4148[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129933244, LOC129933245 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152693	GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3	ACP1, ADAM17 +498 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933186, LOC129933187 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	ADAM17, ADI1 +546 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 150627	GRCh38/hg38 2p24.2-24.1(chr2:16723596-21600734)x1	APOB, APOB-ICR +131 more	Copy number loss	See cases	GPathogenic
Select item 154010	GRCh38/hg38 2p24.1(chr2:19667198-20009783)x3	LINC00954, LOC105373461 +8 more	Copy number gain	See cases	GLikely benign
Select item 333407	NM_020779.4(WDR35):c.53A>G (p.Gln18Arg)	MATN3, WDR35 (Q18R)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +5 more	GBenign/Likely benign
Select item 897159	NM_002381.5(MATN3):c.*1044A>C	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
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 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 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 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 333409	NM_002381.5(MATN3):c.*660G>A	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 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 333410	NM_002381.5(MATN3):c.*176C>T	MATN3, WDR35 +1 more	Single nucleotide variant (3 prime UTR variant)	Short rib-polydactyly syndrome +4 more	GBenign
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 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 333411	NM_002381.5(MATN3):c.*44C>G	MATN3, WDR35-DT	Single nucleotide variant (3 prime UTR variant)	Multiple epiphyseal dysplasia type 5	GUncertain significance
Select item 1449969	NM_002381.5(MATN3):c.1456C>T (p.Arg486Cys)	MATN3, WDR35-DT (R486C)	Single nucleotide variant (missense variant)	not provided +1 more	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 2082826	NM_002381.5(MATN3):c.1412A>C (p.Asp471Ala)	MATN3, WDR35-DT (D471A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 258647	NM_002381.5(MATN3):c.1406-4C>T	MATN3, WDR35 +1 more	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely 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 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 1273770	NM_002381.5(MATN3):c.1405+234T>C	MATN3, WDR35-DT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 258646	NM_002381.5(MATN3):c.1405+24C>G	MATN3, WDR35-DT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 2765949	NM_002381.5(MATN3):c.1405+2T>C	MATN3, WDR35-DT	Single nucleotide variant (splice donor variant)	not provided	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 1534251	NM_002381.5(MATN3):c.1380G>A (p.Ser460=)	MATN3, WDR35-DT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 284350	NM_002381.5(MATN3):c.1379C>T (p.Ser460Leu)	MATN3, WDR35-DT (S460L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1078941	NM_002381.5(MATN3):c.1373T>A (p.Val458Asp)	MATN3, WDR35-DT (V458D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 744048	NM_002381.5(MATN3):c.1368C>T (p.Asp456=)	MATN3, WDR35-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 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 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 3021712	NM_002381.5(MATN3):c.1309C>T (p.Arg437Ter)	MATN3, WDR35-DT (R437*)	Single nucleotide variant (nonsense)	not provided	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 2982003	NM_002381.5(MATN3):c.1294+1_1294+11del	MATN3, WDR35-DT	Deletion (splice donor 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 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 2036825	NM_002381.5(MATN3):c.1230C>A (p.Ala410=)	MATN3, WDR35-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 760324	NM_002381.5(MATN3):c.1218G>T (p.Val406=)	MATN3, WDR35-DT	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 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 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 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 283828	NM_002381.5(MATN3):c.1171C>T (p.Arg391Cys)	WDR35-DT, MATN3 (R391C)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
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 198148	NM_002381.5(MATN3):c.1169-10G>A	MATN3, WDR35-DT	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
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 2776012	NM_002381.5(MATN3):c.1169-14C>T	MATN3, WDR35-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1299496	NC_000002.12:g.19998776_20009244dup	MATN3, WDR35-DT	Duplication	Multiple epiphyseal dysplasia type 5	GPathogenic
Select item 560181	NM_002381.5(MATN3):c.224-2153_1168+903dup	WDR35-DT, MATN3	Duplication (splice acceptor variant +1 more)	Multiple epiphyseal dysplasia type 5	GLikely pathogenic
Select item 3021175	NM_002381.5(MATN3):c.1168+19del	MATN3, WDR35-DT	Deletion (intron variant)	not provided	GBenign
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 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 1091911	NM_002381.5(MATN3):c.1116T>C (p.His372=)	MATN3, WDR35-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 895348	NM_002381.5(MATN3):c.1114C>A (p.His372Asn)	MATN3, WDR35-DT (H372N)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 5	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 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 895349	NM_002381.5(MATN3):c.1085T>C (p.Ile362Thr)	MATN3, WDR35-DT (I362T)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 5	GUncertain significance
Select item 1457592	NM_002381.5(MATN3):c.1083C>A (p.His361Gln)	MATN3, WDR35-DT (H361Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 895350	NM_002381.5(MATN3):c.1065T>C (p.Gly355=)	MATN3, WDR35-DT	Single nucleotide variant (synonymous variant)	Multiple epiphyseal dysplasia type 5 +1 more	GConflicting classifications of pathogenicity
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 1273275	NM_002381.5(MATN3):c.1042+258C>T	MATN3, WDR35-DT	Single nucleotide variant (intron variant)	not provided	GBenign
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 1424250	NM_002381.5(MATN3):c.1042+6T>C	MATN3, WDR35-DT	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 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 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 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 2026756	NM_002381.5(MATN3):c.1008_1009dup (p.Tyr337fs)	MATN3, WDR35-DT (Y337fs)	Duplication (frameshift variant)	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 1157384	NM_002381.5(MATN3):c.981C>T (p.Gly327=)	MATN3, WDR35-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2170116	NM_002381.5(MATN3):c.969T>C (p.Asn323=)	MATN3, WDR35-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2877323	NM_002381.5(MATN3):c.951T>C (p.Cys317=)	MATN3, WDR35-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 373394	NM_002381.5(MATN3):c.946G>A (p.Gly316Arg)	MATN3, WDR35-DT (G316R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709045	NM_002381.5(MATN3):c.945C>T (p.His315=)	MATN3, WDR35-DT	Single nucleotide variant (synonymous variant)	Connective tissue disorder +2 more	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 2987485	NM_002381.5(MATN3):c.917-11T>C	WDR35-DT, MATN3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1294850	NM_002381.5(MATN3):c.917-111GT[16]	MATN3, WDR35-DT	Microsatellite (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

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