ClinVar for MedGen (Select 1635470) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234896	NM_001286577.2(C2CD3):c.5600dup (p.Cys1867fs)	C2CD3 (C1867fs)	Duplication (frameshift variant)	Orofaciodigital syndrome type 14	GLikely pathogenic
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 3014634	NM_001286577.2(C2CD3):c.1996C>T (p.Arg666Ter)	C2CD3 (R666*)	Single nucleotide variant (nonsense)	Orofaciodigital syndrome type 14 +1 more	GPathogenic
Select item 2901729	NM_001286577.2(C2CD3):c.7027C>T (p.Arg2343Trp)	C2CD3 (R2343W)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome type 14 +1 more	GConflicting classifications of pathogenicity
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 2598302	NM_001286577.2(C2CD3):c.1160C>G (p.Thr387Arg)	C2CD3 (T387R)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome type 14 +1 more	GConflicting classifications of pathogenicity
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)	Orofaciodigital syndrome type 14 +2 more	GUncertain significance
Select item 1395745	NM_001286577.2(C2CD3):c.5495+4A>G	C2CD3	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1379150	NM_001286577.2(C2CD3):c.5701C>T (p.Arg1901Cys)	C2CD3, LOC126861262 (R1901C)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome type 14 +1 more	GUncertain significance
Select item 1366317	NM_001286577.2(C2CD3):c.5726T>C (p.Leu1909Pro)	C2CD3, LOC126861262 (L1909P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1366316	NM_001286577.2(C2CD3):c.5728C>G (p.Pro1910Ala)	C2CD3, LOC126861262 (P1910A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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)	not provided +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)	not provided +1 more	GBenign
Select item 1075627	NM_001286577.2(C2CD3):c.1861C>T (p.Arg621Ter)	C2CD3 (R621*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1072108	NM_001286577.2(C2CD3):c.994dup (p.Val332fs)	C2CD3 (V332fs)	Duplication (frameshift variant)	Orofaciodigital syndrome type 14 +1 more	GPathogenic/Likely pathogenic
Select item 1033366	NM_001286577.2(C2CD3):c.3650C>G (p.Ala1217Gly)	C2CD3 (A1217G)	Single nucleotide variant (missense variant)	not provided +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)	Orofaciodigital syndrome type 14 +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)	Orofaciodigital syndrome type 14 +3 more	GBenign/Likely benign
Select item 548589	NM_001286577.2(C2CD3):c.6968G>A (p.Arg2323His)	C2CD3 (R2323H)	Single nucleotide variant (missense variant)	not provided +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 41