ClinVar for Gene (Select 4810) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369224	NM_001291867.2(NHS):c.2577G>C (p.Arg859Ser)	NHS (R661S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368498	NM_001291867.2(NHS):c.617C>T (p.Pro206Leu)	NHS (P206L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367354	NM_001291867.2(NHS):c.4624A>G (p.Ser1542Gly)	NHS (S1344G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364522	NM_001291867.2(NHS):c.1109-8G>A	NHS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3363426	NM_001291867.2(NHS):c.1403G>C (p.Arg468Thr)	NHS (R270T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362562	NM_001291867.2(NHS):c.2295del (p.Lys765fs)	NHS (K567fs +3 more)	Deletion (frameshift variant)	Nance-Horan syndrome	GLikely pathogenic
Select item 3362196	NM_001291867.2(NHS):c.3074A>G (p.Tyr1025Cys)	NHS (Y1004C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362086	NM_001291867.2(NHS):c.251C>G (p.Pro84Arg)	NHS (P84R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359570	NM_001291867.2(NHS):c.4739C>T (p.Ser1580Phe)	NHS (S1382F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359366	NM_001291867.2(NHS):c.4370GAA[1] (p.Arg1458del)	NHS (R1260del +3 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3355165	NM_001291867.2(NHS):c.3825G>C (p.Gln1275His)	NHS (Q1077H +3 more)	Single nucleotide variant (missense variant)	NHS-related disorder	GUncertain significance
Select item 3354021	NM_001291867.2(NHS):c.799C>T (p.Pro267Ser)	NHS (P267S +1 more)	Single nucleotide variant (missense variant)	NHS-related disorder	GUncertain significance
Select item 3347742	NM_001291867.2(NHS):c.647del (p.Pro216fs)	NHS (P216fs +1 more)	Deletion (frameshift variant)	NHS-related disorder	GLikely pathogenic
Select item 3346893	NM_001291867.2(NHS):c.4050T>C (p.His1350=)	NHS	Single nucleotide variant (synonymous variant)	NHS-related disorder	GLikely benign
Select item 3343075	NM_001291867.2(NHS):c.3235C>T (p.Leu1079Phe)	NHS (L1058F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337396	NM_001291867.2(NHS):c.2164G>A (p.Glu722Lys)	NHS (E524K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337395	NM_001291867.2(NHS):c.781C>T (p.Pro261Ser)	NHS (P261S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3299645	NM_001291867.2(NHS):c.4358G>A (p.Arg1453Lys)	NHS (R1432K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299643	NM_001291867.2(NHS):c.3683G>T (p.Arg1228Leu)	NHS (R1030L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3253354	NM_001291867.2(NHS):c.2422G>A (p.Gly808Ser)	NHS (G610S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3245767	NC_000023.10:g.(?_14027032)_(19854400_?)del	ASB9, BEND2 +35 more	Deletion	not provided	GPathogenic
Select item 3243867	NC_000023.10:g.(?_17393881)_(20284750_?)del	ADGRG2, BCLAF3 +15 more	Deletion	Coffin-Lowry syndrome +5 more	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3234630	NM_001291867.2(NHS):c.1299C>A (p.Asp433Glu)	NHS (D235E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 3199816	NM_001291867.2(NHS):c.4769C>T (p.Ser1590Leu)	NHS (S1413L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3199814	NM_001291867.2(NHS):c.3690T>A (p.Asp1230Glu)	NHS (D1209E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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
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 3199811	NM_001291867.2(NHS):c.256G>A (p.Gly86Arg)	NHS (G86R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 3068838	NM_001291867.2(NHS):c.1191G>A (p.Arg397=)	NHS	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3064414	NM_001291867.2(NHS):c.328_348del (p.Ser110_Ala116del)	NHS	Deletion (inframe_deletion)	Nance-Horan syndrome +1 more	GUncertain significance
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3062267	NM_001291867.2(NHS):c.1108+1G>A	NHS	Single nucleotide variant (splice donor variant)	Nance-Horan syndrome +1 more	GLikely pathogenic
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 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 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 3031110	NM_001291867.2(NHS):c.243_244del (p.Gln82fs)	NHS (Q82fs)	Deletion (frameshift variant)	NHS-related disorder	GLikely pathogenic
Select item 3026415	NM_001291867.2(NHS):c.718+2_718+3dup	NHS	Duplication (splice donor variant)	not provided	GLikely benign
Select item 3024650	GRCh37/hg19 Xp22.2-22.13(chrX:16773068-17546881)x3	NHS, RBBP7 +3 more	Copy number gain	not provided	GUncertain significance
Select item 3024649	GRCh37/hg19 Xp22.2-22.13(chrX:16582625-18323335)x0	BEND2, CTPS2 +9 more	Copy number loss	not provided	GPathogenic
Select item 3020220	NM_001291867.2(NHS):c.4223-12T>C	NHS	Single nucleotide variant (intron variant)	Nance-Horan syndrome	GLikely benign
Select item 3019078	NM_001291867.2(NHS):c.1502G>A (p.Arg501His)	NHS (R303H +3 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome	GUncertain significance
Select item 3018077	NM_001291867.2(NHS):c.2448G>A (p.Gly816=)	NHS	Single nucleotide variant (synonymous variant)	Nance-Horan syndrome	GBenign
Select item 3015567	NM_001291867.2(NHS):c.4222+18T>C	NHS	Single nucleotide variant (intron variant)	Nance-Horan syndrome	GBenign
Select item 3008307	NM_001291867.2(NHS):c.3532A>G (p.Ser1178Gly)	NHS (S1001G +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3004445	NM_001291867.2(NHS):c.4536A>G (p.Thr1512=)	NHS	Single nucleotide variant (synonymous variant)	Nance-Horan syndrome	GBenign
Select item 3004046	NM_001291867.2(NHS):c.3745G>A (p.Asp1249Asn)	NHS (D1051N +3 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome	GUncertain significance
Select item 3001960	NM_001291867.2(NHS):c.2322C>T (p.Ser774=)	NHS	Single nucleotide variant (synonymous variant)	Nance-Horan syndrome	GLikely benign
Select item 3001419	NM_001291867.2(NHS):c.736G>T (p.Asp246Tyr)	NHS (D246Y +1 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome	GUncertain significance
Select item 2998345	NM_001291867.2(NHS):c.2297C>T (p.Ser766Phe)	NHS (S745F +3 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome	GUncertain significance
Select item 2995541	NM_001291867.2(NHS):c.916-17T>C	NHS	Single nucleotide variant (intron variant)	Nance-Horan syndrome	GLikely benign
Select item 2994766	NM_001291867.2(NHS):c.2963C>G (p.Thr988Arg)	NHS (T790R +3 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome	GLikely benign
Select item 2992493	NM_001291867.2(NHS):c.2512C>T (p.Pro838Ser)	NHS (P640S +3 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome	GUncertain significance
Select item 2985677	NM_001291867.2(NHS):c.2714A>G (p.Asn905Ser)	NHS (N905S +3 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome	GUncertain significance
Select item 2970882	NM_001291867.2(NHS):c.4699T>C (p.Ser1567Pro)	NHS (S1369P +3 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome	GUncertain significance
Select item 2965338	NM_001291867.2(NHS):c.1109-18C>A	NHS	Single nucleotide variant (intron variant)	Nance-Horan syndrome	GLikely benign
Select item 2956718	NM_001291867.2(NHS):c.950T>C (p.Met317Thr)	NHS (M140T +3 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome	GBenign
Select item 2954752	NM_001291867.2(NHS):c.1466A>G (p.Lys489Arg)	NHS (K489R +3 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome	GUncertain significance
Select item 2915984	NM_001291867.2(NHS):c.4121C>G (p.Ser1374Cys)	NHS (S1197C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2913177	NM_001291867.2(NHS):c.3132A>G (p.Pro1044=)	NHS	Single nucleotide variant (synonymous variant)	Nance-Horan syndrome	GBenign
Select item 2910305	NM_001291867.2(NHS):c.554A>G (p.Gln185Arg)	NHS (Q185R)	Single nucleotide variant (missense variant)	Nance-Horan syndrome	GUncertain significance
Select item 2910032	NM_001291867.2(NHS):c.4429AGC[3] (p.Ser1480del)	NHS (S1303del +3 more)	Microsatellite (inframe_deletion)	Nance-Horan syndrome	GUncertain significance
Select item 2909230	NM_001291867.2(NHS):c.2880T>C (p.Tyr960=)	NHS	Single nucleotide variant (synonymous variant)	Nance-Horan syndrome	GBenign
Select item 2908613	NM_001291867.2(NHS):c.1994C>T (p.Ser665Leu)	NHS (S665L +3 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome	GUncertain significance
Select item 2906507	NM_001291867.2(NHS):c.2749C>A (p.Gln917Lys)	NHS (Q719K +3 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome	GBenign
Select item 2906229	NM_001291867.2(NHS):c.3505A>C (p.Thr1169Pro)	NHS (T1148P +3 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome	GUncertain significance
Select item 2903815	NM_001291867.2(NHS):c.2690C>T (p.Thr897Met)	NHS (T897M +3 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome	GLikely benign
Select item 2903273	NM_001291867.2(NHS):c.366G>A (p.Leu122=)	NHS	Single nucleotide variant (synonymous variant)	Nance-Horan syndrome	GLikely benign
Select item 2901926	NM_001291867.2(NHS):c.424G>C (p.Val142Leu)	NHS (V142L)	Single nucleotide variant (missense variant)	Nance-Horan syndrome	GUncertain significance
Select item 2900547	NM_001291867.2(NHS):c.1246G>C (p.Asp416His)	NHS (D239H +3 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome	GLikely benign
Select item 2894740	NM_001291867.2(NHS):c.3386C>A (p.Pro1129Gln)	NHS (P1129Q +3 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome	GUncertain significance
Select item 2893442	NM_001291867.2(NHS):c.567C>T (p.Pro189=)	NHS	Single nucleotide variant (synonymous variant)	Nance-Horan syndrome	GLikely benign
Select item 2891087	NM_001291867.2(NHS):c.1441G>A (p.Gly481Ser)	NHS (G481S +3 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome	GUncertain significance
Select item 2889344	NM_001291867.2(NHS):c.81G>C (p.Ala27=)	NHS	Single nucleotide variant (synonymous variant)	Nance-Horan syndrome	GLikely benign
Select item 2888291	NM_001291867.2(NHS):c.4233G>A (p.Pro1411=)	NHS	Single nucleotide variant (synonymous variant)	Nance-Horan syndrome	GLikely benign
Select item 2886316	NM_001291867.2(NHS):c.2721C>T (p.Pro907=)	NHS	Single nucleotide variant (synonymous variant)	Nance-Horan syndrome	GLikely benign
Select item 2882176	NM_001291867.2(NHS):c.4627C>A (p.Pro1543Thr)	NHS (P1522T +3 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome	GLikely benign
Select item 2877354	NM_001291867.2(NHS):c.2131G>C (p.Asp711His)	NHS (D534H +3 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome	GUncertain significance
Select item 2876334	NM_001291867.2(NHS):c.844T>G (p.Phe282Val)	NHS (F105V +1 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome	GUncertain significance
Select item 2876333	NM_001291867.2(NHS):c.719-9C>G	NHS	Single nucleotide variant (intron variant)	Nance-Horan syndrome	GUncertain significance
Select item 2873744	NM_001291867.2(NHS):c.819G>A (p.Arg273=)	NHS	Single nucleotide variant (synonymous variant)	Nance-Horan syndrome	GBenign
Select item 2871363	NM_001291867.2(NHS):c.1041G>A (p.Thr347=)	NHS	Single nucleotide variant (synonymous variant)	Nance-Horan syndrome	GLikely benign
Select item 2868446	NM_001291867.2(NHS):c.3792C>A (p.Thr1264=)	NHS	Single nucleotide variant (synonymous variant)	Nance-Horan syndrome	GLikely benign
Select item 2861837	NM_001291867.2(NHS):c.267C>T (p.Ser89=)	NHS	Single nucleotide variant (synonymous variant)	Nance-Horan syndrome	GLikely benign
Select item 2857739	NM_001291867.2(NHS):c.3666T>C (p.Thr1222=)	NHS	Single nucleotide variant (synonymous variant)	Nance-Horan syndrome	GBenign
Select item 2855169	NM_001291867.2(NHS):c.3456T>C (p.Val1152=)	NHS	Single nucleotide variant (synonymous variant)	Nance-Horan syndrome	GLikely benign
Select item 2852855	NM_001291867.2(NHS):c.1925C>A (p.Pro642His)	NHS (P444H +3 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome	GBenign
Select item 2852425	NM_001291867.2(NHS):c.1514G>A (p.Arg505Gln)	NHS (R307Q +3 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome	GBenign
Select item 2851377	NM_001291867.2(NHS):c.3307_3323del (p.His1103fs)	NHS (H1103fs +3 more)	Deletion (frameshift variant)	Nance-Horan syndrome	GPathogenic
Select item 2851034	NM_001291867.2(NHS):c.1527G>A (p.Arg509=)	NHS	Single nucleotide variant (synonymous variant)	Nance-Horan syndrome	GLikely benign
Select item 2851033	NM_001291867.2(NHS):c.1517G>A (p.Ser506Asn)	NHS (S308N +3 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome	GUncertain significance
Select item 2843212	NM_001291867.2(NHS):c.3049G>A (p.Gly1017Ser)	NHS (G840S +3 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome	GBenign
Select item 2838970	NM_001291867.2(NHS):c.610C>T (p.Arg204Cys)	NHS (R204C +1 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome	GLikely benign
Select item 2819488	NM_001291867.2(NHS):c.165G>A (p.Glu55=)	NHS	Single nucleotide variant (synonymous variant)	Nance-Horan syndrome	GLikely benign
Select item 2814696	NM_001291867.2(NHS):c.2762G>A (p.Gly921Asp)	NHS (G921D +3 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome	GBenign

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