Related gene-specific medical variations for Gene (Select 26005) - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360765	NM_001286577.2(C2CD3):c.719A>G (p.His240Arg)	C2CD3 (H240R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360764	NM_001286577.2(C2CD3):c.4325A>G (p.Tyr1442Cys)	C2CD3 (Y1442C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3244775	NC_000011.9:g.(?_73820059)_(73820217_?)del	C2CD3	Deletion	not provided	GPathogenic
Select item 3135879	NM_001286577.2(C2CD3):c.889G>C (p.Ala297Pro)	C2CD3, LOC121392929 (A297P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2965399	NM_001286577.2(C2CD3):c.5661-26TCT[2]	C2CD3, LOC126861262	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2910279	NM_001286577.2(C2CD3):c.5696A>G (p.Tyr1899Cys)	C2CD3, LOC126861262 (Y1899C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2902863	NM_001286577.2(C2CD3):c.5796A>G (p.Pro1932=)	C2CD3, LOC126861262	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899840	NM_001286577.2(C2CD3):c.850C>T (p.Leu284=)	C2CD3, LOC121392929	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2855644	NM_001286577.2(C2CD3):c.764_765del (p.Phe255fs)	C2CD3, LOC121392929 (F255fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2835039	NM_001286577.2(C2CD3):c.5881+8T>C	C2CD3, LOC126861262	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2814169	NM_001286577.2(C2CD3):c.5817T>A (p.Pro1939=)	C2CD3, LOC126861262	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2811417	NM_001286577.2(C2CD3):c.5823C>T (p.Ser1941=)	C2CD3, LOC126861262	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2803526	NM_001286577.2(C2CD3):c.777C>T (p.His259=)	C2CD3, LOC121392929	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2790430	NM_001286577.2(C2CD3):c.5748A>G (p.Gln1916=)	LOC126861262, C2CD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2787275	NM_001286577.2(C2CD3):c.5814C>T (p.Asp1938=)	C2CD3, LOC126861262	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2611719	NM_001286577.2(C2CD3):c.5710C>G (p.Leu1904Val)	C2CD3, LOC126861262 (L1904V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2581780	NM_001286577.2(C2CD3):c.955+1G>A	C2CD3, LOC121392929	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2546954	NM_001286577.2(C2CD3):c.844T>A (p.Ser282Thr)	C2CD3, LOC121392929 (S282T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511193	NM_001286577.2(C2CD3):c.5815C>T (p.Pro1939Ser)	C2CD3, LOC126861262 (P1939S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493486	NM_001286577.2(C2CD3):c.5672G>A (p.Ser1891Asn)	C2CD3, LOC126861262 (S1891N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2419484	NM_001286577.2(C2CD3):c.5720C>T (p.Pro1907Leu)	C2CD3, LOC126861262 (P1907L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2189357	NM_001286577.2(C2CD3):c.5751G>A (p.Thr1917=)	C2CD3, LOC126861262	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2118875	NM_001286577.2(C2CD3):c.5881+3A>G	C2CD3, LOC126861262	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2071096	NM_001286577.2(C2CD3):c.5702G>A (p.Arg1901His)	LOC126861262, C2CD3 (R1901H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2051076	NM_001286577.2(C2CD3):c.5661-14C>T	C2CD3, LOC126861262	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1985822	NM_001286577.2(C2CD3):c.5820G>C (p.Gly1940=)	C2CD3, LOC126861262	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1946973	NM_001286577.2(C2CD3):c.5661-10T>C	C2CD3, LOC126861262	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1934893	NM_001286577.2(C2CD3):c.5703C>T (p.Arg1901=)	C2CD3, LOC126861262	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1923082	NM_001286577.2(C2CD3):c.847C>T (p.Leu283Phe)	C2CD3, LOC121392929 (L283F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1910492	NM_001286577.2(C2CD3):c.5749dup (p.Thr1917fs)	C2CD3, LOC126861262 (T1917fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1908587	NM_001286577.2(C2CD3):c.5781G>T (p.Arg1927Ser)	C2CD3, LOC126861262 (R1927S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1896196	NM_001286577.2(C2CD3):c.5661-13C>G	C2CD3, LOC126861262	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1717302	NM_001286577.2(C2CD3):c.773A>T (p.Gln258Leu)	C2CD3, LOC121392929 (Q258L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1672570	NM_001286577.2(C2CD3):c.5769G>A (p.Gln1923=)	C2CD3, LOC126861262	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1630978	NM_001286577.2(C2CD3):c.5881+14C>T	C2CD3, LOC126861262	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1627736	NM_001286577.2(C2CD3):c.5661-9T>G	C2CD3, LOC126861262	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1583232	NM_001286577.2(C2CD3):c.955+11A>G	C2CD3, LOC121392929	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1557303	NM_001286577.2(C2CD3):c.946C>G (p.Leu316Val)	C2CD3, LOC121392929 (L316V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1555567	NM_001286577.2(C2CD3):c.5661-13C>T	C2CD3, LOC126861262	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1479972	NM_001286577.2(C2CD3):c.955+3A>G	C2CD3, LOC121392929	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1430504	NM_001286577.2(C2CD3):c.817A>G (p.Lys273Glu)	C2CD3, LOC121392929 (K273E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1421732	NM_001286577.2(C2CD3):c.869A>G (p.Gln290Arg)	C2CD3, LOC121392929 (Q290R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1406880	NM_001286577.2(C2CD3):c.785A>T (p.Asn262Ile)	C2CD3, LOC121392929 (N262I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 1375386	NM_001286577.2(C2CD3):c.5819G>A (p.Gly1940Glu)	C2CD3, LOC126861262 (G1940E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1371909	NM_001286577.2(C2CD3):c.832C>T (p.Arg278Trp)	C2CD3, LOC121392929 (R278W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 1355428	NM_001286577.2(C2CD3):c.5731C>G (p.Leu1911Val)	C2CD3, LOC126861262 (L1911V)	Single nucleotide variant (missense variant)	not provided	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 1288026	NM_001286577.2(C2CD3):c.5881+127dup	C2CD3, LOC126861262	Duplication (intron variant)	not provided	GBenign
Select item 1262980	NM_001286577.2(C2CD3):c.5881+270G>A	C2CD3, LOC126861262	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228470	NM_001286577.2(C2CD3):c.5881+344A>G	C2CD3, LOC126861262	Single nucleotide variant (intron variant)	not provided	GBenign
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 714412	NM_001286577.2(C2CD3):c.840G>A (p.Gln280=)	C2CD3, LOC121392929	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 598992	NM_001286577.2(C2CD3):c.917T>C (p.Leu306Pro)	C2CD3, LOC121392929 (L306P)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 598655	NM_001286577.2(C2CD3):c.5864T>C (p.Val1955Ala)	C2CD3, LOC126861262 (V1955A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 217559	NM_001286577.2(C2CD3):c.4951+1G>T	C2CD3	Single nucleotide variant (splice donor variant)	Familial aplasia of the vermis	GPathogenic

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Links from Gene

Items: 59