Related gene-specific medical variations for Gene (Select 5648) - ClinVar

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Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3123740	NM_139125.4(MASP1):c.53C>T (p.Ser18Leu)	LOC108281160, MASP1 (S18L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068250	NM_139125.4(MASP1):c.415+19_415+20del	MASP1	Deletion (intron variant)	3MC syndrome 1	GUncertain significance
Select item 3065657	NM_001879.6(MASP1):c.1943G>T (p.Gly648Val)	MASP1 (G648V)	Single nucleotide variant (missense variant)	3MC syndrome 1	GUncertain significance
Select item 2445991	NM_139125.4(MASP1):c.73A>T (p.Asn25Tyr)	LOC108281160, MASP1 (N25Y)	Single nucleotide variant (missense variant)	3MC syndrome 1	GUncertain significance
Select item 2433646	NM_139125.4(MASP1):c.773C>T (p.Pro258Leu)	MASP1 (P258L)	Single nucleotide variant (missense variant +1 more)	3MC syndrome 1	GUncertain significance
Select item 2404771	NM_139125.4(MASP1):c.35T>C (p.Phe12Ser)	LOC108281160, MASP1 (F12S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308285	NM_139125.4(MASP1):c.186C>G (p.Phe62Leu)	LOC108281160, MASP1 (F62L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260676	NM_139125.4(MASP1):c.137T>C (p.Val46Ala)	LOC108281160, MASP1 (V46A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1328892	NM_139125.4(MASP1):c.6-133C>G	LOC108281160, MASP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246637	NM_139125.4(MASP1):c.6-339A>G	LOC108281160, MASP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243919	NM_139125.4(MASP1):c.5+44C>T	LOC101929130, MASP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238324	NM_139125.4(MASP1):c.5+240C>T	LOC101929130, MASP1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1228870	NM_139125.4(MASP1):c.5+65G>C	LOC101929130, MASP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212194	NM_139125.4(MASP1):c.-66G>A	LOC101929130, MASP1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1199031	NM_139125.4(MASP1):c.5+210C>T	LOC101929130, MASP1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1184909	NM_139125.4(MASP1):c.686del (p.Glu229fs)	MASP1 (E229fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1164250	NM_139125.4(MASP1):c.5+4C>T	LOC101929130, MASP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1037785	NM_139125.4(MASP1):c.49G>T (p.Ala17Ser)	LOC108281160, MASP1 (A17S)	Single nucleotide variant (missense variant)	3MC syndrome 1	GUncertain significance
Select item 932000	NM_139125.4(MASP1):c.1492dup (p.Val498fs)	MASP1 (V498fs)	Duplication (frameshift variant +2 more)	3MC syndrome 1	GLikely pathogenic
Select item 931999	NM_139125.4(MASP1):c.992_993del (p.Thr331fs)	MASP1 (T331fs)	Microsatellite (frameshift variant +1 more)	3MC syndrome 1	GLikely pathogenic
Select item 931653	NM_001879.6(MASP1):c.1809+1G>A	MASP1	Single nucleotide variant (splice donor variant)	3MC syndrome 1	GLikely pathogenic
Select item 840149	NM_139125.4(MASP1):c.125G>A (p.Ser42Asn)	LOC108281160, MASP1 (S42N)	Single nucleotide variant (missense variant)	3MC syndrome 1	GUncertain significance
Select item 813674	NM_139125.4(MASP1):c.1609G>C (p.Ala537Pro)	MASP1 (A537P)	Single nucleotide variant (missense variant +2 more)	Microcephaly	GUncertain significance
Select item 702560	NM_139125.4(MASP1):c.64G>A (p.Val22Met)	LOC108281160, MASP1 (V22M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 636654	NM_139125.4(MASP1):c.1732G>C (p.Glu578Gln)	MASP1 (E578Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 636358	NM_001879.6(MASP1):c.2074C>T (p.Gln692Ter)	MASP1 (Q692*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 594589	NM_139125.4(MASP1):c.7T>C (p.Trp3Arg)	MASP1, LOC108281160 (W3R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 547927	NM_139125.4(MASP1):c.59A>G (p.His20Arg)	LOC108281160, MASP1 (H20R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 288757	NM_139125.4(MASP1):c.103G>T (p.Gly35Cys)	LOC108281160, MASP1 (G35C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Links from Gene

Items: 29