ClinVar for Gene (Select 55239) - ClinVar

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Links from Gene

Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341505	NM_018233.4(OGFOD1):c.901-21_901-18del	BBS2, OGFOD1	Deletion (intron variant)	not provided	GLikely benign
Select item 3302211	NM_018233.4(OGFOD1):c.1098T>A (p.His366Gln)	BBS2, OGFOD1 (H269Q +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3302210	NM_018233.4(OGFOD1):c.800A>T (p.Tyr267Phe)	OGFOD1 (Y266F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302209	NM_018233.4(OGFOD1):c.814C>G (p.Pro272Ala)	OGFOD1 (P175A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302208	NM_018233.4(OGFOD1):c.383C>G (p.Ser128Cys)	OGFOD1 (S128C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302207	NM_018233.4(OGFOD1):c.1316T>A (p.Leu439Gln)	BBS2, OGFOD1 (L438Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
Select item 3243644	NC_000016.9:g.(?_56226148)_(57286179_?)del	AMFR, ARL2BP +24 more	Deletion	not provided	GPathogenic
Select item 3204114	NM_018233.4(OGFOD1):c.928G>A (p.Ala310Thr)	OGFOD1 (A309T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204113	NM_018233.4(OGFOD1):c.703G>A (p.Gly235Ser)	OGFOD1 (G95S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204112	NM_018233.4(OGFOD1):c.631G>A (p.Glu211Lys)	OGFOD1 (E114K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204110	NM_018233.4(OGFOD1):c.166A>G (p.Met56Val)	OGFOD1 (M55V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3204109	NM_018233.4(OGFOD1):c.1510T>C (p.Tyr504His)	BBS2, OGFOD1 (Y466H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204108	NM_018233.4(OGFOD1):c.1281G>C (p.Lys427Asn)	BBS2, OGFOD1 (K330N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204107	NM_018233.4(OGFOD1):c.122A>T (p.Glu41Val)	LOC130059043, OGFOD1 (E41V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3063467	GRCh37/hg19 16q12.2-22.1(chr16:55329260-67180113)x1	ADGRG1, ADGRG3 +85 more	Copy number loss	not specified	GPathogenic
Select item 3024873	NM_018233.4(OGFOD1):c.1584A>C (p.Pro528=)	BBS2, OGFOD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2615100	NM_018233.4(OGFOD1):c.635T>C (p.Val212Ala)	OGFOD1 (V115A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592807	NM_018233.4(OGFOD1):c.760C>A (p.Pro254Thr)	OGFOD1 (P157T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590010	NM_018233.4(OGFOD1):c.763C>T (p.Arg255Trp)	OGFOD1 (R255W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589921	NM_018233.4(OGFOD1):c.310T>A (p.Leu104Met)	OGFOD1 (L104M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2562109	NM_018233.4(OGFOD1):c.1112C>T (p.Ser371Leu)	BBS2, OGFOD1 (S231L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535749	NM_018233.4(OGFOD1):c.172A>C (p.Met58Leu)	OGFOD1 (M58L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2502268	NM_018233.4(OGFOD1):c.1467+11_1467+13del	BBS2, OGFOD1	Microsatellite (intron variant)	Bardet-Biedl syndrome 2 +1 more	GUncertain significance
Select item 2469268	NM_018233.4(OGFOD1):c.380T>A (p.Leu127His)	OGFOD1 (L126H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468584	NM_018233.4(OGFOD1):c.954G>C (p.Trp318Cys)	OGFOD1 (W263C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426640	NC_000016.9:g.(?_56226148)_(58768132_?)del	ADGRG1, ADGRG3 +54 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
Select item 2412005	NM_018233.4(OGFOD1):c.38G>C (p.Arg13Pro)	LOC130059043, OGFOD1 (R13P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2411258	NM_018233.4(OGFOD1):c.169G>T (p.Asp57Tyr)	OGFOD1 (D2Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406505	NM_018233.4(OGFOD1):c.1547T>C (p.Ile516Thr)	BBS2, OGFOD1 (I376T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380657	NM_018233.4(OGFOD1):c.1556G>A (p.Arg519Gln)	BBS2, OGFOD1 (R464Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380621	NM_018233.4(OGFOD1):c.854A>G (p.Glu285Gly)	OGFOD1 (E145G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376394	NM_018233.4(OGFOD1):c.844C>A (p.Gln282Lys)	OGFOD1 (Q282K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376320	NM_018233.4(OGFOD1):c.113A>G (p.Gln38Arg)	LOC130059043, OGFOD1 (Q38R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2363195	NM_018233.4(OGFOD1):c.168G>A (p.Met56Ile)	OGFOD1 (M55I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2339054	NM_018233.4(OGFOD1):c.278A>T (p.Asn93Ile)	OGFOD1 (N92I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2337040	NM_018233.4(OGFOD1):c.188A>G (p.His63Arg)	OGFOD1 (H62R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324228	NM_018233.4(OGFOD1):c.488G>T (p.Arg163Leu)	OGFOD1 (R162L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301558	NM_018233.4(OGFOD1):c.485G>A (p.Arg162His)	OGFOD1 (R107H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281848	NM_018233.4(OGFOD1):c.1609T>G (p.Ser537Ala)	BBS2, OGFOD1 (S537A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255293	NM_018233.4(OGFOD1):c.37C>T (p.Arg13Trp)	LOC130059043, OGFOD1 (R13W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2252369	NM_018233.4(OGFOD1):c.1444A>T (p.Ile482Phe)	BBS2, OGFOD1 (I342F +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240290	NM_018233.4(OGFOD1):c.1583C>G (p.Pro528Arg)	BBS2, OGFOD1 (P388R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235507	NM_018233.4(OGFOD1):c.608C>T (p.Ser203Leu)	OGFOD1 (S202L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228432	NM_018233.4(OGFOD1):c.772C>T (p.His258Tyr)	OGFOD1 (H257Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807756	GRCh37/hg19 16q11.2-21(chr16:46503573-62203182)x3	HERPUD1, IRX3 +99 more	Copy number gain	not provided	GPathogenic
Select item 1696636	Single allele	IRX5, IRX6 +189 more	Deletion	not provided	GPathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 1526511	GRCh37/hg19 16q12.2(chr16:56269138-56618661)	AMFR, BBS2 +4 more	Copy number gain	not specified	GUncertain significance
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 687857	GRCh37/hg19 16q12.2-21(chr16:53455650-64006604)x3	ADGRG1, ADGRG3 +68 more	Copy number gain	not provided	GUncertain significance
Select item 564332	GRCh37/hg19 16q12.2(chr16:56355238-56487629)x1	AMFR, NUDT21 +2 more	Copy number loss	not provided	GUncertain significance
Select item 564331	GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3	AARS1, ACD +194 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	CA7, COG8 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	KCTD19, KIAA0513 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443550	GRCh37/hg19 16p11.2-q21(chr16:34197492-64509054)x3	ABCC11, ABCC12 +100 more	Copy number gain	See cases	GPathogenic
Select item 443378	GRCh37/hg19 16q12.2-13(chr16:56492890-57056368)x3	BBS2, CETP +17 more	Copy number gain	See cases	GUncertain significance
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 221523	GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1	AARS1, ACD +174 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	ATXN1L, B3GNT9 +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	ADGRG5, CFAP263 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 144256	GRCh38/hg38 16q12.2-21(chr16:55457477-63841622)x1	ADGRG1, ADGRG3 +244 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 67