"Ambry Genetics"[submitter] AND "NHS"[gene] - ClinVar - NCBI

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	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 1753296	NM_001291867.2(NHS):c.63C>A (p.Pro21=)	NHS	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1765785	NM_001291867.2(NHS):c.90C>A (p.Gly30=)	NHS	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2303703	NM_001291867.2(NHS):c.94G>C (p.Ala32Pro)	NHS (A32P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1795963	NM_001291867.2(NHS):c.100C>A (p.Pro34Thr)	NHS (P34T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 167351	NM_001291867.2(NHS):c.152C>T (p.Ala51Val)	NHS (A51V)	Single nucleotide variant (missense variant)	Nance-Horan syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2519362	NM_001291867.2(NHS):c.176G>A (p.Arg59His)	NHS (R59H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1782227	NM_001291867.2(NHS):c.189A>G (p.Ala63=)	NHS	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 714438	NM_001291867.2(NHS):c.204A>G (p.Pro68=)	NHS	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
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 3199811	NM_001291867.2(NHS):c.256G>A (p.Gly86Arg)	NHS (G86R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1798996	NM_001291867.2(NHS):c.302A>C (p.Glu101Ala)	NHS (E101A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 211598	NM_001291867.2(NHS):c.310_345del (p.Pro104_Ala115del)	NHS	Deletion (inframe_deletion)	not specified +2 more	GBenign
Select item 2302838	NM_001291867.2(NHS):c.305C>T (p.Ala102Val)	NHS (A102V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1165696	NM_001291867.2(NHS):c.322G>A (p.Glu108Lys)	NHS (E108K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1731557	NM_001291867.2(NHS):c.333GGC[8] (p.Ala117_Val118insAlaAla)	NHS	Microsatellite (inframe_insertion)	Nance-Horan syndrome +1 more	GUncertain significance
Select item 588878	NM_001291867.2(NHS):c.333GGC[7] (p.Ala117dup)	NHS	Microsatellite (inframe_insertion)	Inborn genetic diseases +2 more	GLikely benign
Select item 2620241	NM_001291867.2(NHS):c.332C>T (p.Ser111Leu)	NHS (S111L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 588421	NM_001291867.2(NHS):c.350C>T (p.Ala117Val)	NHS (A117V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260003	NM_001291867.2(NHS):c.353T>C (p.Val118Ala)	NHS (V118A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1735888	NM_001291867.2(NHS):c.388G>A (p.Ala130Thr)	NHS (A130T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1738967	NM_001291867.2(NHS):c.423C>G (p.Asp141Glu)	NHS (D141E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325398	NM_001291867.2(NHS):c.466G>C (p.Asp156His)	NHS (D156H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1193580	NM_001291867.2(NHS):c.484C>T (p.Arg162Cys)	NHS (R162C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 96643	NM_001291867.2(NHS):c.513C>T (p.Leu171=)	NHS	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1745974	NM_001291867.2(NHS):c.519C>T (p.Gly173=)	NHS	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GUncertain significance
Select item 2555605	NM_001291867.2(NHS):c.546C>A (p.Asp182Glu)	NHS (D182E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1030452	NM_001291867.2(NHS):c.546C>G (p.Asp182Glu)	NHS (D182E)	Single nucleotide variant (missense variant)	Cataract 40 +1 more	GUncertain significance
Select item 3199817	NM_001291867.2(NHS):c.601G>A (p.Val201Met)	NHS (V201M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1751724	NM_001291867.2(NHS):c.611G>A (p.Arg204His)	NHS (R27H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 167353	NM_001291867.2(NHS):c.618G>A (p.Pro206=)	NHS	Single nucleotide variant (synonymous variant)	Nance-Horan syndrome +2 more	GConflicting classifications of pathogenicity
Select item 3199818	NM_001291867.2(NHS):c.646C>G (p.Pro216Ala)	NHS (P216A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 1415422	NM_001291867.2(NHS):c.692G>A (p.Arg231Gln)	NHS (R54Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 435989	NM_001291867.2(NHS):c.739C>T (p.Arg247Cys)	NHS (R247C +1 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome +2 more	GLikely benign
Select item 2237426	NM_001291867.2(NHS):c.754G>A (p.Ala252Thr)	NHS (A75T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 96645	NM_001291867.2(NHS):c.765C>G (p.Pro255=)	NHS	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 129778	NM_001291867.2(NHS):c.766C>G (p.Leu256Val)	NHS (L256V +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 2261013	NM_001291867.2(NHS):c.842A>G (p.His281Arg)	NHS (H281R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1763813	NM_001291867.2(NHS):c.917C>T (p.Ser306Phe)	NHS (S129F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1765530	NM_001291867.2(NHS):c.965C>T (p.Pro322Leu)	NHS (P124L +3 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome +1 more	GUncertain significance
Select item 733642	NM_001291867.2(NHS):c.966G>A (p.Pro322=)	NHS	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2288177	NM_001291867.2(NHS):c.1040C>T (p.Thr347Met)	NHS (T149M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1769729	NM_001291867.2(NHS):c.1089T>C (p.Ile363=)	NHS	Single nucleotide variant (synonymous variant)	Nance-Horan syndrome +2 more	GBenign/Likely benign
Select item 590229	NM_001291867.2(NHS):c.1174C>T (p.Arg392Trp)	NHS (R371W +3 more)	Single nucleotide variant (missense variant)	History of neurodevelopmental disorder +1 more	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 930367	NM_001291867.2(NHS):c.1228C>G (p.Gln410Glu)	NHS (Q212E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 520943	NM_001291867.2(NHS):c.1231C>T (p.Gln411Ter)	NHS (Q390* +3 more)	Single nucleotide variant (nonsense)	Nance-Horan syndrome +1 more	GPathogenic
Select item 198291	NM_001291867.2(NHS):c.1327G>A (p.Gly443Arg)	NHS (G422R +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1336648	NM_001291867.2(NHS):c.1415T>C (p.Ile472Thr)	NHS (I274T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 589046	NM_001291867.2(NHS):c.1469G>T (p.Gly490Val)	NHS (G469V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1955030	NM_001291867.2(NHS):c.1471G>A (p.Asp491Asn)	NHS (D470N +3 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome +2 more	GBenign/Likely benign
Select item 2198852	NM_001291867.2(NHS):c.1486C>A (p.Pro496Thr)	NHS (P298T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
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 2217081	NM_001291867.2(NHS):c.1630G>T (p.Asp544Tyr)	NHS (D523Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1775786	NM_001291867.2(NHS):c.1648A>G (p.Ser550Gly)	NHS (S550G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2231165	NM_001291867.2(NHS):c.1691C>T (p.Ala564Val)	NHS (A543V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 96632	NM_001291867.2(NHS):c.1714C>T (p.Pro572Ser)	NHS (P551S +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 589579	NM_001291867.2(NHS):c.1723A>G (p.Lys575Glu)	NHS (K554E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1695285	NM_001291867.2(NHS):c.1748G>A (p.Arg583His)	NHS (R385H +3 more)	Single nucleotide variant (missense variant)	not provided +2 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)	Nance-Horan syndrome +2 more	GBenign/Likely benign
Select item 1779243	NM_001291867.2(NHS):c.1806G>A (p.Thr602=)	NHS	Single nucleotide variant (synonymous variant)	Nance-Horan syndrome +1 more	GBenign/Likely benign
Select item 2202373	NM_001291867.2(NHS):c.1835C>T (p.Thr612Met)	NHS (T591M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2252952	NM_001291867.2(NHS):c.1941A>C (p.Glu647Asp)	NHS (E626D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 588310	NM_001291867.2(NHS):c.2093G>A (p.Arg698Gln)	NHS (R677Q +3 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome +1 more	GBenign
Select item 2061363	NM_001291867.2(NHS):c.2096C>T (p.Ala699Val)	NHS (A501V +3 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome +1 more	GBenign/Likely benign
Select item 1169206	NM_001291867.2(NHS):c.2119G>T (p.Ala707Ser)	NHS (A509S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign
Select item 161851	NM_001291867.2(NHS):c.2204G>A (p.Arg735His)	NHS (R714H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2047522	NM_001291867.2(NHS):c.2225G>A (p.Arg742His)	NHS (R544H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3199809	NM_001291867.2(NHS):c.2342C>T (p.Thr781Met)	NHS (T583M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1789924	NM_001291867.2(NHS):c.2409C>T (p.His803=)	NHS	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1791966	NM_001291867.2(NHS):c.2547G>C (p.Pro849=)	NHS	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1792632	NM_001291867.2(NHS):c.2592C>T (p.Asn864=)	NHS	Single nucleotide variant (synonymous variant)	Nance-Horan syndrome +1 more	GBenign/Likely benign
Select item 129769	NM_001291867.2(NHS):c.2593G>A (p.Ala865Thr)	NHS (A844T +3 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome +2 more	GBenign/Likely benign
Select item 3199810	NM_001291867.2(NHS):c.2614G>A (p.Glu872Lys)	NHS (E872K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223465	NM_001291867.2(NHS):c.2753G>A (p.Ser918Asn)	NHS (S918N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1167600	NM_001291867.2(NHS):c.2791G>T (p.Asp931Tyr)	NHS (D733Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 129773	NM_001291867.2(NHS):c.2831A>T (p.His944Leu)	NHS (H923L +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 588929	NM_001291867.2(NHS):c.2905G>A (p.Ala969Thr)	NHS (A948T +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 531901	NM_001291867.2(NHS):c.2909C>T (p.Thr970Met)	NHS (T949M +3 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2050785	NM_001291867.2(NHS):c.2932A>G (p.Ile978Val)	NHS (I957V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 588982	NM_001291867.2(NHS):c.3057A>G (p.Ala1019=)	NHS	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 3199812	NM_001291867.2(NHS):c.3119T>C (p.Phe1040Ser)	NHS (F1040S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 588588	NM_001291867.2(NHS):c.3157A>G (p.Lys1053Glu)	NHS (K1032E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 129774	NM_001291867.2(NHS):c.3201T>C (p.Ser1067=)	NHS	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign
Select item 129775	NM_001291867.2(NHS):c.3204A>G (p.Leu1068=)	NHS	Single nucleotide variant (synonymous variant)	Nance-Horan syndrome +2 more	GBenign
Select item 520960	NM_001291867.2(NHS):c.3245del (p.Pro1082fs)	NHS (P1082fs +3 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 435995	NM_001291867.2(NHS):c.3262C>A (p.His1088Asn)	NHS (H1067N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1729003	NM_001291867.2(NHS):c.3280C>T (p.Leu1094Phe)	NHS (L1094F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 198294	NM_001291867.2(NHS):c.3310C>T (p.His1104Tyr)	NHS (H1083Y +3 more)	Single nucleotide variant (missense variant)	not specified +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)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1730107	NM_001291867.2(NHS):c.3375G>A (p.Ser1125=)	NHS	Single nucleotide variant (synonymous variant)	Nance-Horan syndrome +1 more	GLikely benign
Select item 2194435	NM_001291867.2(NHS):c.3385C>G (p.Pro1129Ala)	NHS (P1108A +3 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome +1 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 3199813	NM_001291867.2(NHS):c.3496G>A (p.Glu1166Lys)	NHS (E1166K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign

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