ClinVar for Gene (Select 80781) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233684	NM_001379500.1(COL18A1):c.3955G>T (p.Ala1319Ser)	COL18A1, SLC19A1 (A1319S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3233669	NM_001379500.1(COL18A1):c.107-12701del	COL18A1 (Y4fs)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 3148842	GRCh37/hg19 21q22.3(chr21:45726806-48093361)x1	KRTAP10-4, KRTAP10-2 +44 more	Copy number loss	not provided	GUncertain significance
Select item 3147325	NM_001379500.1(COL18A1):c.631G>A (p.Ala211Thr)	COL18A1 (A391T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147323	NM_001379500.1(COL18A1):c.3974A>G (p.Tyr1325Cys)	COL18A1, SLC19A1 (Y1502C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3147322	NM_001379500.1(COL18A1):c.3670G>A (p.Ala1224Thr)	COL18A1, SLC19A1 (A1636T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147320	NM_001379500.1(COL18A1):c.3085G>A (p.Gly1029Arg)	COL18A1, SLC19A1 (G1206R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147318	NM_001379500.1(COL18A1):c.2971G>A (p.Gly991Ser)	COL18A1, SLC19A1 (G1403S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147316	NM_001379500.1(COL18A1):c.1863C>G (p.Phe621Leu)	COL18A1 (F621L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147315	NM_001379500.1(COL18A1):c.1849T>C (p.Ser617Pro)	COL18A1 (S617P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147314	NM_001379500.1(COL18A1):c.1808C>T (p.Pro603Leu)	COL18A1 (P1018L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068963	NM_001379500.1(COL18A1):c.*1171A>T	COL18A1, SLC19A1	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062430	GRCh37/hg19 21q22.3(chr21:44577746-48097372)x1	KRTAP10-7, KRTAP10-8 +58 more	Copy number loss	not specified	GPathogenic
Select item 3062429	GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	CBR1, CBR3 +139 more	Copy number gain	not specified	GPathogenic
Select item 3062428	GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1	KCNJ15, KCNJ6 +118 more	Copy number loss	not specified	GPathogenic
Select item 3062427	GRCh37/hg19 21q22.3(chr21:45102309-48097372)x1	DNMT3L, SLX9 +55 more	Copy number loss	not specified	GPathogenic
Select item 3062426	GRCh37/hg19 21q22.3(chr21:43369956-48097372)x1	DNMT3L, PRMT2 +75 more	Copy number loss	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	COL6A1, COL6A2 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062421	GRCh37/hg19 21q22.3(chr21:43603041-48097372)x1	COL18A1, S100B +72 more	Copy number loss	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	CBS, ITGB2 +186 more	Copy number gain	not specified	GPathogenic
Select item 3061556	NM_001379500.1(COL18A1):c.613G>C (p.Val205Leu)	COL18A1 (V205L +2 more)	Single nucleotide variant (missense variant)	COL18A1-related disorder	GUncertain significance
Select item 3061311	NM_001379500.1(COL18A1):c.2928dup (p.Gly977fs)	COL18A1, SLC19A1 (G1154fs +2 more)	Duplication (frameshift variant)	COL18A1-related disorder	GPathogenic
Select item 3060537	NM_001379500.1(COL18A1):c.2847_2855del (p.Arg950_Tyr952del)	COL18A1, SLC19A1	Deletion (inframe deletion)	COL18A1-related disorder	GBenign
Select item 3060106	NM_001379500.1(COL18A1):c.2989_2997del (p.Ser997_Pro999del)	COL18A1, SLC19A1	Deletion (inframe deletion)	COL18A1-related disorder	GLikely benign
Select item 3053786	NM_001379500.1(COL18A1):c.2982_2990dup (p.Ser997_Phe998insProProSer)	COL18A1, SLC19A1	Duplication (inframe insertion)	COL18A1-related disorder	GLikely benign
Select item 3052767	NM_001379500.1(COL18A1):c.3066_3074del (p.Thr1023_Gly1025del)	COL18A1, SLC19A1	Deletion (inframe deletion)	COL18A1-related disorder	GLikely benign
Select item 3049339	NM_001379500.1(COL18A1):c.107-11368G>A	COL18A1	Single nucleotide variant (synonymous variant +1 more)	COL18A1-related disorder	GLikely benign
Select item 3047700	NM_001379500.1(COL18A1):c.2509-4A>T	COL18A1	Single nucleotide variant (intron variant)	COL18A1-related disorder	GLikely benign
Select item 3047434	NM_001379500.1(COL18A1):c.107-12712G>A	COL18A1	Single nucleotide variant (5 prime UTR variant +1 more)	COL18A1-related disorder	GLikely benign
Select item 3046730	NM_001379500.1(COL18A1):c.107-11874G>A	COL18A1 (A280T)	Single nucleotide variant (missense variant +1 more)	COL18A1-related disorder	GLikely benign
Select item 3045151	NM_001379500.1(COL18A1):c.107-11576C>G	COL18A1 (T379R)	Single nucleotide variant (missense variant +1 more)	COL18A1-related disorder	GLikely benign
Select item 3041709	NM_001379500.1(COL18A1):c.107-11809C>T	COL18A1	Single nucleotide variant (synonymous variant +1 more)	COL18A1-related disorder	GLikely benign
Select item 3039005	NM_001379500.1(COL18A1):c.107-11440C>T	COL18A1	Single nucleotide variant (synonymous variant +1 more)	COL18A1-related disorder	GBenign
Select item 3038203	NM_030582.4(COL18A1):c.3363_3380del (p.Pro1123_Gly1128del)	COL18A1	Deletion (inframe_deletion)	COL18A1-related disorder	GBenign
Select item 3037842	NM_001379500.1(COL18A1):c.107-11596G>A	COL18A1	Single nucleotide variant (synonymous variant +1 more)	COL18A1-related disorder	GLikely benign
Select item 3036589	NM_001379500.1(COL18A1):c.107-11632C>T	COL18A1	Single nucleotide variant (synonymous variant +1 more)	COL18A1-related disorder	GLikely benign
Select item 3035492	NM_001379500.1(COL18A1):c.107-11848A>G	COL18A1	Single nucleotide variant (synonymous variant +1 more)	COL18A1-related disorder	GLikely benign
Select item 3034845	NM_001379500.1(COL18A1):c.2832_2834del (p.Gly945del)	COL18A1, SLC19A1 (G1125del +2 more)	Deletion (inframe deletion)	COL18A1-related disorder	GLikely benign
Select item 3034697	NM_030582.4(COL18A1):c.3376_3381del (p.Pro1126_Arg1127del)	COL18A1, SLC19A1	Deletion (inframe_deletion)	COL18A1-related disorder	GLikely benign
Select item 3034294	NM_001379500.1(COL18A1):c.2814CGGCCCCCC[1] (p.938PGP[3])	COL18A1	Deletion (inframe_deletion)	COL18A1-related disorder	GLikely benign
Select item 3033264	NM_001379500.1(COL18A1):c.107-11943G>A	COL18A1 (V257I)	Single nucleotide variant (missense variant +1 more)	COL18A1-related disorder	GBenign
Select item 3032808	NM_001379500.1(COL18A1):c.107-11515C>T	COL18A1	Single nucleotide variant (synonymous variant +1 more)	COL18A1-related disorder	GLikely benign
Select item 3032097	NM_001379500.1(COL18A1):c.107-11497G>C	COL18A1	Single nucleotide variant (synonymous variant +1 more)	COL18A1-related disorder	GLikely benign
Select item 3030591	NM_001379500.1(COL18A1):c.107-11497G>A	COL18A1	Single nucleotide variant (synonymous variant +1 more)	COL18A1-related disorder	GLikely benign
Select item 3030122	NM_001379500.1(COL18A1):c.107-11749C>T	COL18A1	Single nucleotide variant (synonymous variant +1 more)	COL18A1-related disorder	GLikely benign
Select item 3029440	NM_001379500.1(COL18A1):c.2824G>A (p.Gly942Ser)	COL18A1, SLC19A1 (G942S +2 more)	Single nucleotide variant (missense variant)	COL18A1-related disorder	GUncertain significance
Select item 3026396	NM_001379500.1(COL18A1):c.107-11421G>T	COL18A1 (A431S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3024164	NM_001379500.1(COL18A1):c.3083C>A (p.Ser1028Ter)	COL18A1, SLC19A1 (S1028* +2 more)	Single nucleotide variant (nonsense)	Knobloch syndrome 1	GLikely pathogenic
Select item 3022452	NM_001379500.1(COL18A1):c.2978dup (p.Gly994fs)	COL18A1, SLC19A1 (G1171fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3021746	NM_001379500.1(COL18A1):c.3984C>T (p.Leu1328=)	SLC19A1, COL18A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020790	NM_001379500.1(COL18A1):c.1264C>T (p.Gln422Ter)	COL18A1 (Q422* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3013828	NM_001379500.1(COL18A1):c.107-12208C>T	COL18A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3010386	NM_001379500.1(COL18A1):c.2215-12C>T	COL18A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010373	NM_001379500.1(COL18A1):c.3346T>G (p.Trp1116Gly)	COL18A1, SLC19A1 (W1116G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008831	NM_001379500.1(COL18A1):c.2538G>T (p.Gly846=)	COL18A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007845	NM_001379500.1(COL18A1):c.3363C>T (p.Ile1121=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005559	NM_001379500.1(COL18A1):c.2352+2T>C	COL18A1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3005348	NM_001379500.1(COL18A1):c.1821C>T (p.Leu607=)	COL18A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004572	NM_001379500.1(COL18A1):c.1311+14G>A	COL18A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002660	NM_001379500.1(COL18A1):c.107-12443G>T	COL18A1 (G90V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3002038	NM_001379500.1(COL18A1):c.2577+15C>T	COL18A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998928	NM_001379500.1(COL18A1):c.4008T>C (p.Thr1336=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997005	NM_001379500.1(COL18A1):c.1455T>G (p.Gly485=)	COL18A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995417	NM_001379500.1(COL18A1):c.285G>C (p.Leu95=)	COL18A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993215	NM_001379500.1(COL18A1):c.2323G>T (p.Ala775Ser)	COL18A1 (A955S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2992996	NM_001379500.1(COL18A1):c.3387C>T (p.Pro1129=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992156	NM_001379500.1(COL18A1):c.2353-8T>C	COL18A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990240	NM_001379500.1(COL18A1):c.4002C>T (p.Phe1334=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989835	NM_001379500.1(COL18A1):c.2610A>G (p.Pro870=)	COL18A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987272	NM_001379500.1(COL18A1):c.3129G>A (p.Val1043=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986817	NM_001379500.1(COL18A1):c.107-12268T>C	COL18A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2986520	NM_001379500.1(COL18A1):c.107-12137C>T	COL18A1 (T192I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2985856	NM_001379500.1(COL18A1):c.3496-9_3496-8del	COL18A1, SLC19A1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2985326	NM_001379500.1(COL18A1):c.1248+9G>A	COL18A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984986	NM_001379500.1(COL18A1):c.1005+8C>T	COL18A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983575	NM_001379500.1(COL18A1):c.2727+10C>T	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982341	NM_001379500.1(COL18A1):c.3222G>A (p.Glu1074=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979445	NM_001379500.1(COL18A1):c.1404C>T (p.Phe468=)	COL18A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977577	NM_001379500.1(COL18A1):c.1923+20G>A	COL18A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977469	NM_001379500.1(COL18A1):c.835C>G (p.Pro279Ala)	COL18A1 (P694A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977310	NM_001379500.1(COL18A1):c.107-12079A>G	COL18A1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2976865	NM_001379500.1(COL18A1):c.651+18G>T	COL18A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976147	NM_001379500.1(COL18A1):c.2031+20C>A	COL18A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975484	NM_001379500.1(COL18A1):c.1221+20C>G	COL18A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973223	NM_001379500.1(COL18A1):c.2158-15T>G	COL18A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972951	NM_001379500.1(COL18A1):c.3285G>A (p.Val1095=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972472	NM_001379500.1(COL18A1):c.1311+17G>A	COL18A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967662	NM_001379500.1(COL18A1):c.2157+19T>A	COL18A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2966268	NM_001379500.1(COL18A1):c.2353-19T>G	COL18A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964223	NM_001379500.1(COL18A1):c.106+8C>A	BNAT1, COL18A1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2960511	NM_001379500.1(COL18A1):c.972G>T (p.Gly324=)	COL18A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959705	NM_001379500.1(COL18A1):c.3600C>A (p.Gly1200=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2909402	NM_001379500.1(COL18A1):c.3013+3A>G	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2907752	NM_001379500.1(COL18A1):c.107-12199C>T	COL18A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2903832	NM_001379500.1(COL18A1):c.107-12094G>A	COL18A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2894623	NM_001379500.1(COL18A1):c.3306C>T (p.Pro1102=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893554	NM_001379500.1(COL18A1):c.107-12472T>A	COL18A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2893121	NM_001379500.1(COL18A1):c.3544_3554del (p.Ile1182fs)	COL18A1, SLC19A1 (I1594fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2890061	NM_001379500.1(COL18A1):c.261C>G (p.Leu87=)	COL18A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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