"PreventionGenetics, part of Exact Sciences"[submitter] AND "NHS"[gene - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1204372	NM_001291867.2(NHS):c.127C>G (p.Arg43Gly)	NHS (R43G)	Single nucleotide variant (missense variant)	NHS-related disorder +1 more	GUncertain significance
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 3031110	NM_001291867.2(NHS):c.243_244del (p.Gln82fs)	NHS (Q82fs)	Deletion (frameshift variant)	NHS-related disorder	GLikely pathogenic
Select item 1165696	NM_001291867.2(NHS):c.322G>A (p.Glu108Lys)	NHS (E108K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 588878	NM_001291867.2(NHS):c.333GGC[7] (p.Ala117dup)	NHS	Microsatellite (inframe_insertion)	Nance-Horan syndrome +3 more	GLikely benign
Select item 96644	NM_001291867.2(NHS):c.566-10dup	NHS	Duplication (intron variant)	Cataract 40 +3 more	GBenign/Likely benign
Select item 2705380	NM_001291867.2(NHS):c.687C>T (p.His229=)	NHS	Single nucleotide variant (synonymous variant)	NHS-related disorder +1 more	GBenign/Likely benign
Select item 1769729	NM_001291867.2(NHS):c.1089T>C (p.Ile363=)	NHS	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 930367	NM_001291867.2(NHS):c.1228C>G (p.Gln410Glu)	NHS (Q212E +3 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2900547	NM_001291867.2(NHS):c.1246G>C (p.Asp416His)	NHS (D239H +3 more)	Single nucleotide variant (missense variant)	NHS-related disorder +1 more	GLikely benign
Select item 589046	NM_001291867.2(NHS):c.1469G>T (p.Gly490Val)	NHS (G469V +3 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome +2 more	GLikely benign
Select item 3050218	NM_001291867.2(NHS):c.1500C>T (p.Ser500=)	NHS	Single nucleotide variant (synonymous variant)	NHS-related disorder	GLikely benign
Select item 734461	NM_001291867.2(NHS):c.1501C>T (p.Arg501Cys)	NHS (R501C +3 more)	Single nucleotide variant (missense variant)	NHS-related disorder +1 more	GBenign/Likely benign
Select item 463038	NM_001291867.2(NHS):c.1760T>C (p.Met587Thr)	NHS (M566T +3 more)	Single nucleotide variant (missense variant)	NHS-related disorder +3 more	GBenign/Likely benign
Select item 1779243	NM_001291867.2(NHS):c.1806G>A (p.Thr602=)	NHS	Single nucleotide variant (synonymous variant)	NHS-related disorder +2 more	GBenign/Likely benign
Select item 588310	NM_001291867.2(NHS):c.2093G>A (p.Arg698Gln)	NHS (R677Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 2061363	NM_001291867.2(NHS):c.2096C>T (p.Ala699Val)	NHS (A501V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
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 3032739	NM_001291867.2(NHS):c.2496C>A (p.His832Gln)	NHS (H634Q +3 more)	Single nucleotide variant (missense variant)	NHS-related disorder	GLikely benign
Select item 3048929	NM_001291867.2(NHS):c.2651G>A (p.Ser884Asn)	NHS (S686N +3 more)	Single nucleotide variant (missense variant)	NHS-related disorder	GUncertain significance
Select item 1167600	NM_001291867.2(NHS):c.2791G>T (p.Asp931Tyr)	NHS (D733Y +3 more)	Single nucleotide variant (missense variant)	NHS-related disorder +2 more	GBenign/Likely benign
Select item 1924941	NM_001291867.2(NHS):c.3215C>T (p.Thr1072Ile)	NHS (T1051I +3 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome +1 more	GBenign/Likely benign
Select item 588843	NM_001291867.2(NHS):c.3785C>T (p.Thr1262Met)	NHS (T1241M +3 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome +2 more	GConflicting classifications of pathogenicity
Select item 435991	NM_001291867.2(NHS):c.3786G>A (p.Thr1262=)	NHS	Single nucleotide variant (synonymous variant)	NHS-related disorder +2 more	GLikely benign
Select item 2868446	NM_001291867.2(NHS):c.3792C>A (p.Thr1264=)	NHS	Single nucleotide variant (synonymous variant)	Nance-Horan syndrome +1 more	GLikely benign
Select item 2636770	NM_001291867.2(NHS):c.3798C>G (p.Asn1266Lys)	NHS (N1068K +3 more)	Single nucleotide variant (missense variant)	NHS-related disorder	GUncertain significance
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)	Nance-Horan syndrome +3 more	GBenign
Select item 211599	NM_001291867.2(NHS):c.4051G>A (p.Asp1351Asn)	NHS (D1330N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 710632	NM_001291867.2(NHS):c.4436G>A (p.Ser1479Asn)	NHS (S1302N +3 more)	Single nucleotide variant (missense variant)	NHS-related disorder +3 more	GBenign/Likely benign

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Items: 30