MATN4[gene] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 3059206	NM_001393530.1(MATN4):c.*4C>T	MATN4	Single nucleotide variant (3 prime UTR variant)	MATN4-related disorder	GBenign
Select item 785656	NM_001393530.1(MATN4):c.1725C>A (p.Asn575Lys)	MATN4 (N493K +2 more)	Single nucleotide variant (missense variant +1 more)	MATN4-related disorder +1 more	GBenign
Select item 1342534	NM_001393530.1(MATN4):c.1688-7C>A	LOC130065955, MATN4	Single nucleotide variant (3 prime UTR variant +1 more)	Holoprosencephaly sequence	GUncertain significance
Select item 3038510	NM_001393530.1(MATN4):c.1681C>A (p.Leu561Met)	MATN4 (L479M +2 more)	Single nucleotide variant (missense variant)	MATN4-related disorder	GLikely benign
Select item 714818	NM_001393530.1(MATN4):c.1651C>T (p.Arg551Cys)	MATN4 (R510C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3123982	NM_001393530.1(MATN4):c.1603G>A (p.Glu535Lys)	MATN4 (E494K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293464	NM_001393530.1(MATN4):c.1601C>G (p.Thr534Arg)	MATN4 (T452R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041719	NM_001393530.1(MATN4):c.1598G>A (p.Gly533Glu)	MATN4 (G451E +2 more)	Single nucleotide variant (missense variant)	MATN4-related disorder	GBenign
Select item 3048790	NM_001393530.1(MATN4):c.1579+7G>A	MATN4	Single nucleotide variant (intron variant)	MATN4-related disorder	GLikely benign
Select item 3123981	NM_001393530.1(MATN4):c.1577C>T (p.Pro526Leu)	MATN4 (P444L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591566	NM_001393530.1(MATN4):c.1571T>A (p.Ile524Asn)	MATN4 (I483N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060323	NM_001393530.1(MATN4):c.1564G>A (p.Gly522Ser)	MATN4 (G440S +2 more)	Single nucleotide variant (missense variant)	MATN4-related disorder	GBenign
Select item 2288687	NM_001393530.1(MATN4):c.1520C>T (p.Ala507Val)	MATN4 (A466V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293463	NM_001393530.1(MATN4):c.1516T>C (p.Tyr506His)	MATN4 (Y506H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293468	NM_001393530.1(MATN4):c.1475T>G (p.Leu492Arg)	MATN4 (L410R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037464	NM_001393530.1(MATN4):c.1426+4G>C	MATN4	Single nucleotide variant (intron variant)	MATN4-related disorder	GLikely benign
Select item 2532934	NM_001393530.1(MATN4):c.1349C>T (p.Pro450Leu)	MATN4 (P368L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340381	NM_001393530.1(MATN4):c.1336G>C (p.Ala446Pro)	MATN4 (A364P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321185	NM_001393530.1(MATN4):c.1312G>A (p.Glu438Lys)	MATN4 (E356K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044089	NM_001393530.1(MATN4):c.1311C>T (p.Ser437=)	MATN4	Single nucleotide variant (synonymous variant)	MATN4-related disorder	GLikely benign
Select item 2531815	NM_001393530.1(MATN4):c.1289A>G (p.His430Arg)	MATN4 (H348R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515120	NM_001393530.1(MATN4):c.1252A>C (p.Met418Leu)	MATN4 (M336L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361475	NM_001393530.1(MATN4):c.1243G>A (p.Val415Met)	MATN4 (V333M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283291	NM_001393530.1(MATN4):c.1232C>T (p.Ala411Val)	MATN4 (A370V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123980	NM_001393530.1(MATN4):c.1196T>C (p.Leu399Pro)	MATN4 (L358P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123979	NM_001393530.1(MATN4):c.1189T>C (p.Phe397Leu)	MATN4 (F315L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379233	NM_001393530.1(MATN4):c.1186G>A (p.Glu396Lys)	MATN4 (E355K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319827	NM_001393530.1(MATN4):c.1175G>A (p.Arg392His)	MATN4 (R351H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508815	NM_001393530.1(MATN4):c.1112T>C (p.Ile371Thr)	MATN4 (I371T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2632500	NM_001393530.1(MATN4):c.985C>T (p.Leu329Phe)	MATN4 (L247F +2 more)	Single nucleotide variant (missense variant)	MATN4-related disorder	GUncertain significance
Select item 2229986	NM_001393530.1(MATN4):c.980G>A (p.Arg327Gln)	MATN4 (R245Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293465	NM_001393530.1(MATN4):c.959G>A (p.Arg320His)	MATN4 (R238H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123986	NM_001393530.1(MATN4):c.933G>T (p.Gln311His)	MATN4 (Q229H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708006	NM_001393530.1(MATN4):c.909C>T (p.Gly303=)	MATN4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2410434	NM_001393530.1(MATN4):c.892C>T (p.Arg298Trp)	MATN4 (R257W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059621	NM_001393530.1(MATN4):c.890-10C>T	MATN4	Single nucleotide variant (intron variant)	MATN4-related disorder	GBenign
Select item 2593575	NM_001393530.1(MATN4):c.719A>C (p.His240Pro)	MATN4 (H240P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 777578	NM_001393530.1(MATN4):c.690C>T (p.Cys230=)	MATN4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3123985	NM_001393530.1(MATN4):c.665G>A (p.Gly222Glu)	MATN4 (G222E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293467	NM_001393530.1(MATN4):c.655T>C (p.Cys219Arg)	MATN4 (C219R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123984	NM_001393530.1(MATN4):c.649G>T (p.Asp217Tyr)	MATN4 (D217Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 444118	NM_001393530.1(MATN4):c.643+703C>T	MATN4, RBPJL	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GBenign
Select item 2547758	NM_001393530.1(MATN4):c.635G>A (p.Arg212Gln)	MATN4 (R212Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277460	NM_001393530.1(MATN4):c.590A>C (p.Glu197Ala)	MATN4 (E197A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547254	NM_001393530.1(MATN4):c.577G>A (p.Val193Ile)	MATN4 (V193I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362995	NM_001393530.1(MATN4):c.535G>A (p.Gly179Ser)	MATN4 (G179S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540136	NM_001393530.1(MATN4):c.523C>T (p.Arg175Cys)	MATN4 (R175C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 183295	NM_001393530.1(MATN4):c.515G>C (p.Gly172Ala)	MATN4 (G172A)	Single nucleotide variant (missense variant)	Microcephaly +6 more	GLikely pathogenic
Select item 2301296	NM_001393530.1(MATN4):c.509C>G (p.Ala170Gly)	MATN4 (A170G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1338928	NM_001393530.1(MATN4):c.490C>A (p.Arg164Ser)	MATN4 (R164S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2393926	NM_001393530.1(MATN4):c.481G>A (p.Ala161Thr)	MATN4 (A161T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399380	NM_001393530.1(MATN4):c.468G>T (p.Glu156Asp)	MATN4 (E156D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496417	NM_001393530.1(MATN4):c.430A>G (p.Ile144Val)	MATN4 (I144V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302566	NM_001393530.1(MATN4):c.413T>C (p.Val138Ala)	MATN4 (V138A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1338927	NM_001393530.1(MATN4):c.348A>G (p.Ala116=)	MATN4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3058887	NM_001393530.1(MATN4):c.315G>A (p.Val105=)	MATN4	Single nucleotide variant (synonymous variant)	MATN4-related disorder	GBenign
Select item 3123983	NM_001393530.1(MATN4):c.304C>G (p.Arg102Gly)	MATN4 (R102G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033375	NM_001393530.1(MATN4):c.163C>T (p.Gln55Ter)	MATN4 (Q55*)	Single nucleotide variant (nonsense)	MATN4-related disorder	GLikely benign
Select item 2353170	NM_001393530.1(MATN4):c.145G>C (p.Glu49Gln)	MATN4 (E49Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310061	NM_001393530.1(MATN4):c.139C>T (p.Pro47Ser)	MATN4 (P47S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716246	NM_001393530.1(MATN4):c.95C>T (p.Pro32Leu)	MATN4 (P32L)	Single nucleotide variant (missense variant)	MATN4-related disorder +1 more	GBenign/Likely benign
Select item 2281518	NM_001393530.1(MATN4):c.89C>A (p.Thr30Asn)	MATN4 (T30N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 146648	GRCh38/hg38 20q13.12(chr20:45304962-45374661)x3	LOC130065956, LOC130065957 +11 more	Copy number gain	See cases	GBenign
Select item 2336992	NM_001393530.1(MATN4):c.22C>G (p.Pro8Ala)	MATN4 (P8A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546059	NM_014276.4(RBPJL):c.13G>A (p.Gly5Arg)	MATN4, RBPJL (G5R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 444107	NM_014276.4(RBPJL):c.23-481C>G	MATN4, RBPJL	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GBenign
Select item 2593288	NM_014276.4(RBPJL):c.100G>A (p.Asp34Asn)	MATN4, RBPJL (D34N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312028	NM_014276.4(RBPJL):c.116C>G (p.Pro39Arg)	MATN4, RBPJL (P39R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3248279	NC_000020.10:g.(?_42223339)_(45362473_?)del	GTSF1L, HNF4A +72 more	Deletion	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 2425559	NC_000020.10:g.(?_42223339)_(44638757_?)del	GDAP1L1, GTSF1L +60 more	Deletion	Combined immunodeficiency due to STK4 deficiency	GPathogenic
Select item 1330181	GRCh37/hg19 20q13.12-13.13(chr20:42985044-48599046)x1	PREX1, PTGIS +79 more	Copy number loss	Developmental and epileptic encephalopathy, 26	GPathogenic
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 685400	GRCh37/hg19 20q13.12(chr20:43886036-43950837)x1	MATN4, RBPJL	Copy number loss	not provided	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic

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Items: 78