"GeneDx"[submitter] AND "NHS"[gene] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1208167	NC_000023.11:g.17375179G>T	NHS	Single nucleotide variant	not provided	GLikely benign
Select item 1197552	NC_000023.11:g.17375188C>T	NHS	Single nucleotide variant	not provided	GLikely benign
Select item 1275467	NM_001291867.2(NHS):c.-555G>A	NHS	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2663674	NM_001291867.2(NHS):c.-3G>T	NHS	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
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 1305108	NM_001291867.2(NHS):c.181G>A (p.Val61Ile)	NHS (V61I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3064414	NM_001291867.2(NHS):c.328_348del (p.Ser110_Ala116del)	NHS	Deletion (inframe_deletion)	Nance-Horan syndrome +1 more	GUncertain significance
Select item 546440	NM_001291867.2(NHS):c.397del (p.Ala133fs)	NHS (A133fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 432524	NM_001291867.2(NHS):c.553C>T (p.Gln185Ter)	NHS (Q185*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 421384	NM_001291867.2(NHS):c.565+5G>A	NHS	Single nucleotide variant (intron variant)	Nance-Horan syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1246275	NM_001291867.2(NHS):c.566-52382C>A	NHS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262958	NM_001291867.2(NHS):c.566-52263C>G	NHS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1704847	NM_001291867.2(NHS):c.566-52082C>T	NHS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195593	NM_001291867.2(NHS):c.566-52074G>T	NHS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217417	NM_001291867.2(NHS):c.566-177A>G	NHS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 96644	NM_001291867.2(NHS):c.566-10dup	NHS	Duplication (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 2497750	NM_001291867.2(NHS):c.607T>C (p.Tyr203His)	NHS (Y203H +1 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 1343031	NM_001291867.2(NHS):c.691C>T (p.Arg231Trp)	NHS (R231W +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1273666	NM_001291867.2(NHS):c.719-89_719-88del	NHS	Deletion (intron variant)	not provided	GBenign
Select item 1252097	NM_001291867.2(NHS):c.719-88del	NHS	Deletion (intron variant)	not provided	GBenign
Select item 620118	NM_001291867.2(NHS):c.742C>T (p.Arg248Ter)	NHS (R248* +1 more)	Single nucleotide variant (nonsense)	Nance-Horan syndrome +1 more	GPathogenic
Select item 1305635	NM_001291867.2(NHS):c.791C>T (p.Pro264Leu)	NHS (P264L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1203632	NM_001291867.2(NHS):c.853-299GGAA[2]	NHS	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1270580	NM_001291867.2(NHS):c.853-207AAGG[3]	NHS	Microsatellite (intron variant)	not provided	GBenign
Select item 1252244	NM_001291867.2(NHS):c.853-20T>C	NHS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 393222	NM_001291867.2(NHS):c.949A>G (p.Met317Val)	NHS (M296V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1300609	NM_001291867.2(NHS):c.964C>G (p.Pro322Ala)	NHS (P124A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 975298	NM_001291867.2(NHS):c.1008G>C (p.Gln336His)	NHS (Q138H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 524021	NM_001291867.2(NHS):c.1038del (p.Thr347fs)	NHS (T326fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1723568	NM_001291867.2(NHS):c.1071A>G (p.Gln357=)	NHS	Single nucleotide variant (synonymous 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 2499862	NM_001291867.2(NHS):c.1205T>A (p.Ile402Asn)	NHS (I204N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 546439	NM_001291867.2(NHS):c.1253del (p.Ser418fs)	NHS (S241fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1306661	NM_001291867.2(NHS):c.1336G>C (p.Asp446His)	NHS (D248H +3 more)	Single nucleotide variant (missense 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 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 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 2580817	NM_001291867.2(NHS):c.1982C>T (p.Ser661Leu)	NHS (S463L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303754	NM_001291867.2(NHS):c.1992C>G (p.Asp664Glu)	NHS (D466E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809873	NM_001291867.2(NHS):c.2027A>G (p.Asn676Ser)	NHS (N478S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1810517	NM_001291867.2(NHS):c.2242C>A (p.Leu748Met)	NHS (L571M +3 more)	Single nucleotide variant (missense variant)	not provided	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 1703345	NM_001291867.2(NHS):c.2449G>C (p.Ala817Pro)	NHS (A619P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305188	NM_001291867.2(NHS):c.2506G>C (p.Gly836Arg)	NHS (G638R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 451070	NM_001291867.2(NHS):c.2617C>T (p.Pro873Ser)	NHS (P852S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2580639	NM_001291867.2(NHS):c.3062C>T (p.Pro1021Leu)	NHS (P1000L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312078	NM_001291867.2(NHS):c.3167T>A (p.Val1056Asp)	NHS (V1035D +3 more)	Single nucleotide variant (missense variant)	not provided	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 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 1801866	NM_001291867.2(NHS):c.3274_3276dup (p.Ser1092_Ala1093insSer)	NHS	Duplication (inframe_insertion)	not provided +1 more	GUncertain significance
Select item 1309489	NM_001291867.2(NHS):c.3316C>T (p.His1106Tyr)	NHS (H1085Y +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 503897	NM_001291867.2(NHS):c.3447del (p.Glu1150fs)	NHS (E1150fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1706407	NM_001291867.2(NHS):c.3512C>A (p.Thr1171Lys)	NHS (T1150K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 96639	NM_001291867.2(NHS):c.3545C>T (p.Pro1182Leu)	NHS (P1161L +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 1309597	NM_001291867.2(NHS):c.3730T>C (p.Ser1244Pro)	NHS (S1046P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500491	NM_001291867.2(NHS):c.3850G>C (p.Asp1284His)	NHS (D1086H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2501857	NM_001291867.2(NHS):c.4199A>G (p.Asn1400Ser)	NHS (N1202S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1230610	NM_001291867.2(NHS):c.4223-99TGTT[8]	NHS	Microsatellite (intron variant)	not provided	GBenign
Select item 1214328	NM_001291867.2(NHS):c.4223-99TGTT[9]	NHS	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1202221	NM_001291867.2(NHS):c.4223-99TGTT[6]	NHS	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1199790	NM_001291867.2(NHS):c.4223-47C>T	NHS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 393027	NM_001291867.2(NHS):c.4259T>A (p.Leu1420His)	NHS (L1399H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1198774	NM_001291867.2(NHS):c.4349+90A>G	NHS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186035	NM_001291867.2(NHS):c.4350-75T>C	NHS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1698183	NM_001291867.2(NHS):c.4428T>G (p.Ser1476Arg)	NHS (S1278R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 451241	NM_001291867.2(NHS):c.4433_4436delinsA (p.Ser1478_Ser1479delinsAsn)	NHS	Indel (inframe_indel)	not provided	GUncertain significance
Select item 1698234	NM_001291867.2(NHS):c.4492A>G (p.Arg1498Gly)	NHS (R1300G +3 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 1306984	NM_001291867.2(NHS):c.4646C>G (p.Pro1549Arg)	NHS (P1351R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309146	NM_001291867.2(NHS):c.4763T>C (p.Phe1588Ser)	NHS (F1390S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253946	GRCh37/hg19 Xp22.2-22.13(chrX:16997258-17701223)x2	REPS2, NHS	Copy number gain	See cases	GUncertain significance
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253615	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3	ACE2, ACOT9 +316 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253571	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1	ACE2, ACOT9 +316 more	Copy number loss	See cases	GPathogenic
Select item 253523	GRCh37/hg19 Xp22.33-21.3(chrX:1378591-25940311)x2	CTPS2, FAM9C +106 more	Copy number gain	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253489	GRCh37/hg19 Xp22.33-21.1(chrX:71267-35809046)x1	DCAF8L2, TBL1X +126 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
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

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Items: 100