ClinVar for Gene (Select 101928222) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 137

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3055122	NM_002381.5(MATN3):c.1020T>C (p.Asn340=)	MATN3, WDR35-DT	Single nucleotide variant (synonymous variant)	MATN3-related disorder	GLikely benign
Select item 3021712	NM_002381.5(MATN3):c.1309C>T (p.Arg437Ter)	MATN3, WDR35-DT (R437*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3021175	NM_002381.5(MATN3):c.1168+19del	MATN3, WDR35-DT	Deletion (intron variant)	not provided	GBenign
Select item 3016527	NM_002381.5(MATN3):c.916+19del	MATN3, WDR35-DT	Deletion (intron variant)	not provided	GBenign
Select item 3009223	NM_002381.5(MATN3):c.1042+5G>A	MATN3, WDR35-DT	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3001508	NM_002381.5(MATN3):c.801_802del (p.Val269fs)	MATN3, WDR35-DT (V269fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2999161	NM_002381.5(MATN3):c.1152T>C (p.Asp384=)	MATN3, WDR35-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987485	NM_002381.5(MATN3):c.917-11T>C	MATN3, WDR35-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985487	NM_002381.5(MATN3):c.1169-13C>T	MATN3, WDR35-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984011	NM_002381.5(MATN3):c.1072G>A (p.Gly358Arg)	MATN3, WDR35-DT (G358R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982003	NM_002381.5(MATN3):c.1294+1_1294+11del	MATN3, WDR35-DT	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 2975133	NM_002381.5(MATN3):c.1042+10G>T	MATN3, WDR35-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970886	NM_002381.5(MATN3):c.897C>T (p.Ala299=)	MATN3, WDR35-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963736	NM_002381.5(MATN3):c.876C>G (p.Ser292Arg)	MATN3, WDR35-DT (S292R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895174	NM_002381.5(MATN3):c.1209C>T (p.His403=)	MATN3, WDR35-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877323	NM_002381.5(MATN3):c.951T>C (p.Cys317=)	MATN3, WDR35-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2821790	NM_002381.5(MATN3):c.1176C>G (p.Asp392Glu)	MATN3, WDR35-DT (D392E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2797541	NM_002381.5(MATN3):c.1327G>A (p.Glu443Lys)	MATN3, WDR35-DT (E443K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2779054	NM_002381.5(MATN3):c.1081C>A (p.His361Asn)	MATN3, WDR35-DT (H361N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2776012	NM_002381.5(MATN3):c.1169-14C>T	MATN3, WDR35-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2773023	NM_002381.5(MATN3):c.916+17G>A	MATN3, WDR35-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2765949	NM_002381.5(MATN3):c.1405+2T>C	MATN3, WDR35-DT	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2731695	NM_002381.5(MATN3):c.1324A>G (p.Thr442Ala)	MATN3, WDR35-DT (T442A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2707688	NM_002381.5(MATN3):c.1405+13G>A	MATN3, WDR35-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2706511	NM_002381.5(MATN3):c.834C>T (p.Val278=)	MATN3, WDR35-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2701877	NM_002381.5(MATN3):c.1018A>G (p.Asn340Asp)	MATN3, WDR35-DT (N340D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2534129	NM_002381.5(MATN3):c.1357G>A (p.Ala453Thr)	MATN3, WDR35-DT (A453T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361949	NM_002381.5(MATN3):c.1114C>G (p.His372Asp)	MATN3, WDR35-DT (H372D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340342	NM_002381.5(MATN3):c.1310G>A (p.Arg437Gln)	MATN3, WDR35-DT (R437Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334059	NM_002381.5(MATN3):c.1334C>G (p.Ala445Gly)	MATN3, WDR35-DT (A445G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253235	NM_002381.5(MATN3):c.1394T>G (p.Leu465Arg)	MATN3, WDR35-DT (L465R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214948	NM_002381.5(MATN3):c.791C>T (p.Ala264Val)	MATN3, WDR35-DT (A264V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2170116	NM_002381.5(MATN3):c.969T>C (p.Asn323=)	MATN3, WDR35-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2084694	NM_002381.5(MATN3):c.1172G>A (p.Arg391His)	MATN3, WDR35-DT (R391H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2082826	NM_002381.5(MATN3):c.1412A>C (p.Asp471Ala)	WDR35-DT, MATN3 (D471A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2081950	NM_002381.5(MATN3):c.1315C>A (p.Leu439Ile)	MATN3, WDR35-DT (L439I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2072123	NM_002381.5(MATN3):c.1169-6G>A	MATN3, WDR35-DT	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2072052	NM_002381.5(MATN3):c.1192T>A (p.Ser398Thr)	MATN3, WDR35-DT (S398T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2036825	NM_002381.5(MATN3):c.1230C>A (p.Ala410=)	MATN3, WDR35-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2026756	NM_002381.5(MATN3):c.1008_1009dup (p.Tyr337fs)	MATN3, WDR35-DT (Y337fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1986524	NM_002381.5(MATN3):c.972C>T (p.Asp324=)	MATN3, WDR35-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1984609	NM_002381.5(MATN3):c.880G>A (p.Gly294Arg)	WDR35-DT, MATN3 (G294R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1979849	NM_002381.5(MATN3):c.1043-7T>C	MATN3, WDR35-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1931936	NM_002381.5(MATN3):c.898G>A (p.Asp300Asn)	MATN3, WDR35-DT (D300N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1911992	NM_002381.5(MATN3):c.1219A>G (p.Ser407Gly)	MATN3, WDR35-DT (S407G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1902581	NM_002381.5(MATN3):c.1015T>A (p.Leu339Met)	MATN3, WDR35-DT (L339M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1898617	NM_002381.5(MATN3):c.916+12G>A	MATN3, WDR35-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1714237	NM_002381.5(MATN3):c.886A>T (p.Thr296Ser)	MATN3, WDR35-DT (T296S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1702522	NM_002381.5(MATN3):c.962G>C (p.Cys321Ser)	MATN3, WDR35-DT (C321S)	Single nucleotide variant (missense variant)	Connective tissue disorder	GUncertain significance
Select item 1666628	NM_002381.5(MATN3):c.1295-16C>T	MATN3, WDR35-DT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1640630	NM_002381.5(MATN3):c.916G>C (p.Ala306Pro)	WDR35-DT, MATN3 (A306P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1599297	NM_002381.5(MATN3):c.885C>T (p.Tyr295=)	MATN3, WDR35-DT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1579437	NM_002381.5(MATN3):c.1230C>T (p.Ala410=)	MATN3, WDR35-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1569834	NM_002381.5(MATN3):c.1406-10_1406-8del	MATN3, WDR35-DT	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1548380	NM_002381.5(MATN3):c.891G>A (p.Leu297=)	MATN3, WDR35-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1534251	NM_002381.5(MATN3):c.1380G>A (p.Ser460=)	MATN3, WDR35-DT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1533556	NM_002381.5(MATN3):c.1096G>T (p.Asp366Tyr)	MATN3, WDR35-DT (D366Y)	Single nucleotide variant (missense variant)	MATN3-related disorder +1 more	GLikely benign
Select item 1509102	NM_002381.5(MATN3):c.851A>G (p.Glu284Gly)	MATN3, WDR35-DT (E284G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1497949	NM_002381.5(MATN3):c.881del (p.Gly294fs)	MATN3, WDR35-DT (G294fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1480027	NM_002381.5(MATN3):c.1285A>G (p.Thr429Ala)	MATN3, WDR35-DT (T429A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1457592	NM_002381.5(MATN3):c.1083C>A (p.His361Gln)	MATN3, WDR35-DT (H361Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1449969	NM_002381.5(MATN3):c.1456C>T (p.Arg486Cys)	MATN3, WDR35-DT (R486C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1429571	NM_002381.5(MATN3):c.881G>A (p.Gly294Glu)	MATN3, WDR35-DT (G294E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1424250	NM_002381.5(MATN3):c.1042+6T>C	MATN3, WDR35-DT	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1405779	NM_002381.5(MATN3):c.838A>C (p.Ile280Leu)	WDR35-DT, MATN3 (I280L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1384545	NM_002381.5(MATN3):c.1105G>C (p.Gly369Arg)	MATN3, WDR35-DT (G369R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1353810	NM_002381.5(MATN3):c.1290T>G (p.Cys430Trp)	MATN3, WDR35-DT (C430W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1352147	NM_002381.5(MATN3):c.872_873del (p.Glu290_Cys291insTer)	MATN3, WDR35-DT	Microsatellite (nonsense)	not provided	GUncertain significance
Select item 1335378	NM_002381.5(MATN3):c.1006G>A (p.Gly336Ser)	MATN3, WDR35-DT (G336S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305514	NM_002381.5(MATN3):c.1439A>T (p.Glu480Val)	MATN3, WDR35-DT (E480V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1299496	NC_000002.12:g.19998776_20009244dup	MATN3, WDR35-DT	Duplication	Multiple epiphyseal dysplasia type 5	GPathogenic
Select item 1294850	NM_002381.5(MATN3):c.917-111GT[16]	MATN3, WDR35-DT	Microsatellite (intron variant)	not provided	GBenign
Select item 1284132	NM_002381.5(MATN3):c.917-112_917-111insTCTGTGTGTGTG	MATN3, WDR35-DT	Microsatellite (intron variant)	not provided	GBenign
Select item 1273770	NM_002381.5(MATN3):c.1405+234T>C	MATN3, WDR35-DT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273275	NM_002381.5(MATN3):c.1042+258C>T	MATN3, WDR35-DT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266892	NM_002381.5(MATN3):c.791-153A>G	MATN3, WDR35-DT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251210	NM_002381.5(MATN3):c.916+111T>C	MATN3, WDR35-DT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246717	NM_002381.5(MATN3):c.917-111GT[20]	MATN3, WDR35-DT	Microsatellite (intron variant)	not provided	GBenign
Select item 1245800	NM_002381.5(MATN3):c.917-81A>G	MATN3, WDR35-DT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242748	NM_002381.5(MATN3):c.917-111GT[17]	MATN3, WDR35-DT	Microsatellite (intron variant)	not provided	GBenign
Select item 1225047	NM_002381.5(MATN3):c.916+184A>G	MATN3, WDR35-DT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218452	NR_110235.1(WDR35-DT):n.195C>A	WDR35, WDR35-DT	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1181726	NR_110235.1(WDR35-DT):n.19T>C	WDR35, WDR35-DT	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1157384	NM_002381.5(MATN3):c.981C>T (p.Gly327=)	MATN3, WDR35-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1107824	NM_002381.5(MATN3):c.939C>T (p.Asn313=)	MATN3, WDR35-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1091911	NM_002381.5(MATN3):c.1116T>C (p.His372=)	MATN3, WDR35-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1078941	NM_002381.5(MATN3):c.1373T>A (p.Val458Asp)	MATN3, WDR35-DT (V458D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1051982	NM_002381.5(MATN3):c.903G>C (p.Lys301Asn)	MATN3, WDR35-DT (K301N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1047857	NM_002381.5(MATN3):c.1122A>T (p.Glu374Asp)	MATN3, WDR35-DT (E374D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 930909	NM_002381.5(MATN3):c.868G>A (p.Glu290Lys)	MATN3, WDR35-DT (E290K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 898329	NM_002381.5(MATN3):c.1406-8C>T	MATN3, WDR35-DT	Single nucleotide variant (intron variant)	Multiple epiphyseal dysplasia type 5	GUncertain significance
Select item 898328	NM_002381.5(MATN3):c.*74G>A	MATN3, WDR35-DT	Single nucleotide variant (3 prime UTR variant)	Multiple epiphyseal dysplasia type 5	GUncertain significance
Select item 898327	NM_002381.5(MATN3):c.*152A>T	MATN3, WDR35-DT	Single nucleotide variant (3 prime UTR variant)	Multiple epiphyseal dysplasia type 5	GUncertain significance
Select item 898326	NM_002381.5(MATN3):c.*211A>C	MATN3, WDR35-DT	Single nucleotide variant (3 prime UTR variant)	Multiple epiphyseal dysplasia type 5	GUncertain significance
Select item 897165	NM_002381.5(MATN3):c.*312T>A	MATN3, WDR35-DT	Single nucleotide variant (3 prime UTR variant)	Multiple epiphyseal dysplasia type 5	GUncertain significance
Select item 897164	NM_002381.5(MATN3):c.*749T>G	MATN3, WDR35-DT	Single nucleotide variant (3 prime UTR variant)	Multiple epiphyseal dysplasia type 5	GUncertain significance
Select item 897163	NM_002381.5(MATN3):c.*759C>T	MATN3, WDR35-DT	Single nucleotide variant (3 prime UTR variant)	Multiple epiphyseal dysplasia type 5	GBenign
Select item 897162	NM_002381.5(MATN3):c.*955G>A	MATN3, WDR35-DT	Single nucleotide variant (3 prime UTR variant)	Multiple epiphyseal dysplasia type 5	GUncertain significance
Select item 897161	NM_002381.5(MATN3):c.*989C>G	MATN3, WDR35-DT	Single nucleotide variant (3 prime UTR variant)	Multiple epiphyseal dysplasia type 5	GUncertain significance
Select item 897160	NM_002381.5(MATN3):c.*996A>G	MATN3, WDR35-DT	Single nucleotide variant (3 prime UTR variant)	Multiple epiphyseal dysplasia type 5	GUncertain significance

<< First< Prev

Page of 2