C0751202[trait identifier] AND "Counsyl"[submitter] - ClinVar

Search results

Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 552526	NM_000071.3(CBS):c.*20T>C	CBS	Single nucleotide variant (splice donor variant +1 more)	Classic homocystinuria	GUncertain significance
Select item 553610	NM_000071.3(CBS):c.*19G>C	CBS	Single nucleotide variant (3 prime UTR variant +1 more)	Classic homocystinuria	GUncertain significance
Select item 553011	NM_000071.3(CBS):c.*19G>A	CBS	Single nucleotide variant (3 prime UTR variant +1 more)	Classic homocystinuria	GUncertain significance
Select item 558255	NM_000071.3(CBS):c.1656A>C (p.Ter552Cys)	CBS	Single nucleotide variant (stop lost)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 124	NM_000071.3(CBS):c.1616T>C (p.Leu539Ser)	CBS (L539S +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more	GLikely pathogenic
Select item 551171	NM_000071.3(CBS):c.1603_1604del (p.Thr535fs)	CBS (T535fs +1 more)	Deletion (frameshift variant)	Classic homocystinuria	GLikely pathogenic
Select item 556910	NM_000071.3(CBS):c.1576C>T (p.Gln526Ter)	CBS (Q526* +1 more)	Single nucleotide variant (nonsense)	Classic homocystinuria +1 more	GPathogenic/Likely pathogenic
Select item 188784	NM_000071.3(CBS):c.1566del (p.Lys523fs)	CBS (K523fs +1 more)	Deletion (frameshift variant)	Homocystinuria +2 more	GPathogenic/Likely pathogenic
Select item 554133	NM_000071.3(CBS):c.1553-1G>C	CBS	Single nucleotide variant (splice acceptor variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more	GLikely pathogenic
Select item 556031	NM_000071.3(CBS):c.1553-2A>C	CBS	Single nucleotide variant (splice acceptor variant)	Classic homocystinuria +1 more	GLikely pathogenic
Select item 554559	NM_000071.3(CBS):c.1552+1G>A	CBS	Single nucleotide variant (splice donor variant)	Classic homocystinuria	GLikely pathogenic
Select item 553823	NM_000071.3(CBS):c.1545del (p.Ile516fs)	CBS (I516fs +1 more)	Deletion (frameshift variant)	Classic homocystinuria	GLikely pathogenic
Select item 499845	NM_000071.3(CBS):c.1498_1499del (p.Ser500fs)	CBS (S395fs +1 more)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 370957	NM_000071.3(CBS):c.1468-1G>A	CBS	Single nucleotide variant (splice acceptor variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more	GLikely pathogenic
Select item 130	NM_000071.3(CBS):c.1397C>T (p.Ser466Leu)	CBS (S466L +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 554614	NM_000071.3(CBS):c.1359-1G>C	CBS	Single nucleotide variant (splice acceptor variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more	GLikely pathogenic
Select item 550598	NM_000071.3(CBS):c.1358+2T>C	CBS	Single nucleotide variant (splice donor variant)	Classic homocystinuria	GLikely pathogenic
Select item 189081	NM_000071.3(CBS):c.1358+1G>A	CBS	Single nucleotide variant (splice donor variant)	Classic homocystinuria +1 more	GPathogenic/Likely pathogenic
Select item 370634	NM_000071.3(CBS):c.1321A>T (p.Lys441Ter)	CBS (K441* +1 more)	Single nucleotide variant (nonsense)	Classic homocystinuria	GPathogenic/Likely pathogenic
Select item 189088	NM_000071.3(CBS):c.1316G>A (p.Arg439Gln)	CBS (R439Q +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 551308	NM_000071.3(CBS):c.1304T>C (p.Ile435Thr)	CBS (I435T +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria	GUncertain significance
Select item 551967	NM_000071.3(CBS):c.1301C>A (p.Thr434Asn)	CBS (T434N +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria	GUncertain significance
Select item 129	NM_000071.3(CBS):c.1265C>T (p.Pro422Leu)	CBS (P422L +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 552926	NM_000071.3(CBS):c.1219_1223+8del	CBS	Deletion (splice donor variant)	Classic homocystinuria	GLikely pathogenic
Select item 495530	NM_000071.3(CBS):c.1221del (p.Trp408fs)	CBS (W303fs +1 more)	Deletion (frameshift variant)	Classic homocystinuria +2 more	GPathogenic/Likely pathogenic
Select item 194150	NM_000071.3(CBS):c.1218del (p.Lys406fs)	CBS (K406fs +1 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 557273	NM_000071.3(CBS):c.1210_1212del (p.Glu404del)	CBS (E404del +1 more)	Deletion (inframe_deletion)	Classic homocystinuria +1 more	GUncertain significance
Select item 188825	NM_000071.3(CBS):c.1136G>A (p.Arg379Gln)	CBS (R379Q +1 more)	Single nucleotide variant (missense variant)	Homocystinuria +3 more	GPathogenic/Likely pathogenic
Select item 212862	NM_000071.3(CBS):c.1111G>A (p.Val371Met)	CBS (V371M +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GPathogenic/Likely pathogenic
Select item 552352	NM_000071.3(CBS):c.1061_1069del (p.Val354_Val356del)	CBS	Deletion (inframe_deletion)	Classic homocystinuria	GUncertain significance
Select item 131	NM_000071.3(CBS):c.1058C>T (p.Thr353Met)	CBS (T353M +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria +4 more	GPathogenic/Likely pathogenic
Select item 188801	NM_000071.3(CBS):c.1039G>A (p.Gly347Ser)	CBS (G347S +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +4 more	GPathogenic/Likely pathogenic
Select item 554464	NM_000071.3(CBS):c.1009_1012del (p.Arg336_Met337insTer)	CBS	Deletion (nonsense)	Classic homocystinuria	GLikely pathogenic
Select item 371147	NM_000071.3(CBS):c.1007G>A (p.Arg336His)	CBS (R336H +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +2 more	GPathogenic/Likely pathogenic
Select item 92423	NM_000071.3(CBS):c.1006C>T (p.Arg336Cys)	CBS (R336C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 550653	NM_000071.3(CBS):c.982G>A (p.Asp328Asn)	CBS (D328N +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria +3 more	GConflicting classifications of pathogenicity
Select item 212856	NM_000071.3(CBS):c.969G>A (p.Trp323Ter)	CBS (W323* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 371028	NM_000071.3(CBS):c.959T>C (p.Val320Ala)	CBS (V320A +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GPathogenic/Likely pathogenic
Select item 556761	NM_000071.3(CBS):c.954+2T>G	CBS	Single nucleotide variant (splice donor variant)	Classic homocystinuria +1 more	GLikely pathogenic
Select item 371568	NM_000071.3(CBS):c.954+1G>A	CBS	Single nucleotide variant (splice donor variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +2 more	GPathogenic/Likely pathogenic
Select item 405378	NM_000071.3(CBS):c.953C>T (p.Thr318Met)	CBS (T318M +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +2 more	GUncertain significance
Select item 370630	NM_000071.3(CBS):c.903C>G (p.Tyr301Ter)	CBS (Y301* +1 more)	Single nucleotide variant (nonsense)	Classic homocystinuria	GLikely pathogenic
Select item 555709	NM_000071.3(CBS):c.862G>A (p.Ala288Thr)	CBS (A288T +1 more)	Single nucleotide variant (missense variant)	Homocystinuria +2 more	GPathogenic/Likely pathogenic
Select item 557534	NM_000071.3(CBS):c.829-1G>C	CBS	Single nucleotide variant (splice acceptor variant)	Classic homocystinuria	GLikely pathogenic
Select item 551402	NM_000071.3(CBS):c.829-11G>T	CBS	Single nucleotide variant (intron variant)	Classic homocystinuria +2 more	GConflicting classifications of pathogenicity
Select item 556952	NM_000071.3(CBS):c.828+1G>A	CBS	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 439461	NM_000071.3(CBS):c.816T>A (p.Cys272Ter)	CBS (C272* +1 more)	Single nucleotide variant (nonsense)	Classic homocystinuria +2 more	GPathogenic/Likely pathogenic
Select item 125	NM_000071.3(CBS):c.797G>A (p.Arg266Lys)	CBS (R266K +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria +4 more	GPathogenic/Likely pathogenic
Select item 198988	NM_000071.3(CBS):c.785C>T (p.Thr262Met)	CBS (T262M +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria +3 more	GPathogenic/Likely pathogenic
Select item 188927	NM_000071.3(CBS):c.770C>T (p.Thr257Met)	CBS (T257M +1 more)	Single nucleotide variant (missense variant)	Homocystinuria +5 more	GPathogenic/Likely pathogenic
Select item 555482	NM_000071.3(CBS):c.752T>C (p.Leu251Pro)	CBS (L251P +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more	GConflicting classifications of pathogenicity
Select item 370105	NM_000071.3(CBS):c.738del	CBS	Deletion (splice acceptor variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +2 more	GPathogenic
Select item 471366	NM_000071.3(CBS):c.737-1G>C	CBS	Single nucleotide variant (splice acceptor variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +3 more	GPathogenic/Likely pathogenic
Select item 371644	NM_000071.3(CBS):c.707_708delinsGGTG (p.Thr236fs)	CBS (T236fs +1 more)	Indel (frameshift variant)	Classic homocystinuria	GLikely pathogenic
Select item 188829	NM_000071.3(CBS):c.689del (p.Leu230fs)	CBS (L230fs +1 more)	Deletion (frameshift variant)	Homocystinuria +3 more	GPathogenic/Likely pathogenic
Select item 553698	NM_000071.3(CBS):c.683A>G (p.Asn228Ser)	CBS (N228S +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +2 more	GPathogenic/Likely pathogenic
Select item 370382	NM_000071.3(CBS):c.676G>A (p.Ala226Thr)	CBS (A226T +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +3 more	GPathogenic/Likely pathogenic
Select item 188911	NM_000071.3(CBS):c.667-14_667-7del	CBS	Deletion (intron variant)	Homocystinuria +3 more	GPathogenic/Likely pathogenic
Select item 557413	NM_000071.3(CBS):c.650C>T (p.Ser217Phe)	CBS (S217F +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria	GUncertain significance
Select item 132	NM_000071.3(CBS):c.572C>T (p.Thr191Met)	CBS (T191M +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria +4 more	GPathogenic/Likely pathogenic
Select item 198388	NM_000071.3(CBS):c.536_553del (p.Asp179_Leu184del)	CBS	Deletion (inframe_deletion)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 556830	NM_000071.3(CBS):c.539T>C (p.Val180Ala)	CBS (V180A +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria	GUncertain significance
Select item 371190	NM_000071.3(CBS):c.467del (p.Leu156fs)	CBS (L51fs +1 more)	Deletion (frameshift variant)	Classic homocystinuria	GLikely pathogenic
Select item 552801	NM_000071.3(CBS):c.451+1G>T	CBS	Single nucleotide variant (splice donor variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +2 more	GLikely pathogenic
Select item 371512	NM_000071.3(CBS):c.442G>A (p.Gly148Arg)	CBS (G148R +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +4 more	GPathogenic/Likely pathogenic
Select item 558326	NM_000071.3(CBS):c.403_404delinsG (p.Thr135fs)	CBS (T30fs +1 more)	Indel (frameshift variant)	Classic homocystinuria +1 more	GLikely pathogenic
Select item 371200	NM_000071.3(CBS):c.402del (p.Thr135fs)	CBS (T135fs +1 more)	Deletion (frameshift variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more	GPathogenic/Likely pathogenic
Select item 212843	NM_000071.3(CBS):c.394C>T (p.Arg132Cys)	CBS (R132C +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria +4 more	GConflicting classifications of pathogenicity
Select item 554230	NM_000071.3(CBS):c.371_374dup (p.Met126fs)	CBS (M126fs +1 more)	Duplication (frameshift variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +2 more	GPathogenic/Likely pathogenic
Select item 197625	NM_000071.3(CBS):c.374G>A (p.Arg125Gln)	CBS (R125Q +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria +3 more	GPathogenic
Select item 340089	NM_000071.3(CBS):c.373C>T (p.Arg125Trp)	CBS (R125W +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria +3 more	GPathogenic/Likely pathogenic
Select item 188787	NM_000071.3(CBS):c.346G>A (p.Gly116Arg)	CBS (G116R +1 more)	Single nucleotide variant (missense variant)	Homocystinuria +2 more	GPathogenic/Likely pathogenic
Select item 119	NM_000071.3(CBS):c.341C>T (p.Ala114Val)	CBS (A114V +1 more)	Single nucleotide variant (missense variant)	Homocystinuria +4 more	GPathogenic/Likely pathogenic
Select item 212878	NM_000071.3(CBS):c.325T>C (p.Cys109Arg)	CBS (C109R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 370129	NM_000071.3(CBS):c.316+1G>A	CBS	Single nucleotide variant (splice donor variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more	GLikely pathogenic
Select item 188989	NM_000071.3(CBS):c.306G>C (p.Lys102Asn)	CBS (K102N)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 189185	NM_000071.3(CBS):c.302T>C (p.Leu101Pro)	CBS (L101P)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +2 more	GPathogenic/Likely pathogenic
Select item 188988	NM_000071.3(CBS):c.233C>G (p.Pro78Arg)	CBS (P78R)	Single nucleotide variant (missense variant)	Classic homocystinuria +3 more	GConflicting classifications of pathogenicity
Select item 554483	NM_000071.3(CBS):c.209+2T>C	CBS	Single nucleotide variant (splice donor variant)	Classic homocystinuria	GLikely pathogenic
Select item 370403	NM_000071.3(CBS):c.209+1G>C	CBS	Single nucleotide variant (splice donor variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more	GPathogenic/Likely pathogenic
Select item 558538	NM_000071.3(CBS):c.153_165del (p.Arg51fs)	CBS (R51fs)	Deletion (frameshift variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +2 more	GPathogenic/Likely pathogenic
Select item 212873	NM_000071.3(CBS):c.162G>A (p.Trp54Ter)	CBS (W54*)	Single nucleotide variant (nonsense)	Classic homocystinuria +2 more	GPathogenic/Likely pathogenic
Select item 212872	NM_000071.3(CBS):c.146C>T (p.Pro49Leu)	CBS (P49L)	Single nucleotide variant (missense variant)	Classic homocystinuria +3 more	GPathogenic/Likely pathogenic
Select item 370517	NM_000071.3(CBS):c.18_36del (p.Glu9fs)	CBS (E9fs)	Deletion (frameshift variant)	Classic homocystinuria	GLikely pathogenic
Select item 281010	NM_000071.3(CBS):c.28del (p.Val10fs)	CBS (V10fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 371345	NM_000071.3(CBS):c.19dup (p.Gln7fs)	CBS (Q7fs)	Duplication (frameshift variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +3 more	GPathogenic

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Items: 86