Related gene-specific medical variations for Gene (Select 102060414) - ClinVar

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Links from Gene

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3135840	NM_000063.6(C2):c.940C>G (p.Arg314Gly)	C2, C2-AS1 (R285G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076005	NM_000063.6(C2):c.1063C>T (p.Arg355Ter)	C2, C2-AS1 (R109* +4 more)	Single nucleotide variant (nonsense)	Complement component 2 deficiency	GUncertain significance
Select item 2955805	NM_000063.6(C2):c.988+17G>A	C2, C2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2906946	NM_000063.6(C2):c.925C>T (p.Leu309=)	C2, C2-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2841957	NM_000063.6(C2):c.1068C>A (p.Leu356=)	C2, C2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2837543	NM_000063.6(C2):c.954G>A (p.Glu318=)	C2, C2-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2818188	NM_000063.6(C2):c.970G>T (p.Glu324Ter)	C2, C2-AS1 (E324* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2770819	NM_000063.6(C2):c.1005T>G (p.Thr335=)	C2, C2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2750154	NM_000063.6(C2):c.917del (p.Met306fs)	C2, C2-AS1 (M174fs +3 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2415071	NM_000063.6(C2):c.1187T>C (p.Leu396Pro)	C2, C2-AS1 (L150P +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2306883	NM_000063.6(C2):c.1171C>T (p.His391Tyr)	C2, C2-AS1 (H145Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2192515	NM_000063.6(C2):c.1155C>T (p.Pro385=)	C2, C2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2125804	NM_000063.6(C2):c.1016C>A (p.Thr339Asn)	C2-AS1, C2 (T207N +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2121712	NM_000063.6(C2):c.850-20C>T	C2, C2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2116506	NM_000063.6(C2):c.935A>G (p.Asn312Ser)	C2, C2-AS1 (N180S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2112673	NM_000063.6(C2):c.988+13T>A	C2, C2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2109669	NM_000063.6(C2):c.883A>C (p.Ile295Leu)	C2, C2-AS1 (I266L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2007911	NM_000063.6(C2):c.1154C>T (p.Pro385Leu)	C2, C2-AS1 (P171L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1962615	NM_000063.6(C2):c.943G>A (p.Asp315Asn)	C2, C2-AS1 (D286N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1943047	NM_000063.6(C2):c.870T>C (p.Asn290=)	C2, C2-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1937765	NM_000063.6(C2):c.1139A>G (p.Asn380Ser)	C2, C2-AS1 (N166S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1936683	NM_000063.6(C2):c.1219+22_1219+24del	C2, C2-AS1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1932757	NM_000063.6(C2):c.1129+13G>T	C2, C2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1922749	NM_000063.6(C2):c.1127A>G (p.Asp376Gly)	C2, C2-AS1 (D244G +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1909267	NM_000063.6(C2):c.1064G>A (p.Arg355Gln)	C2-AS1, C2 (R355Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1904487	NM_000063.6(C2):c.960C>G (p.Ile320Met)	C2, C2-AS1 (I291M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1669961	NM_000063.6(C2):c.989-9A>G	C2, C2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1632821	NM_000063.6(C2):c.988+16C>T	C2, C2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1618587	NM_000063.6(C2):c.989-7A>G	C2, C2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1616687	NM_000063.6(C2):c.930C>T (p.Asn310=)	C2, C2-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1581493	NM_000063.6(C2):c.873G>T (p.Val291=)	C2, C2-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1552117	NM_000063.6(C2):c.850-8C>T	C2, C2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1549099	NM_000063.6(C2):c.850-6G>A	C2, C2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1512092	NM_000063.6(C2):c.931G>A (p.Asp311Asn)	C2, C2-AS1 (D282N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1460531	NM_000063.6(C2):c.941G>A (p.Arg314Gln)	C2, C2-AS1 (R182Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1426052	NM_000063.6(C2):c.988+4C>T	C2, C2-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1374344	NM_000063.6(C2):c.1201A>C (p.Lys401Gln)	C2, C2-AS1 (K187Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1368077	NM_000063.6(C2):c.1105C>A (p.His369Asn)	C2, C2-AS1 (H237N +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1366639	NM_000063.6(C2):c.966C>A (p.Ser322Arg)	C2, C2-AS1 (S293R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1345842	NM_000063.6(C2):c.1103G>C (p.Arg368Pro)	C2, C2-AS1 (R339P +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1116150	NM_000063.6(C2):c.876C>T (p.Ser292=)	C2, C2-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1087273	NM_000063.6(C2):c.850-7C>T	C2, C2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1080807	NM_000063.6(C2):c.1107T>C (p.His369=)	C2, C2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 907959	NM_000063.6(C2):c.936C>G (p.Asn312Lys)	C2, C2-AS1 (N66K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 907958	NM_000063.6(C2):c.929A>G (p.Asn310Ser)	C2, C2-AS1 (N178S +3 more)	Single nucleotide variant (missense variant +1 more)	Complement component 2 deficiency +2 more	GUncertain significance
Select item 907957	NM_000063.6(C2):c.913C>T (p.Leu305Phe)	C2, C2-AS1 (L276F +3 more)	Single nucleotide variant (missense variant +1 more)	Age related macular degeneration 14 +1 more	GUncertain significance
Select item 905443	NM_000063.6(C2):c.1169A>C (p.Asp390Ala)	C2, C2-AS1 (D144A +4 more)	Single nucleotide variant (missense variant)	C2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 905442	NM_000063.6(C2):c.1109C>T (p.Ala370Val)	C2, C2-AS1 (A370V +4 more)	Single nucleotide variant (missense variant)	Complement component 2 deficiency +2 more	GUncertain significance
Select item 905441	NM_000063.6(C2):c.1082C>T (p.Thr361Met)	C2, C2-AS1 (T229M +4 more)	Single nucleotide variant (missense variant)	Complement component 2 deficiency +1 more	GUncertain significance
Select item 904652	NM_000063.6(C2):c.980A>G (p.Asn327Ser)	C2, C2-AS1 (N298S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 625900	NM_000063.6(C2):c.988+5G>A	C2, C2-AS1	Single nucleotide variant (intron variant)	Age related macular degeneration 14 +1 more	GUncertain significance
Select item 591016	NM_000063.6(C2):c.1102C>T (p.Arg368Ter)	C2, C2-AS1 (R368* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 493427	NM_000063.6(C2):c.1219+7C>T	C2, C2-AS1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 356247	NM_000063.6(C2):c.1130-11C>T	C2, C2-AS1	Single nucleotide variant (intron variant)	Complement component 2 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 356246	NM_000063.6(C2):c.1066C>T (p.Leu356Phe)	C2, C2-AS1 (L356F +4 more)	Single nucleotide variant (missense variant)	Complement component 2 deficiency +1 more	GUncertain significance
Select item 356245	NM_000063.6(C2):c.1023G>A (p.Ala341=)	C2, C2-AS1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 12130	NM_000063.6(C2):c.954G>C (p.Glu318Asp)	C2, C2-AS1 (E318D +3 more)	Single nucleotide variant (missense variant +1 more)	Complement component 2 deficiency +3 more	GBenign/Likely benign

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Links from Gene

Items: 57