ClinVar for OMIM (Select 219500) - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1033458	NM_001902.6(CTH):c.1064del (p.Thr355fs)	CTH (T323fs +2 more)	Deletion (frameshift variant)	Cystathioninuria	GPathogenic
Select item 876362	NM_001902.6(CTH):c.*588C>T	CTH	Single nucleotide variant (3 prime UTR variant)	Cystathioninuria	GUncertain significance
Select item 876361	NM_001902.6(CTH):c.*546G>A	CTH	Single nucleotide variant (3 prime UTR variant)	Cystathioninuria	GUncertain significance
Select item 876320	NM_001902.6(CTH):c.129G>A (p.Leu43=)	CTH	Single nucleotide variant (synonymous variant)	Cystathioninuria +1 more	GLikely benign
Select item 876319	NM_001902.6(CTH):c.15C>A (p.Asp5Glu)	CTH (D5E)	Single nucleotide variant (missense variant)	Cystathioninuria +1 more	GUncertain significance
Select item 876230	NM_001902.6(CTH):c.*522T>A	CTH	Single nucleotide variant (3 prime UTR variant)	Cystathioninuria	GUncertain significance
Select item 876229	NM_001902.6(CTH):c.*513T>A	CTH	Single nucleotide variant (3 prime UTR variant)	Cystathioninuria	GUncertain significance
Select item 876228	NM_001902.6(CTH):c.*411G>C	CTH	Single nucleotide variant (3 prime UTR variant)	Cystathioninuria	GUncertain significance
Select item 875274	NM_001902.6(CTH):c.*336A>G	CTH	Single nucleotide variant (3 prime UTR variant)	Cystathioninuria	GUncertain significance
Select item 875273	NM_001902.6(CTH):c.*217G>T	CTH	Single nucleotide variant (3 prime UTR variant)	Cystathioninuria	GUncertain significance
Select item 874405	NM_001902.6(CTH):c.*693G>T	CTH	Single nucleotide variant (3 prime UTR variant)	Cystathioninuria	GUncertain significance
Select item 874404	NM_001902.6(CTH):c.*681G>A	CTH	Single nucleotide variant (3 prime UTR variant)	Cystathioninuria	GUncertain significance
Select item 874350	NM_001902.6(CTH):c.816C>T (p.Asn272=)	CTH	Single nucleotide variant (synonymous variant)	Cystathioninuria	GUncertain significance
Select item 874349	NM_001902.6(CTH):c.794G>T (p.Arg265Leu)	CTH (R221L +2 more)	Single nucleotide variant (missense variant)	Cystathioninuria	GUncertain significance
Select item 874348	NM_001902.6(CTH):c.724+10A>G	CTH	Single nucleotide variant (intron variant)	Cystathioninuria	GUncertain significance
Select item 874347	NM_001902.6(CTH):c.710G>T (p.Arg237Leu)	CTH (R193L +2 more)	Single nucleotide variant (missense variant)	Cystathioninuria	GUncertain significance
Select item 874346	NM_001902.6(CTH):c.685T>C (p.Cys229Arg)	CTH (C185R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 874345	NM_001902.6(CTH):c.647-15G>C	CTH	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 631617	NM_001902.6(CTH):c.1052+1G>C	CTH	Single nucleotide variant (splice donor variant)	Cystathioninuria	GUncertain significance
Select item 631616	NM_001902.6(CTH):c.1052+1G>A	CTH	Single nucleotide variant (splice donor variant)	Cystathioninuria	GUncertain significance
Select item 631615	NM_001902.6(CTH):c.465G>A (p.Trp155Ter)	CTH (W155* +1 more)	Single nucleotide variant (nonsense +1 more)	Cystathioninuria	GUncertain significance
Select item 368879	NM_001902.5(CTH):c.*735G>A	CTH	Single nucleotide variant (genic downstream transcript variant)	not provided +1 more	GLikely benign
Select item 298056	NM_001902.6(CTH):c.*632G>A	CTH	Single nucleotide variant (3 prime UTR variant)	Cystathioninuria	GUncertain significance
Select item 298055	NM_001902.6(CTH):c.*631C>T	CTH	Single nucleotide variant (3 prime UTR variant)	Cystathioninuria	GUncertain significance
Select item 298054	NM_001902.6(CTH):c.*630G>A	CTH	Single nucleotide variant (3 prime UTR variant)	Cystathioninuria	GUncertain significance
Select item 298053	NM_001902.6(CTH):c.*592C>T	CTH	Single nucleotide variant (3 prime UTR variant)	Cystathioninuria +1 more	GBenign
Select item 298052	NM_001902.6(CTH):c.*587G>A	CTH	Single nucleotide variant (3 prime UTR variant)	Cystathioninuria	GUncertain significance
Select item 298051	NM_001902.6(CTH):c.*545C>T	CTH	Single nucleotide variant (3 prime UTR variant)	Cystathioninuria	GUncertain significance
Select item 298050	NM_001902.6(CTH):c.*544G>A	CTH	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 298049	NM_001902.6(CTH):c.*527A>T	CTH	Single nucleotide variant (3 prime UTR variant)	Cystathioninuria	GUncertain significance
Select item 298048	NM_001902.6(CTH):c.*523A>T	CTH	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 298047	NM_001902.6(CTH):c.522_523insTAA	CTH	Insertion (3 prime UTR variant)	Cystathioninuria	GUncertain significance
Select item 298046	NM_001902.6(CTH):c.*389T>C	CTH	Single nucleotide variant (3 prime UTR variant)	Cystathioninuria	GLikely benign
Select item 298045	NM_001902.6(CTH):c.*371G>A	CTH	Single nucleotide variant (3 prime UTR variant)	Cystathioninuria	GUncertain significance
Select item 298044	NM_001902.6(CTH):c.*370C>T	CTH	Single nucleotide variant (3 prime UTR variant)	Cystathioninuria	GUncertain significance
Select item 298043	NM_001902.6(CTH):c.*334T>A	CTH	Single nucleotide variant (3 prime UTR variant)	Cystathioninuria	GUncertain significance
Select item 298042	NM_001902.6(CTH):c.*260T>C	CTH	Single nucleotide variant (3 prime UTR variant)	Cystathioninuria	GUncertain significance
Select item 298041	NM_001902.6(CTH):c.*98G>A	CTH	Single nucleotide variant (3 prime UTR variant)	Cystathioninuria	GUncertain significance
Select item 298040	NM_001902.6(CTH):c.1191+15TG[18]	CTH	Microsatellite (intron variant)	Cystathioninuria	GLikely benign
Select item 298039	NM_001902.6(CTH):c.1191+15TG[17]	CTH	Microsatellite (intron variant)	not provided +1 more	GLikely benign
Select item 298038	NM_001902.6(CTH):c.1191+15TG[16]	CTH	Microsatellite (intron variant)	not provided +1 more	GLikely benign
Select item 298037	NM_001902.6(CTH):c.1033G>A (p.Glu345Lys)	CTH (E345K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 298036	NM_001902.6(CTH):c.995T>C (p.Leu332Pro)	CTH (L332P +2 more)	Single nucleotide variant (missense variant)	Cystathioninuria	GUncertain significance
Select item 298035	NM_001902.6(CTH):c.864G>A (p.Lys288=)	CTH	Single nucleotide variant (synonymous variant)	Cystathioninuria +1 more	GConflicting classifications of pathogenicity
Select item 298034	NM_001902.6(CTH):c.589-3C>T	CTH	Single nucleotide variant (intron variant)	Cystathioninuria	GUncertain significance
Select item 298033	NM_001902.6(CTH):c.541G>A (p.Asp181Asn)	CTH (D181N +1 more)	Single nucleotide variant (missense variant +1 more)	Cystathioninuria +1 more	GUncertain significance
Select item 298032	NM_001902.6(CTH):c.495G>T (p.Lys165Asn)	CTH (K165N +1 more)	Single nucleotide variant (missense variant +1 more)	Cystathioninuria	GUncertain significance
Select item 298031	NM_001902.6(CTH):c.430G>C (p.Glu144Gln)	CTH (E144Q +1 more)	Single nucleotide variant (missense variant)	Cystathioninuria	GUncertain significance
Select item 298030	NM_001902.6(CTH):c.381A>G (p.Glu127=)	CTH	Single nucleotide variant (synonymous variant)	Cystathioninuria	GUncertain significance
Select item 298029	NM_001902.6(CTH):c.346+7G>A	CTH	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 298028	NM_001902.6(CTH):c.-3A>G	CTH	Single nucleotide variant (5 prime UTR variant)	Cystathioninuria	GUncertain significance
Select item 298027	NM_001902.6(CTH):c.-140A>T	CTH, LOC129930756	Single nucleotide variant (5 prime UTR variant)	Cystathioninuria +1 more	GLikely benign
Select item 298026	NM_001902.5(CTH):c.-151T>C	CTH, LOC129930756	Single nucleotide variant	Cystathioninuria	GUncertain significance
Select item 225330	NM_001902.6(CTH):c.793C>T (p.Arg265Ter)	CTH (R233* +2 more)	Single nucleotide variant (nonsense)	Cystathioninuria	GLikely pathogenic
Select item 2941	NM_001902.6(CTH):c.1208G>T (p.Ser403Ile)	CTH (S403I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2940	NM_001902.6(CTH):c.718C>G (p.Gln240Glu)	CTH (Q240E +2 more)	Single nucleotide variant (missense variant)	Cystathioninuria	GPathogenic
Select item 2939	NM_001902.6(CTH):c.200C>T (p.Thr67Ile)	CTH (T67I)	Single nucleotide variant (missense variant)	Cystathioninuria +1 more	GConflicting classifications of pathogenicity
Select item 2937	NM_001902.6(CTH):c.784_785del (p.Leu262fs)	CTH (L218fs +2 more)	Microsatellite (frameshift variant)	Cystathioninuria	GPathogenic

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Links from OMIM

Items: 58