ClinVar for MedGen (Select 903483) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2500796	NM_015425.6(POLR1A):c.190del (p.Cys64fs)	POLR1A (C64fs)	Deletion (frameshift variant)	Acrofacial dysostosis Cincinnati type	GLikely pathogenic
Select item 2435154	NM_015425.6(POLR1A):c.4501C>T (p.Arg1501Trp)	POLR1A (R1501W)	Single nucleotide variant (missense variant)	Acrofacial dysostosis Cincinnati type	GUncertain significance
Select item 2435153	NM_015425.6(POLR1A):c.1846C>T (p.Gln616Ter)	POLR1A, LOC126806264 (Q616*)	Single nucleotide variant (nonsense)	Acrofacial dysostosis Cincinnati type	GUncertain significance
Select item 2431838	NM_015425.6(POLR1A):c.1612-3dup	LOC126806264, POLR1A	Duplication (intron variant)	Acrofacial dysostosis Cincinnati type	GUncertain significance
Select item 2084670	NM_015425.6(POLR1A):c.1106C>G (p.Ala369Gly)	POLR1A (A369G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1333986	NM_015425.6(POLR1A):c.1543C>T (p.Arg515Ter)	POLR1A (R515*)	Single nucleotide variant (nonsense)	Acrofacial dysostosis Cincinnati type	GUncertain significance
Select item 1268172	NM_015425.6(POLR1A):c.4273-26A>C	POLR1A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1231155	NM_015425.6(POLR1A):c.2634+22T>C	POLR1A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1170142	NM_015425.6(POLR1A):c.1258-19A>G	POLR1A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1169916	NM_015425.6(POLR1A):c.448C>G (p.Pro150Ala)	POLR1A (P150A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1169915	NM_015425.6(POLR1A):c.678G>A (p.Thr226=)	POLR1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1168268	NM_015425.6(POLR1A):c.77+14C>T	POLR1A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1167922	NM_015425.6(POLR1A):c.4224G>A (p.Gly1408=)	POLR1A	Single nucleotide variant (synonymous variant)	Acrofacial dysostosis Cincinnati type +1 more	GBenign
Select item 1029398	NM_015425.6(POLR1A):c.4034+1G>T	POLR1A	Single nucleotide variant (splice donor variant)	Acrofacial dysostosis Cincinnati type	GUncertain significance
Select item 983035	NM_015425.6(POLR1A):c.1967T>C (p.Leu656Pro)	POLR1A (L656P)	Single nucleotide variant (missense variant)	Acrofacial dysostosis Cincinnati type	GUncertain significance
Select item 779225	NM_015425.6(POLR1A):c.473G>C (p.Arg158Pro)	POLR1A (R158P)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 774163	NM_015425.6(POLR1A):c.1511G>A (p.Arg504His)	POLR1A (R504H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 626284	NM_015425.6(POLR1A):c.2527C>T (p.Arg843Ter)	POLR1A (R843*)	Single nucleotide variant (nonsense)	Acrofacial dysostosis Cincinnati type	GPathogenic
Select item 592105	NM_015425.6(POLR1A):c.253C>T (p.Leu85Phe)	POLR1A (L85F)	Single nucleotide variant (missense variant)	Acrofacial dysostosis Cincinnati type	GUncertain significance
Select item 421393	NM_015425.6(POLR1A):c.4685G>T (p.Cys1562Phe)	POLR1A (C1562F)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 421169	NM_015425.6(POLR1A):c.3988_3990del (p.Glu1330del)	POLR1A (E1330del)	Deletion (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 203464	NM_015425.6(POLR1A):c.3649del (p.Gln1217fs)	POLR1A (Q1217fs)	Deletion (frameshift variant)	Acrofacial dysostosis Cincinnati type	GPathogenic
Select item 203463	NM_015425.6(POLR1A):c.1777G>C (p.Glu593Gln)	LOC126806264, POLR1A (E593Q)	Single nucleotide variant (missense variant)	Acrofacial dysostosis Cincinnati type	GPathogenic

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Items: 23