ClinVar for Gene (Select 135228) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685206	GRCh37/hg19 6q13(chr6:74470927-74542644)x1	CD109	Copy number loss	not provided	GUncertain significance
Select item 2684447	GRCh37/hg19 6q13(chr6:73879839-74610369)x3	DDX43, CD109 +10 more	Copy number gain	not provided	GUncertain significance
Select item 2656703	NM_133493.5(CD109):c.3887A>G (p.His1296Arg)	CD109 (H1219R +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2614595	NM_133493.5(CD109):c.598A>G (p.Ile200Val)	CD109 (I200V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612611	NM_133493.5(CD109):c.2872A>T (p.Arg958Trp)	CD109 (R881W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611268	NM_133493.5(CD109):c.1528G>A (p.Gly510Arg)	CD109 (G433R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610750	NM_133493.5(CD109):c.3782A>G (p.Tyr1261Cys)	CD109 (Y1184C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606221	NM_133493.5(CD109):c.345A>T (p.Leu115Phe)	CD109 (L115F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2602549	NM_133493.5(CD109):c.3299G>A (p.Gly1100Glu)	CD109 (G1023E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599314	NM_133493.5(CD109):c.2841T>G (p.Asp947Glu)	CD109 (D870E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2591483	NM_133493.5(CD109):c.2515C>T (p.Pro839Ser)	CD109 (P762S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570039	NM_133493.5(CD109):c.3443C>G (p.Ala1148Gly)	CD109 (A1148G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568492	NM_133493.5(CD109):c.671A>G (p.Tyr224Cys)	CD109 (Y147C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568225	NM_133493.5(CD109):c.857T>C (p.Ile286Thr)	CD109 (I209T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550435	NM_133493.5(CD109):c.895A>G (p.Met299Val)	CD109 (M299V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548751	NM_133493.5(CD109):c.2726A>G (p.Asn909Ser)	CD109 (N832S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515353	NM_133493.5(CD109):c.2185G>A (p.Glu729Lys)	CD109 (E652K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509848	NM_133493.5(CD109):c.1744C>G (p.Gln582Glu)	CD109 (Q505E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488693	NM_133493.5(CD109):c.3344C>G (p.Ala1115Gly)	CD109 (A1038G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486826	NM_133493.5(CD109):c.2746C>G (p.Arg916Gly)	CD109 (R839G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484890	NM_133493.5(CD109):c.2872A>G (p.Arg958Gly)	CD109 (R958G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482260	NM_133493.5(CD109):c.3549T>G (p.Asp1183Glu)	CD109 (D1183E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480434	NM_133493.5(CD109):c.1979A>G (p.Tyr660Cys)	CD109 (Y660C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478769	NM_133493.5(CD109):c.2027A>G (p.His676Arg)	CD109 (H599R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471898	NM_133493.5(CD109):c.3152A>T (p.Tyr1051Phe)	CD109 (Y1051F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467666	NM_133493.5(CD109):c.3917C>T (p.Ser1306Leu)	CD109 (S1229L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2460185	NM_133493.5(CD109):c.1756A>G (p.Ile586Val)	CD109 (I509V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459728	NM_133493.5(CD109):c.752C>T (p.Thr251Met)	CD109 (T174M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2412113	NM_133493.5(CD109):c.179C>T (p.Ala60Val)	CD109 (A60V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405860	NM_133493.5(CD109):c.2656C>T (p.Pro886Ser)	CD109 (P809S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401838	NM_133493.5(CD109):c.2690T>A (p.Ile897Asn)	CD109 (I820N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398358	NM_133493.5(CD109):c.3923C>T (p.Pro1308Leu)	CD109 (P1308L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389309	NM_133493.5(CD109):c.496A>T (p.Ile166Phe)	CD109 (I166F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2386320	NM_133493.5(CD109):c.3073G>A (p.Gly1025Ser)	CD109 (G1025S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385237	NM_133493.5(CD109):c.1145T>C (p.Leu382Pro)	CD109 (L382P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2384371	NM_133493.5(CD109):c.334G>A (p.Asp112Asn)	CD109 (D112N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2374070	NM_133493.5(CD109):c.1748C>T (p.Pro583Leu)	CD109 (P506L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369436	NM_133493.5(CD109):c.4240C>T (p.Arg1414Cys)	CD109 (R1414C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350869	NM_133493.5(CD109):c.1495A>G (p.Met499Val)	CD109 (M422V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340923	NM_133493.5(CD109):c.3565A>G (p.Lys1189Glu)	CD109 (K1189E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338632	NM_133493.5(CD109):c.100G>A (p.Gly34Arg)	CD109 (G34R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327614	NM_133493.5(CD109):c.953C>G (p.Pro318Arg)	CD109 (P241R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325017	NM_133493.5(CD109):c.725A>G (p.Asn242Ser)	CD109 (N165S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321178	NM_133493.5(CD109):c.4308G>C (p.Lys1436Asn)	CD109 (K1419N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306012	NM_133493.5(CD109):c.3356G>A (p.Gly1119Asp)	CD109 (G1119D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305540	NM_133493.5(CD109):c.3087T>A (p.Asp1029Glu)	CD109 (D1029E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2304003	NM_133493.5(CD109):c.4172C>A (p.Ala1391Glu)	CD109 (A1314E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293333	NM_133493.5(CD109):c.4323G>A (p.Met1441Ile)	CD109 (M1424I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293213	NM_133493.5(CD109):c.1687T>G (p.Trp563Gly)	CD109 (W563G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290317	NM_133493.5(CD109):c.721A>G (p.Met241Val)	CD109 (M241V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289581	NM_133493.5(CD109):c.4244C>T (p.Pro1415Leu)	CD109 (P1398L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281275	NM_133493.5(CD109):c.3679C>G (p.Arg1227Gly)	CD109 (R1150G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2280035	NM_133493.5(CD109):c.2764G>A (p.Gly922Ser)	CD109 (G922S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273274	NM_133493.5(CD109):c.1273A>C (p.Ser425Arg)	CD109 (S348R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269633	NM_133493.5(CD109):c.1615G>C (p.Asp539His)	CD109 (D539H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268316	NM_133493.5(CD109):c.3490A>G (p.Ile1164Val)	CD109 (I1087V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266719	NM_133493.5(CD109):c.2759G>T (p.Gly920Val)	CD109 (G843V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266718	NM_133493.5(CD109):c.2758G>A (p.Gly920Ser)	CD109 (G920S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264153	NM_133493.5(CD109):c.2639T>C (p.Leu880Ser)	CD109 (L803S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241687	NM_133493.5(CD109):c.3182A>G (p.Lys1061Arg)	CD109 (K1061R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233407	NM_133493.5(CD109):c.8G>T (p.Gly3Val)	CD109 (G3V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224971	NM_133493.5(CD109):c.70C>T (p.Pro24Ser)	CD109 (P24S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216943	NM_133493.5(CD109):c.209C>G (p.Thr70Ser)	CD109 (T70S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205134	NM_133493.5(CD109):c.3389A>G (p.Lys1130Arg)	CD109 (K1053R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1879664	NM_133493.5(CD109):c.1130G>A (p.Gly377Asp)	CD109 (G300D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1710926	GRCh37/hg19 6q13(chr6:71105038-75200617)x1	DPPA5, EEF1A1 +17 more	Copy number loss	Autism	GPathogenic
Select item 1703664	GRCh37/hg19 6q12-14.1(chr6:64954687-79581678)	B3GAT2, CD109 +32 more	Copy number loss	Chromosome 6q11-q14 deletion syndrome	GPathogenic
Select item 1527249	GRCh37/hg19 6q12-16.1(chr6:69938252-94379210)	KHDC1L, KHDC3L +88 more	Copy number gain	not specified	GPathogenic
Select item 1341189	GRCh37/hg19 6q13-14.1(chr6:72799054-83275894)x1	KHDC3L, LCA5 +31 more	Copy number loss	not provided	GPathogenic
Select item 1340605	GRCh37/hg19 6q13-14.1(chr6:70165296-79920769)x1	B3GAT2, CD109 +31 more	Copy number loss	not provided	GPathogenic
Select item 980211	GRCh37/hg19 6q13-14.1(chr6:74226559-80208037)x1	IRAK1BP1, CD109 +13 more	Copy number loss	not provided	GPathogenic
Select item 795065	NM_133493.5(CD109):c.2997C>T (p.Ala999=)	CD109	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 790579	NM_133493.5(CD109):c.3043A>T (p.Thr1015Ser)	CD109 (T1015S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 780640	NM_133493.5(CD109):c.2337+3A>G	CD109	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 776594	NM_133493.5(CD109):c.616A>G (p.Ile206Val)	CD109 (I129V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 776140	NM_133493.5(CD109):c.4162+3A>G	CD109	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 776139	NM_133493.5(CD109):c.4060-10A>G	CD109	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 776138	NM_133493.5(CD109):c.3822T>G (p.Ser1274=)	CD109	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776137	NM_133493.5(CD109):c.3789G>A (p.Val1263=)	CD109	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776136	NM_133493.5(CD109):c.3723G>T (p.Thr1241=)	CD109	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776135	NM_133493.5(CD109):c.3695C>T (p.Thr1232Ile)	CD109 (T1232I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 776134	NM_133493.5(CD109):c.3356-5T>G	CD109	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 776133	NM_133493.5(CD109):c.1923G>T (p.Leu641Phe)	CD109 (L641F +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 773471	NM_133493.5(CD109):c.1246C>G (p.Gln416Glu)	CD109 (Q339E +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 771401	NM_133493.5(CD109):c.3768+6T>A	CD109	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 727282	NM_133493.5(CD109):c.3768+9C>T	CD109	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 725586	NM_133493.5(CD109):c.3526G>A (p.Gly1176Ser)	CD109 (G1176S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 723668	NM_133493.5(CD109):c.1435-4C>T	CD109	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 623398	NM_133493.5(CD109):c.3346G>C (p.Glu1116Gln)	CD109 (E1116Q +1 more)	Single nucleotide variant (missense variant)	High myopia	GUncertain significance
Select item 563193	GRCh37/hg19 6q13(chr6:74484013-74610890)x1	CD109	Copy number loss	not provided	GUncertain significance
Select item 563192	GRCh37/hg19 6q13-14.2(chr6:73674612-84829774)x1	DDX43, TMEM30A +40 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 154460	GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1	EEF1A1-AS1, KCNQ5-DT +310 more	Copy number loss	See cases	GPathogenic

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