ClinVar for MedGen (Select 902629) - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235120	NM_147191.1(MMP21):c.1380_1381del (p.Lys461fs)	MMP21 (K461fs)	Deletion (frameshift variant)	Heterotaxy, visceral, 7, autosomal	GPathogenic
Select item 3235119	NM_147191.1(MMP21):c.854T>C (p.Ile285Thr)	MMP21 (I285T)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 7, autosomal	GPathogenic
Select item 3235118	NM_147191.1(MMP21):c.947G>A (p.Trp316Ter)	MMP21 (W316*)	Single nucleotide variant (nonsense)	Heterotaxy, visceral, 7, autosomal	GPathogenic
Select item 3235117	NM_147191.1(MMP21):c.847C>T (p.His283Tyr)	MMP21 (H283Y)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 7, autosomal	GPathogenic
Select item 3235115	NM_147191.1(MMP21):c.961G>C (p.Ala321Pro)	MMP21 (A321P)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 7, autosomal	GPathogenic
Select item 3235113	NC_000010.11:g.125772345_125778250del	MMP21	Deletion	Heterotaxy, visceral, 7, autosomal	GPathogenic
Select item 3235112	NM_147191.1(MMP21):c.365del (p.Met122fs)	MMP21 (M122fs)	Deletion (frameshift variant)	Heterotaxy, visceral, 7, autosomal	GPathogenic
Select item 3235111	NM_147191.1(MMP21):c.677T>C (p.Ile226Thr)	MMP21 (I226T)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 7, autosomal	GPathogenic
Select item 3235109	NM_147191.1(MMP21):c.1025_1026del (p.Lys342fs)	MMP21 (K342fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 2636982	NM_147191.1(MMP21):c.1A>G (p.Met1Val)	MMP21 (M1V)	Single nucleotide variant (missense variant +1 more)	MMP21-related disorder	GUncertain significance
Select item 2634606	NM_147191.1(MMP21):c.1078C>T (p.Arg360Cys)	MMP21 (R360C)	Single nucleotide variant (missense variant)	MMP21-related disorder	GUncertain significance
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)	Heterotaxy, visceral, 7, autosomal +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)	Heterotaxy, visceral, 7, autosomal +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 289001	NM_147191.1(MMP21):c.1203G>A (p.Trp401Ter)	MMP21 (W401*)	Single nucleotide variant (nonsense)	Visceral heterotaxy +1 more	GLikely pathogenic
Select item 279945	NM_147191.1(MMP21):c.240dup (p.Lys81fs)	MMP21 (K81fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 265317	NM_147191.1(MMP21):c.1372C>T (p.Arg458Ter)	MMP21 (R458*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic

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Items: 25