"PreventionGenetics, part of Exact Sciences"[submitter] AND "MATN4"[ge - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 3037464	NM_001393530.1(MATN4):c.1426+4G>C	MATN4	Single nucleotide variant (intron variant)	MATN4-related disorder	GLikely benign
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 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 3059621	NM_001393530.1(MATN4):c.890-10C>T	MATN4	Single nucleotide variant (intron variant)	MATN4-related disorder	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 3033375	NM_001393530.1(MATN4):c.163C>T (p.Gln55Ter)	MATN4 (Q55*)	Single nucleotide variant (nonsense)	MATN4-related disorder	GLikely benign
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