ClinVar for MedGen (Select 1635470) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3069105	NM_001286577.2(C2CD3):c.2_9del (p.Met1fs)	C2CD3 (M1fs)	Deletion (frameshift variant +1 more)	Orofaciodigital syndrome type 14	GLikely pathogenic
Select item 2688695	NM_001286577.2(C2CD3):c.5784C>A (p.Asp1928Glu)	C2CD3, LOC126861262 (D1928E)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome type 14	GUncertain significance
Select item 2585642	NM_001286577.2(C2CD3):c.2720A>G (p.Tyr907Cys)	C2CD3 (Y907C)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome type 14	GLikely pathogenic
Select item 2585641	NM_001286577.2(C2CD3):c.1730G>A (p.Arg577His)	C2CD3 (R577H)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome type 14	GLikely pathogenic
Select item 2584953	NM_001286577.2(C2CD3):c.1048C>G (p.His350Asp)	C2CD3 (H350D)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome type 14	GUncertain significance
Select item 2504061	NM_001286577.2(C2CD3):c.3345-1G>A	C2CD3	Single nucleotide variant (splice acceptor variant)	Orofaciodigital syndrome type 14	GLikely pathogenic
Select item 1955116	NM_001286577.2(C2CD3):c.3182G>C (p.Arg1061Thr)	C2CD3 (R1061T)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome type 14 +1 more	GUncertain significance
Select item 1878236	NM_001286577.2(C2CD3):c.2969_2972delinsGGTTTACA (p.Ser990fs)	C2CD3 (S990fs)	Indel (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1805478	NM_001286577.2(C2CD3):c.6807G>T (p.Leu2269=)	C2CD3	Single nucleotide variant (synonymous variant)	Orofaciodigital syndrome type 14	GUncertain significance
Select item 1679843	NM_001286577.2(C2CD3):c.3967G>T (p.Val1323Phe)	C2CD3 (V1323F)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome type 14	GUncertain significance
Select item 1404581	NM_001286577.2(C2CD3):c.3742C>T (p.Arg1248Cys)	C2CD3 (R1248C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1395745	NM_001286577.2(C2CD3):c.5495+4A>G	C2CD3	Single nucleotide variant (intron variant)	Orofaciodigital syndrome type 14 +1 more	GUncertain significance
Select item 1323994	NM_001286577.2(C2CD3):c.1962+2T>A	C2CD3	Single nucleotide variant (splice donor variant)	Orofaciodigital syndrome type 14	GLikely pathogenic
Select item 1213728	NM_001286577.2(C2CD3):c.6001del (p.Cys2001fs)	C2CD3 (C2001fs)	Deletion (frameshift variant)	Orofaciodigital syndrome type 14 +1 more	GConflicting classifications of pathogenicity
Select item 1194018	NM_001286577.2(C2CD3):c.5882-332A>G	C2CD3	Single nucleotide variant (intron variant +1 more)	Orofaciodigital syndrome type 14 +1 more	GUncertain significance
Select item 1192632	NM_001286577.2(C2CD3):c.3910+55A>G	C2CD3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1192631	NM_001286577.2(C2CD3):c.4923A>G (p.Val1641=)	C2CD3	Single nucleotide variant (synonymous variant)	Orofaciodigital syndrome type 14 +1 more	GBenign
Select item 1075627	NM_001286577.2(C2CD3):c.1861C>T (p.Arg621Ter)	C2CD3 (R621*)	Single nucleotide variant (nonsense)	Orofaciodigital syndrome type 14 +1 more	GPathogenic/Likely pathogenic
Select item 1072108	NM_001286577.2(C2CD3):c.994dup (p.Val332fs)	C2CD3 (V332fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1033366	NM_001286577.2(C2CD3):c.3650C>G (p.Ala1217Gly)	C2CD3 (A1217G)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome type 14 +1 more	GConflicting classifications of pathogenicity
Select item 1030511	NM_001286577.2(C2CD3):c.2704C>A (p.Pro902Thr)	C2CD3 (P902T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 931443	NM_001286577.2(C2CD3):c.2220G>A (p.Met740Ile)	C2CD3 (M740I)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome type 14	GUncertain significance
Select item 828029	NM_001286577.2(C2CD3):c.185G>C (p.Arg62Pro)	C2CD3 (R62P)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome type 14	GUncertain significance
Select item 828028	NM_001286577.2(C2CD3):c.5929C>T (p.Arg1977Ter)	C2CD3 (R1977*)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 802699	NM_001286577.2(C2CD3):c.5500G>T (p.Asp1834Tyr)	C2CD3 (D1834Y)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome type 14	GUncertain significance
Select item 800804	NM_001286577.2(C2CD3):c.195G>C (p.Trp65Cys)	C2CD3 (W65C)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome type 14	GUncertain significance
Select item 800747	NM_001286577.2(C2CD3):c.4658G>A (p.Arg1553Gln)	C2CD3 (R1553Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 625150	NM_001286577.2(C2CD3):c.5090+5G>C	C2CD3	Single nucleotide variant (intron variant)	Orofaciodigital syndrome type 14	GPathogenic
Select item 625149	NM_001286577.2(C2CD3):c.1365+1G>A	C2CD3	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 599461	NM_001286577.2(C2CD3):c.704C>T (p.Pro235Leu)	C2CD3 (P235L)	Single nucleotide variant (missense variant)	C2CD3-related condition +4 more	GBenign/Likely benign
Select item 548589	NM_001286577.2(C2CD3):c.6968G>A (p.Arg2323His)	C2CD3 (R2323H)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome type 14 +1 more	GConflicting classifications of pathogenicity
Select item 144040	NM_001286577.2(C2CD3):c.3911-2A>T	C2CD3	Single nucleotide variant (splice acceptor variant)	Orofaciodigital syndrome type 14 +1 more	GPathogenic/Likely pathogenic
Select item 144039	NM_001286577.2(C2CD3):c.3085T>G (p.Cys1029Gly)	C2CD3 (C1029G)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome type 14	GPathogenic
Select item 144038	NM_001286577.2(C2CD3):c.184C>T (p.Arg62Ter)	C2CD3 (R62*)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis	GPathogenic

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Items: 34