ClinVar for MedGen (Select 340868) - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1368238	NM_203290.4(POLR1C):c.232C>T (p.Arg78Ter)	POLR1C (R78*)	Single nucleotide variant (nonsense)	Treacher Collins syndrome 3 +2 more	GPathogenic/Likely pathogenic
Select item 1202873	NM_203290.4(POLR1C):c.116C>T (p.Ala39Val)	POLR1C (A39V)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 3 +2 more	GUncertain significance
Select item 1200842	NM_203290.4(POLR1C):c.65G>A (p.Arg22His)	LOC129996517, POLR1C (R22H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 911664	NM_203290.4(POLR1C):c.845C>G (p.Thr282Ser)	POLR1C (T282S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 911663	NM_203290.4(POLR1C):c.639C>G (p.His213Gln)	POLR1C (H213Q)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 3	GUncertain significance
Select item 911662	NM_203290.4(POLR1C):c.585T>C (p.Asp195=)	POLR1C	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 910446	NM_203290.4(POLR1C):c.490G>A (p.Val164Met)	POLR1C (V164M)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 3 +2 more	GConflicting classifications of pathogenicity
Select item 910445	NM_203290.4(POLR1C):c.480C>T (p.Asn160=)	POLR1C	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 910444	NM_203290.4(POLR1C):c.374G>A (p.Arg125Gln)	POLR1C (R125Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 909508	NM_203290.4(POLR1C):c.70G>A (p.Val24Ile)	POLR1C (V24I)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 3	GUncertain significance
Select item 909507	NM_203290.4(POLR1C):c.34A>G (p.Ser12Gly)	LOC129996517, POLR1C (S12G)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 3	GUncertain significance
Select item 909506	NM_203290.4(POLR1C):c.-8G>A	LOC129996517, POLR1C	Single nucleotide variant (5 prime UTR variant)	Treacher Collins syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 909505	NM_203290.4(POLR1C):c.-15G>A	LOC129996517, POLR1C	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 908714	NM_203290.4(POLR1C):c.*166C>T	POLR1C	Single nucleotide variant (3 prime UTR variant +1 more)	Treacher Collins syndrome 3	GUncertain significance
Select item 908713	NM_203290.4(POLR1C):c.*105G>C	POLR1C	Single nucleotide variant (3 prime UTR variant +1 more)	Treacher Collins syndrome 3	GUncertain significance
Select item 761748	NM_203290.4(POLR1C):c.771C>T (p.Phe257=)	POLR1C	Single nucleotide variant (synonymous variant)	Treacher Collins syndrome 3 +2 more	GConflicting classifications of pathogenicity
Select item 724886	NM_203290.4(POLR1C):c.421C>T (p.Arg141Cys)	POLR1C (R141C)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 11 +3 more	GConflicting classifications of pathogenicity
Select item 635152	NM_203290.4(POLR1C):c.938C>T (p.Thr313Met)	POLR1C (T313M)	Single nucleotide variant (missense variant +1 more)	Hypomyelinating leukodystrophy 11 +2 more	GConflicting classifications of pathogenicity
Select item 635151	NM_203290.4(POLR1C):c.916_920del (p.Tyr306fs)	POLR1C (Y306fs)	Deletion (frameshift variant)	Hypomyelinating leukodystrophy 11 +2 more	GPathogenic
Select item 635148	NM_203290.4(POLR1C):c.616del (p.Gln206fs)	POLR1C (Q206fs)	Deletion (frameshift variant)	Hypomyelinating leukodystrophy 11 +1 more	GPathogenic
Select item 635145	NM_203290.4(POLR1C):c.395G>A (p.Gly132Asp)	POLR1C (G132D)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 11 +3 more	GConflicting classifications of pathogenicity
Select item 635143	NM_203290.4(POLR1C):c.325C>T (p.Arg109Cys)	POLR1C (R109C)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 11 +1 more	GConflicting classifications of pathogenicity
Select item 548465	NM_203290.4(POLR1C):c.364T>A (p.Phe122Ile)	POLR1C (F122I)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 11 +1 more	GLikely pathogenic
Select item 375402	NM_203290.4(POLR1C):c.88C>T (p.Pro30Ser)	POLR1C (P30S)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 11 +1 more	GConflicting classifications of pathogenicity
Select item 356882	NM_203290.4(POLR1C):c.*30T>C	POLR1C	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 356881	NM_203290.4(POLR1C):c.913C>A (p.His305Asn)	POLR1C (H305N)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 3	GUncertain significance
Select item 356880	NM_203290.4(POLR1C):c.809A>T (p.Lys270Ile)	POLR1C (K270I)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 3	GUncertain significance
Select item 356879	NM_203290.4(POLR1C):c.656-9C>T	POLR1C	Single nucleotide variant (intron variant)	Treacher Collins syndrome 3 +1 more	GBenign
Select item 356878	NM_203290.4(POLR1C):c.634A>G (p.Met212Val)	POLR1C (M212V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 356877	NM_203290.4(POLR1C):c.598G>A (p.Ala200Thr)	POLR1C (A200T)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 3 +1 more	GUncertain significance
Select item 356876	NM_203290.4(POLR1C):c.561G>A (p.Glu187=)	POLR1C	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 356875	NM_203290.4(POLR1C):c.489C>T (p.Tyr163=)	POLR1C	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 356874	NM_203290.4(POLR1C):c.443G>A (p.Arg148Gln)	POLR1C (R148Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 356873	NM_203290.4(POLR1C):c.229C>T (p.Arg77Ter)	POLR1C (R77*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 356870	NM_203290.4(POLR1C):c.70-7G>C	POLR1C	Single nucleotide variant (intron variant)	Treacher Collins syndrome 3	GUncertain significance
Select item 356868	NM_203290.4(POLR1C):c.-4G>A	POLR1C, LOC129996517	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 356867	NM_203290.4(POLR1C):c.-21A>G	LOC129996517, POLR1C	Single nucleotide variant (5 prime UTR variant)	Treacher Collins syndrome 3	GUncertain significance
Select item 225445	NM_203290.4(POLR1C):c.525del (p.Thr174_Trp175insTer)	POLR1C	Deletion (nonsense)	Hypomyelinating leukodystrophy 11 +1 more	GPathogenic/Likely pathogenic
Select item 204592	NM_203290.4(POLR1C):c.326G>A (p.Arg109His)	POLR1C (R109H)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 3 +2 more	GPathogenic/Likely pathogenic
Select item 30815	NM_203290.4(POLR1C):c.835C>T (p.Arg279Trp)	POLR1C (R279W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 30814	NM_203290.4(POLR1C):c.87del (p.Gly31fs)	POLR1C (G31fs)	Deletion (frameshift variant)	Treacher Collins syndrome 3	GPathogenic
Select item 30813	NM_203290.4(POLR1C):c.979A>T (p.Lys327Ter)	POLR1C (K327*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 30812	NM_203290.4(POLR1C):c.922+3_922+6del	POLR1C	Deletion (splice donor variant)	Treacher Collins syndrome 3	GPathogenic
Select item 30811	NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln)	POLR1C (R279Q)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 11 +4 more	GPathogenic/Likely pathogenic

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Links from MedGen

Items: 44