ClinVar for MedGen (Select 902629) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062262	NM_147191.1(MMP21):c.614G>A (p.Trp205Ter)	MMP21 (W205*)	Single nucleotide variant (nonsense)	Heterotaxy, visceral, 7, autosomal	GLikely pathogenic
Select item 2920762	NM_147191.1(MMP21):c.486C>T (p.Tyr162=)	MMP21	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 7, autosomal	GBenign
Select item 2507422	NM_147191.1(MMP21):c.626C>G (p.Thr209Arg)	MMP21 (T209R)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 7, autosomal	GUncertain significance
Select item 2507421	NM_147191.1(MMP21):c.1303del (p.Ser435fs)	MMP21 (S435fs)	Deletion (frameshift variant)	Heterotaxy, visceral, 7, autosomal	GLikely pathogenic
Select item 2433766	NM_147191.1(MMP21):c.1517T>C (p.Ile506Thr)	MMP21 (I506T)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 7, autosomal	GUncertain significance
Select item 1027777	NM_147191.1(MMP21):c.890C>T (p.Thr297Met)	MMP21 (T297M)	Single nucleotide variant (missense variant)	MMP21-related condition +1 more	GUncertain significance
Select item 1027776	NM_147191.1(MMP21):c.1123C>T (p.Arg375Cys)	MMP21 (R375C)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 7, autosomal	GUncertain significance
Select item 976665	NM_147191.1(MMP21):c.281G>C (p.Arg94Pro)	MMP21 (R94P)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 7, autosomal	GLikely pathogenic
Select item 766775	NM_147191.1(MMP21):c.697+10C>G	MMP21	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 545548	NM_147191.1(MMP21):c.557G>T (p.Ser186Ile)	MMP21 (S186I)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 7, autosomal	GLikely pathogenic
Select item 545547	NM_147191.1(MMP21):c.643G>A (p.Glu215Lys)	MMP21 (E215K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 279945	NM_147191.1(MMP21):c.240dup (p.Lys81fs)	MMP21 (K81fs)	Duplication (frameshift variant)	Heterotaxy, visceral, 7, autosomal +2 more	GPathogenic/Likely pathogenic
Select item 265317	NM_147191.1(MMP21):c.1372C>T (p.Arg458Ter)	MMP21 (R458*)	Single nucleotide variant (nonsense)	Heterotaxy, visceral, 7, autosomal +2 more	GPathogenic/Likely pathogenic