C0175695[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1028264	NM_022455.5(NSD1):c.56C>T (p.Pro19Leu)	NSD1 (P19L)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
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 1341328	NM_022455.5(NSD1):c.1382C>T (p.Thr461Ile)	NSD1 (T192I +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 1028262	NM_022455.5(NSD1):c.2051T>G (p.Ile684Arg)	NSD1 (I415R +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 378304	NM_022455.5(NSD1):c.2362C>T (p.Arg788Ter)	NSD1 (R788* +4 more)	Single nucleotide variant (nonsense)	Sotos syndrome +2 more	GPathogenic
Select item 998324	NM_022455.5(NSD1):c.3404C>T (p.Pro1135Leu)	NSD1 (P1135L +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 1327095	NM_022455.5(NSD1):c.3418G>A (p.Val1140Ile)	NSD1 (V1140I +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 1033596	NM_022455.5(NSD1):c.3965G>C (p.Arg1322Pro)	NSD1 (R1322P +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GConflicting classifications of pathogenicity
Select item 3237461	NM_022455.5(NSD1):c.4096_4097dup (p.Glu1367fs)	NSD1 (E1076fs +3 more)	Duplication (frameshift variant)	Sotos syndrome	GPathogenic
Select item 561069	NM_022455.5(NSD1):c.4302+1G>A	NSD1	Single nucleotide variant (splice donor variant)	Sotos syndrome	GPathogenic
Select item 1028263	NM_022455.5(NSD1):c.4378+1G>T	NSD1	Single nucleotide variant (splice donor variant)	Sotos syndrome	GPathogenic
Select item 159358	NM_022455.5(NSD1):c.5098C>T (p.Arg1700Ter)	NSD1 (R1700* +5 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 159369	NM_022455.5(NSD1):c.5431C>T (p.Arg1811Ter)	LOC126807619, NSD1 (R1811* +5 more)	Single nucleotide variant (nonsense)	Sotos syndrome +1 more	GPathogenic
Select item 2582645	NM_022455.5(NSD1):c.5710C>T (p.Pro1904Ser)	NSD1 (P1613S +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GLikely pathogenic
Select item 561070	NM_022455.5(NSD1):c.5724del (p.Ser1909fs)	NSD1 (S1640fs +1 more)	Deletion (frameshift variant)	Sotos syndrome	GPathogenic
Select item 2582330	NM_022455.5(NSD1):c.5907_5908insA (p.Glu1970fs)	NSD1 (E1679fs +4 more)	Insertion (frameshift variant)	Sotos syndrome	GLikely pathogenic
Select item 209175	NM_022455.5(NSD1):c.5950C>T (p.Arg1984Ter)	NSD1 (R1984* +5 more)	Single nucleotide variant (nonsense)	Sotos syndrome +1 more	GPathogenic
Select item 2441643	NM_022455.5(NSD1):c.6029G>T (p.Gly2010Val)	NSD1 (G1719V +5 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GLikely pathogenic
Select item 1327097	NM_022455.5(NSD1):c.6632A>G (p.Asn2211Ser)	NSD1 (N1942S +6 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 998325	NM_022455.5(NSD1):c.7159C>G (p.Pro2387Ala)	NSD1 (P2118A +6 more)	Single nucleotide variant (missense variant)	Sotos syndrome +1 more	GUncertain significance
Select item 1327059	NM_022455.5(NSD1):c.7648G>A (p.Glu2550Lys)	NSD1 (E2281K +6 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1033597	NM_022455.5(NSD1):c.7922C>T (p.Ala2641Val)	NSD1 (A2641V +6 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 209176	NM_022455.5(NSD1):c.7966C>T (p.Gln2656Ter)	NSD1 (Q2656* +6 more)	Single nucleotide variant (nonsense)	Sotos syndrome	GPathogenic

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Items: 23