"Eurofins Ntd Llc (ga)"[submitter] AND "NHS"[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 193516	NM_001291867.2(NHS):c.49C>T (p.Arg17Trp)	NHS (R17W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 193514	NM_001291867.2(NHS):c.147C>T (p.Val49=)	NHS	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 167351	NM_001291867.2(NHS):c.152C>T (p.Ala51Val)	NHS (A51V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 96635	NM_001291867.2(NHS):c.207GCC[3] (p.Pro73del)	NHS (P73del)	Microsatellite (inframe_deletion)	Nance-Horan syndrome +2 more	GBenign/Likely benign
Select item 96634	NM_001291867.2(NHS):c.211C>T (p.Pro71Ser)	NHS (P71S)	Single nucleotide variant (missense variant)	Nance-Horan syndrome +3 more	GBenign/Likely benign
Select item 96638	NM_001291867.2(NHS):c.302_337dup (p.Glu101_Ala112dup)	NHS	Duplication (inframe_insertion)	Nance-Horan syndrome +2 more	GConflicting classifications of pathogenicity
Select item 96641	NM_001291867.2(NHS):c.400del (p.Arg134fs)	NHS (R134fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 193515	NM_001291867.2(NHS):c.401G>A (p.Arg134His)	NHS (R134H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 96643	NM_001291867.2(NHS):c.513C>T (p.Leu171=)	NHS	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 167352	NM_001291867.2(NHS):c.565+1G>T	NHS	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 193513	NM_001291867.2(NHS):c.565+7A>C	NHS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 96644	NM_001291867.2(NHS):c.566-10dup	NHS	Duplication (intron variant)	Cataract 40 +3 more	GBenign/Likely benign
Select item 167353	NM_001291867.2(NHS):c.618G>A (p.Pro206=)	NHS	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 195435	NM_001291867.2(NHS):c.660A>C (p.Pro220=)	NHS	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 195433	NM_001291867.2(NHS):c.666C>T (p.Cys222=)	NHS	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 96645	NM_001291867.2(NHS):c.765C>G (p.Pro255=)	NHS	Single nucleotide variant (synonymous variant)	Nance-Horan syndrome +2 more	GConflicting classifications of pathogenicity
Select item 283559	NM_001291867.2(NHS):c.827A>G (p.Glu276Gly)	NHS (E276G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 196598	NM_001291867.2(NHS):c.828G>A (p.Glu276=)	NHS	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 96646	NM_001291867.2(NHS):c.1016G>A (p.Trp339Ter)	NHS (W318* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 167354	NM_001291867.2(NHS):c.1108G>A (p.Gly370Arg)	NHS (G349R +3 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome +1 more	GUncertain significance
Select item 167355	NM_001291867.2(NHS):c.1143C>T (p.Cys381=)	NHS	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 167356	NM_001291867.2(NHS):c.1155T>C (p.His385=)	NHS	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 208770	NM_001291867.2(NHS):c.1175G>A (p.Arg392Gln)	NHS (R371Q +3 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome +2 more	GConflicting classifications of pathogenicity
Select item 11025	NM_001291867.2(NHS):c.1180C>T (p.Arg394Ter)	NHS (R217* +3 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 198291	NM_001291867.2(NHS):c.1327G>A (p.Gly443Arg)	NHS (G422R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 198288	NM_001291867.2(NHS):c.1596G>A (p.Glu532=)	NHS	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 198292	NM_001291867.2(NHS):c.1603G>A (p.Val535Met)	NHS (V514M +3 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome +2 more	GConflicting classifications of pathogenicity
Select item 96632	NM_001291867.2(NHS):c.1714C>T (p.Pro572Ser)	NHS (P551S +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 96633	NM_001291867.2(NHS):c.1965T>G (p.Pro655=)	NHS	Single nucleotide variant (synonymous variant)	Nance-Horan syndrome +2 more	GBenign/Likely benign
Select item 500721	NM_001291867.2(NHS):c.1998G>A (p.Glu666=)	NHS	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 198290	NM_001291867.2(NHS):c.2234C>T (p.Ala745Val)	NHS (A724V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 96636	NM_001291867.2(NHS):c.2330T>C (p.Phe777Ser)	NHS (F756S +3 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome +2 more	GBenign/Likely benign
Select item 96637	NM_001291867.2(NHS):c.2348G>A (p.Gly783Glu)	NHS (G762E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 129769	NM_001291867.2(NHS):c.2593G>A (p.Ala865Thr)	NHS (A844T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 167357	NM_001291867.2(NHS):c.2633del (p.Gly878fs)	NHS (G878fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 129773	NM_001291867.2(NHS):c.2831A>T (p.His944Leu)	NHS (H923L +3 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome +3 more	GBenign
Select item 597766	NM_001291867.2(NHS):c.2921T>C (p.Val974Ala)	NHS (V953A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 198294	NM_001291867.2(NHS):c.3310C>T (p.His1104Tyr)	NHS (H1083Y +3 more)	Single nucleotide variant (missense variant)	Cataract 40 +3 more	GBenign/Likely benign
Select item 198289	NM_001291867.2(NHS):c.3374C>T (p.Ser1125Leu)	NHS (S1104L +3 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome +2 more	GConflicting classifications of pathogenicity
Select item 198293	NM_001291867.2(NHS):c.3408G>A (p.Thr1136=)	NHS	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 287144	NM_001291867.2(NHS):c.3515C>T (p.Thr1172Met)	NHS (T1151M +3 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome +1 more	GUncertain significance
Select item 96639	NM_001291867.2(NHS):c.3545C>T (p.Pro1182Leu)	NHS (P1161L +3 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome +3 more	GBenign
Select item 281716	NM_001291867.2(NHS):c.3891C>T (p.Asp1297=)	NHS	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 96640	NM_001291867.2(NHS):c.3929G>T (p.Gly1310Val)	NHS (G1289V +3 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome +2 more	GBenign/Likely benign
Select item 129776	NM_001291867.2(NHS):c.4018T>C (p.Phe1340Leu)	NHS (F1319L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign
Select item 96642	NM_001291867.2(NHS):c.4428_4430dup (p.Ser1480dup)	NHS	Duplication (inframe_insertion)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 167347	NM_001291867.2(NHS):c.4666T>A (p.Ser1556Thr)	NHS (S1535T +3 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome +2 more	GBenign
Select item 198926	NM_001291867.2(NHS):c.4783A>C (p.Thr1595Pro)	NHS (T1574P +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 129777	NM_001291867.2(NHS):c.4832G>C (p.Ser1611Thr)	NHS (S1590T +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 198925	NM_001291867.2(NHS):c.4860G>C (p.Arg1620=)	NHS	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 50