ClinVar for Gene (Select 55137) - ClinVar

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Links from Gene

Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3278881	NM_018086.4(FIGN):c.1382T>C (p.Leu461Pro)	FIGN (L450P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278880	NM_018086.4(FIGN):c.1075A>G (p.Thr359Ala)	FIGN (T359A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278879	NM_018086.4(FIGN):c.2032T>G (p.Phe678Val)	FIGN (F667V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278878	NM_018086.4(FIGN):c.631C>T (p.Pro211Ser)	FIGN (P211S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095210	NM_018086.4(FIGN):c.946C>T (p.Leu316Phe)	FIGN (L316F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095209	NM_018086.4(FIGN):c.874G>A (p.Gly292Ser)	FIGN (G281S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095208	NM_018086.4(FIGN):c.710A>G (p.Asn237Ser)	FIGN (N237S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095207	NM_018086.4(FIGN):c.454C>T (p.Pro152Ser)	FIGN (P141S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095206	NM_018086.4(FIGN):c.305G>A (p.Arg102Gln)	FIGN (R91Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095205	NM_018086.4(FIGN):c.2080G>A (p.Ala694Thr)	FIGN (A683T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095204	NM_018086.4(FIGN):c.1205C>T (p.Pro402Leu)	FIGN (P402L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095203	NM_018086.4(FIGN):c.1186A>G (p.Ser396Gly)	FIGN (S385G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062617	GRCh37/hg19 2q24.2-31.1(chr2:162692199-174452488)x1	ABCB11, B3GALT1 +57 more	Copy number loss	not specified	GPathogenic
Select item 3062503	GRCh37/hg19 2q24.1-24.3(chr2:157718631-165360287)x1	CCDC148, CD302 +29 more	Copy number loss	not specified	GPathogenic
Select item 2651474	NM_018086.4(FIGN):c.690A>T (p.Pro230=)	FIGN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651473	NM_018086.4(FIGN):c.795G>A (p.Gly265=)	FIGN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651472	NM_018086.4(FIGN):c.819G>A (p.Ala273=)	FIGN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2616851	NM_018086.4(FIGN):c.145A>G (p.Thr49Ala)	FIGN (T38A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554869	NM_018086.4(FIGN):c.1262A>C (p.Lys421Thr)	FIGN (K410T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553673	NM_018086.4(FIGN):c.383T>A (p.Ile128Asn)	FIGN (I117N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551987	NM_018086.4(FIGN):c.1612T>C (p.Cys538Arg)	FIGN (C538R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516275	NM_018086.4(FIGN):c.1669G>A (p.Ala557Thr)	FIGN (A546T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512559	NM_018086.4(FIGN):c.1374C>A (p.Asp458Glu)	FIGN (D458E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494208	NM_018086.4(FIGN):c.374C>T (p.Pro125Leu)	FIGN (P125L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411637	NM_018086.4(FIGN):c.1474G>A (p.Asp492Asn)	FIGN (D481N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380448	NM_018086.4(FIGN):c.1909G>A (p.Asp637Asn)	FIGN (D626N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374682	NM_018086.4(FIGN):c.2170G>A (p.Val724Ile)	FIGN (V713I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369653	NM_018086.4(FIGN):c.376G>A (p.Asp126Asn)	FIGN (D126N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359416	NM_018086.4(FIGN):c.1375G>A (p.Glu459Lys)	FIGN (E448K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344188	NM_018086.4(FIGN):c.2044G>A (p.Val682Ile)	FIGN (V671I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340401	NM_018086.4(FIGN):c.851C>T (p.Pro284Leu)	FIGN (P284L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338087	NM_018086.4(FIGN):c.497G>A (p.Ser166Asn)	FIGN (S166N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325636	NM_018086.4(FIGN):c.1810C>T (p.Arg604Trp)	FIGN (R593W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296502	NM_018086.4(FIGN):c.740A>C (p.Tyr247Ser)	FIGN (Y247S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292368	NM_018086.4(FIGN):c.967A>G (p.Met323Val)	FIGN (M323V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277700	NM_018086.4(FIGN):c.1782A>C (p.Gln594His)	FIGN (Q583H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273627	NM_018086.4(FIGN):c.244C>T (p.Pro82Ser)	FIGN (P82S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272688	NM_018086.4(FIGN):c.1822G>A (p.Glu608Lys)	FIGN (E597K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249005	NM_018086.4(FIGN):c.1933A>G (p.Met645Val)	FIGN (M645V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247787	NM_018086.4(FIGN):c.1554A>C (p.Leu518Phe)	FIGN (L507F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244446	NM_018086.4(FIGN):c.1435C>A (p.Gln479Lys)	FIGN (Q479K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214587	NM_018086.4(FIGN):c.1606G>T (p.Gly536Cys)	FIGN (G525C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526928	GRCh37/hg19 2q24.3(chr2:164401462-164470460)	FIGN	Copy number loss	not specified	GUncertain significance
Select item 1526927	GRCh37/hg19 2q24.2-24.3(chr2:163168812-167567296)	COBLL1, CSRNP3 +13 more	Copy number gain	not specified	GPathogenic
Select item 1526925	GRCh37/hg19 2q24.2-24.3(chr2:161551326-167762790)	COBLL1, CSRNP3 +21 more	Copy number loss	not specified	GPathogenic
Select item 1343115	NM_018086.4(FIGN):c.861del (p.Thr288fs)	FIGN (T277fs +1 more)	Deletion (frameshift variant)	Developmental disorder	GUncertain significance
Select item 1339653	GRCh37/hg19 2q24.2-31.1(chr2:160347642-174075851)x1	METTL8, PSMD14 +67 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 981210	GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1	ABCB11, AGPS +97 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 932937	GRCh37/hg19 2q24.2-24.3(chr2:160075929-164666149)	BAZ2B, CD302 +19 more	Copy number loss	Autistic behavior +1 more	GLikely pathogenic
Select item 814338	GRCh37/hg19 2q24.2-24.3(chr2:163430120-165353676)x3	FIGN, KCNH7 +1 more	Copy number gain	not provided	GUncertain significance
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 626293	Single allele	COBLL1, CSRNP3 +18 more	Deletion	not provided	GPathogenic
Select item 523686	Single allele	LY75-CD302, MARCHF7 +19 more	Deletion	Severe global developmental delay +1 more	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443473	GRCh37/hg19 2q24.1-24.3(chr2:157970774-169270675)x1	ACVR1, ACVR1C +42 more	Copy number loss	See cases	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442396	GRCh37/hg19 2q24.3(chr2:164366067-169069454)x1	B3GALT1, COBLL1 +13 more	Copy number loss	See cases	GPathogenic
Select item 253674	GRCh37/hg19 2q24.2-24.3(chr2:161542325-164640864)x1	FAP, GCG +9 more	Copy number loss	See cases	GPathogenic
Select item 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 148507	GRCh38/hg38 2q24.3(chr2:163419387-165682938)x1	COBLL1, CSRNP3 +26 more	Copy number loss	See cases	GLikely pathogenic
Select item 60245	GRCh38/hg38 2q24.3(chr2:163455290-166962322)x1	COBLL1, CSRNP3 +38 more	Copy number loss	See cases	GPathogenic
Select item 59150	GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3	ACVR1, ACVR1C +275 more	Copy number gain	See cases	GPathogenic
Select item 57318	GRCh38/hg38 2q24.1-24.3(chr2:158382388-166605758)x1	BAZ2B, BAZ2B-AS1 +197 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 66