.290T>A (p.Phe97Tyr)	NSD1 (F97Y)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome	GLikely benign
Select item 1430262	NM_022455.5(NSD1):c.331A>G (p.Ile111Val)	NSD1 (I111V)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome +1 more	GLikely benign
Select item 1215377	NM_022455.5(NSD1):c.334G>T (p.Val112Phe)	NSD1 (V112F)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome +1 more	GUncertain significance
Select item 159308	NM_022455.5(NSD1):c.339C>T (p.Cys113=)	NSD1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 1450790	NM_022455.5(NSD1):c.340A>G (p.Thr114Ala)	NSD1 (T114A)	Single nucleotide variant (missense variant +1 more)	NSD1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1431155	NM_022455.5(NSD1):c.340A>C (p.Thr114Pro)	NSD1 (T114P)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome	GUncertain significance
Select item 159309	NM_022455.5(NSD1):c.352C>G (p.Pro118Ala)	NSD1 (P118A)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 2005671	NM_022455.5(NSD1):c.353C>T (p.Pro118Leu)	NSD1 (P118L)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome	GUncertain significance
Select item 159317	NM_022455.5(NSD1):c.395G>C (p.Cys132Ser)	NSD1 (C132S)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 2074972	NM_022455.5(NSD1):c.405C>T (p.Ser135=)	NSD1	Single nucleotide variant (synonymous variant +1 more)	Sotos syndrome	GLikely benign
Select item 1738481	NM_022455.5(NSD1):c.417G>A (p.Gln139=)	NSD1	Single nucleotide variant (synonymous variant +1 more)	Sotos syndrome +1 more	GConflicting classifications of pathogenicity
Select item 589178	NM_022455.5(NSD1):c.436A>G (p.Ile146Val)	NSD1 (I146V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2174793	NM_022455.5(NSD1):c.451C>T (p.Leu151=)	NSD1	Single nucleotide variant (synonymous variant +1 more)	Sotos syndrome	GLikely benign
Select item 699290	NM_022455.5(NSD1):c.454C>T (p.His152Tyr)	NSD1 (H152Y)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome	GLikely benign
Select item 261588	NM_022455.5(NSD1):c.480C>T (p.Asp160=)	NSD1	Single nucleotide variant (synonymous variant +1 more)	Sotos syndrome +3 more	GBenign/Likely benign
Select item 2189224	NM_022455.5(NSD1):c.487G>A (p.Asp163Asn)	NSD1 (D163N)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome	GLikely benign
Select item 524701	NM_022455.5(NSD1):c.524C>T (p.Thr175Ile)	NSD1 (T175I)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome	GUncertain significance
Select item 1934697	NM_022455.5(NSD1):c.529G>A (p.Asp177Asn)	NSD1 (D177N)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome	GUncertain significance
Select item 713308	NM_022455.5(NSD1):c.530A>G (p.Asp177Gly)	NSD1 (D177G)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome	GLikely benign
Select item 524729	NM_022455.5(NSD1):c.549C>T (p.Ile183=)	NSD1	Single nucleotide variant (synonymous variant +1 more)	Sotos syndrome	GLikely benign
Select item 966579	NM_022455.5(NSD1):c.557A>T (p.Glu186Val)	NSD1 (E186V)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome	GUncertain significance
Select item 1902395	NM_022455.5(NSD1):c.560C>G (p.Thr187Ser)	NSD1 (T187S)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome	GLikely benign
Select item 1586874	NM_022455.5(NSD1):c.567C>T (p.Thr189=)	NSD1	Single nucleotide variant (synonymous variant +1 more)	Sotos syndrome	GLikely benign
Select item 2048742	NM_022455.5(NSD1):c.569A>T (p.Asn190Ile)	NSD1 (N190I)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome	GUncertain significance
Select item 524742	NM_022455.5(NSD1):c.639C>T (p.Ser213=)	NSD1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1424723	NM_022455.5(NSD1):c.641C>T (p.Thr214Ile)	NSD1 (T214I)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome	GUncertain significance
Select item 1507977	NM_022455.5(NSD1):c.649_650del (p.Glu216_Ser217insTer)	NSD1	Microsatellite (frameshift variant +2 more)	Sotos syndrome +1 more	GUncertain significance
Select item 1308477	NM_022455.5(NSD1):c.653G>T (p.Arg218Ile)	NSD1 (R218I)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome +1 more	GUncertain significance
Select item 966321	NM_022455.5(NSD1):c.658_666del (p.Gly220_Val222del)	NSD1	Deletion (inframe_deletion +2 more)	Sotos syndrome	GUncertain significance
Select item 1719540	NM_022455.5(NSD1):c.661G>T (p.Ala221Ser)	NSD1 (A221S)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome	GUncertain significance
Select item 1479687	NM_022455.5(NSD1):c.670T>C (p.Ser224Pro)	NSD1 (S224P)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome	GUncertain significance
Select item 1147356	NM_022455.5(NSD1):c.672G>A (p.Ser224=)	NSD1	Single nucleotide variant (synonymous variant +1 more)	Sotos syndrome	GLikely benign
Select item 587866	NM_022455.5(NSD1):c.682C>G (p.Pro228Ala)	NSD1 (P228A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 235296	NM_022455.5(NSD1):c.708G>C (p.Gln236His)	NSD1 (Q236H)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome +1 more	GBenign/Likely benign
Select item 2200874	NM_022455.5(NSD1):c.717G>A (p.Lys239=)	NSD1	Single nucleotide variant (synonymous variant +1 more)	Sotos syndrome	GLikely benign
Select item 96076	NM_022455.5(NSD1):c.750AGC[1] (p.Ala252del)	NSD1 (A252del)	Microsatellite (inframe_indel +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2194448	NM_022455.5(NSD1):c.757C>G (p.Leu253Val)	NSD1 (L253V)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome	GLikely benign
Select item 159441	NM_022455.5(NSD1):c.760C>T (p.Leu254Phe)	NSD1	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 1038565	NM_022455.5(NSD1):c.788_789del (p.Thr263fs)	NSD1 (T263fs)	Microsatellite (frameshift variant +1 more)	Sotos syndrome	GConflicting classifications of pathogenicity
Select item 1619579	NM_022455.5(NSD1):c.786C>T (p.Asp262=)	NSD1	Single nucleotide variant (synonymous variant +1 more)	Sotos syndrome	GLikely benign
Select item 657851	NM_022455.5(NSD1):c.793A>G (p.Ile265Val)	NSD1 (I265V)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome	GConflicting classifications of pathogenicity
Select item 452876	NM_022455.5(NSD1):c.805G>A (p.Glu269Lys)	NSD1 (E269K)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome +1 more	GUncertain significance
Select item 524694	NM_022455.5(NSD1):c.816C>A (p.Asn272Lys)	NSD1 (N272K)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome	GConflicting classifications of pathogenicity
Select item 407362	NM_022455.5(NSD1):c.880_881del (p.Glu294fs)	NSD1 (E25fs +1 more)	Deletion (frameshift variant)	Beckwith-Wiedemann syndrome +1 more	GPathogenic
Select item 588955	NM_022455.5(NSD1):c.887C>G (p.Pro296Arg)	NSD1 (P296R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1500249	NM_022455.5(NSD1):c.890G>C (p.Gly297Ala)	NSD1 (G28A +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 1967446	NM_022455.5(NSD1):c.897A>T (p.Ser299=)	NSD1	Single nucleotide variant (synonymous variant)	Sotos syndrome	GLikely benign
Select item 2059991	NM_022455.5(NSD1):c.922C>G (p.Pro308Ala)	NSD1 (P168A +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 1115637	NM_022455.5(NSD1):c.928-8G>C	NSD1	Single nucleotide variant (intron variant)	Sotos syndrome	GLikely benign
Select item 1989504	NM_022455.5(NSD1):c.934C>T (p.Pro312Ser)	NSD1 (P312S +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome +1 more	GUncertain significance
Select item 2197629	NM_022455.5(NSD1):c.951G>A (p.Thr317=)	NSD1	Single nucleotide variant (synonymous variant)	Sotos syndrome	GLikely benign
Select item 2158889	NM_022455.5(NSD1):c.952C>T (p.Pro318Ser)	NSD1 (P178S +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome +1 more	GConflicting classifications of pathogenicity
Select item 524691	NM_022455.5(NSD1):c.983G>A (p.Trp328Ter)	NSD1 (W328* +3 more)	Single nucleotide variant (nonsense)	Sotos syndrome	GPathogenic
Select item 2159382	NM_022455.5(NSD1):c.1035G>A (p.Pro345=)	NSD1	Single nucleotide variant (synonymous variant)	Sotos syndrome	GLikely benign
Select item 389959	NM_022455.5(NSD1):c.1064-10C>T	NSD1	Single nucleotide variant (intron variant)	Sotos syndrome +1 more	GLikely benign
Select item 2174673	NM_022455.5(NSD1):c.1064-9C>T	NSD1	Single nucleotide variant (intron variant)	Sotos syndrome	GLikely benign
Select item 2061366	NM_022455.5(NSD1):c.1064-6A>T	NSD1	Single nucleotide variant (intron variant)	Sotos syndrome	GLikely benign
Select item 588408	NM_022455.5(NSD1):c.1064-5C>A	NSD1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1699361	NM_022455.5(NSD1):c.1064-2A>G	NSD1	Single nucleotide variant (splice acceptor variant)	Sotos syndrome	GPathogenic/Likely pathogenic
Select item 2062543	NM_022455.5(NSD1):c.1078C>G (p.Pro360Ala)	NSD1 (P109A +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 1187636	NM_022455.5(NSD1):c.1095C>T (p.Tyr365=)	NSD1	Single nucleotide variant (synonymous variant)	Sotos syndrome +1 more	GBenign/Likely benign
Select item 1035119	NM_022455.5(NSD1):c.1129T>C (p.Trp377Arg)	NSD1 (W377R +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome +1 more	GUncertain significance
Select item 159260	NM_022455.5(NSD1):c.1149C>T (p.Ile383=)	NSD1	Single nucleotide variant (synonymous variant)	Sotos syndrome +3 more	GConflicting classifications of pathogenicity
Select item 524712	NM_022455.5(NSD1):c.1159G>C (p.Glu387Gln)	NSD1 (E387Q +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 1452878	NM_022455.5(NSD1):c.1163G>T (p.Gly388Val)	NSD1 (G119V +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GPathogenic
Select item 2003622	NM_022455.5(NSD1):c.1171C>G (p.Gln391Glu)	NSD1 (Q122E +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 699563	NM_022455.5(NSD1):c.1173A>G (p.Gln391=)	NSD1	Single nucleotide variant (synonymous variant)	Sotos syndrome	GLikely benign
Select item 588374	NM_022455.5(NSD1):c.1176C>T (p.Phe392=)	NSD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1543084	NM_022455.5(NSD1):c.1230G>A (p.Arg410=)	NSD1	Single nucleotide variant (synonymous variant)	Sotos syndrome	GLikely benign
Select item 2067171	NM_022455.5(NSD1):c.1236+9C>T	NSD1	Single nucleotide variant (intron variant)	Sotos syndrome	GLikely benign
Select item 261579	NM_022455.5(NSD1):c.1236+17G>A	NSD1	Single nucleotide variant (intron variant)	Sotos syndrome +1 more	GLikely benign
Select item 698170	NM_022455.5(NSD1):c.1252T>C (p.Leu418=)	NSD1	Single nucleotide variant (synonymous variant)	Sotos syndrome	GLikely benign
Select item 953666	NM_022455.5(NSD1):c.1253T>A (p.Leu418Ter)	NSD1 (L418* +4 more)	Single nucleotide variant (nonsense)	Sotos syndrome	GPathogenic
Select item 959656	NM_022455.5(NSD1):c.1288C>G (p.Gln430Glu)	NSD1 (Q161E +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 700674	NM_022455.5(NSD1):c.1290G>A (p.Gln430=)	NSD1	Single nucleotide variant (synonymous variant)	Sotos syndrome +1 more	GLikely benign
Select item 2082004	NM_022455.5(NSD1):c.1299del (p.Lys435fs)	NSD1 (K435fs +1 more)	Deletion (frameshift variant)	Sotos syndrome	GPathogenic
Select item 261581	NM_022455.5(NSD1):c.1317C>T (p.Asn439=)	NSD1	Single nucleotide variant (synonymous variant)	Sotos syndrome +2 more	GBenign
Select item 1202491	NM_022455.5(NSD1):c.1318C>T (p.Arg440Ter)	NSD1 (R171* +4 more)	Single nucleotide variant (nonsense)	Sotos syndrome +1 more	GPathogenic
Select item 1715593	NM_022455.5(NSD1):c.1325G>C (p.Cys442Ser)	NSD1 (C151S +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 950329	NM_022455.5(NSD1):c.1333G>C (p.Gly445Arg)	NSD1 (G176R +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 1319647	NM_022455.5(NSD1):c.1338A>T (p.Ser446=)	NSD1	Single nucleotide variant (synonymous variant)	Sotos syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1520220	NM_022455.5(NSD1):c.1363A>G (p.Met455Val)	NSD1 (M186V +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 96034	NM_022455.5(NSD1):c.1364T>C (p.Met455Thr)	NSD1 (M186T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity

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