Related gene-specific medical variations for Gene (Select 6573) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3268588	NM_001379500.1(COL18A1):c.3695A>C (p.Asp1232Ala)	COL18A1, SLC19A1 (D1409A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3233684	NM_001379500.1(COL18A1):c.3955G>T (p.Ala1319Ser)	COL18A1, SLC19A1 (A1319S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147323	NM_001379500.1(COL18A1):c.3974A>G (p.Tyr1325Cys)	COL18A1, SLC19A1 (Y1502C +2 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 +2 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 3068963	NM_001379500.1(COL18A1):c.*1171A>T	COL18A1, SLC19A1	Single nucleotide variant (3 prime UTR variant)	not specified	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	COL18A1-related disorder	GBenign
Select item 3060106	NM_001379500.1(COL18A1):c.2989_2997del (p.Ser997_Pro999del)	COL18A1, SLC19A1	Deletion	COL18A1-related disorder	GLikely benign
Select item 3053786	NM_001379500.1(COL18A1):c.2982_2990dup (p.Ser997_Phe998insProProSer)	COL18A1, SLC19A1	Duplication	COL18A1-related disorder	GLikely benign
Select item 3052767	NM_001379500.1(COL18A1):c.3066_3074del (p.Thr1023_Gly1025del)	COL18A1, SLC19A1	Deletion	COL18A1-related disorder	GLikely benign
Select item 3034845	NM_001379500.1(COL18A1):c.2832_2834del (p.Gly945del)	COL18A1, SLC19A1 (G1125del +2 more)	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 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 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 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 3007845	NM_001379500.1(COL18A1):c.3363C>T (p.Ile1121=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous 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 2992996	NM_001379500.1(COL18A1):c.3387C>T (p.Pro1129=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous 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 2987272	NM_001379500.1(COL18A1):c.3129G>A (p.Val1043=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	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 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 2972951	NM_001379500.1(COL18A1):c.3285G>A (p.Val1095=)	COL18A1, SLC19A1	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 2894623	NM_001379500.1(COL18A1):c.3306C>T (p.Pro1102=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	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 2883915	NM_001379500.1(COL18A1):c.2962G>A (p.Gly988Ser)	COL18A1, SLC19A1 (G1400S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2880485	NM_001379500.1(COL18A1):c.3809+7del	COL18A1, SLC19A1	Deletion (intron variant)	not provided	GLikely benign
Select item 2880064	NM_001379500.1(COL18A1):c.2814C>G (p.Pro938=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877001	NM_001379500.1(COL18A1):c.3375C>T (p.Pro1125=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2876766	NM_001379500.1(COL18A1):c.3083C>T (p.Ser1028Leu)	COL18A1, SLC19A1 (S1205L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870441	NM_001379500.1(COL18A1):c.3792C>T (p.Val1264=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868756	NM_001379500.1(COL18A1):c.3307_3325del (p.Tyr1103fs)	COL18A1, SLC19A1 (Y1280fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2868326	NM_001379500.1(COL18A1):c.2728-14G>A	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2864756	NM_001379500.1(COL18A1):c.3495+18G>A	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2863833	NM_001379500.1(COL18A1):c.2832_2838del (p.Gly945fs)	COL18A1, SLC19A1 (G945fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2860177	NM_001379500.1(COL18A1):c.3153C>T (p.Leu1051=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2854305	NM_001379500.1(COL18A1):c.3315G>A (p.Arg1105=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2848923	NM_001379500.1(COL18A1):c.3087+16G>C	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2842255	NM_001379500.1(COL18A1):c.3360C>T (p.Asp1120=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2842252	NM_001379500.1(COL18A1):c.3249+11T>A	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2841918	NM_001379500.1(COL18A1):c.3250-4G>A	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2841583	NM_001379500.1(COL18A1):c.3456A>G (p.Thr1152=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2837277	NM_001379500.1(COL18A1):c.2727+14del	COL18A1, SLC19A1	Deletion (intron variant)	not provided	GLikely benign
Select item 2836429	NM_001379500.1(COL18A1):c.3114C>T (p.Ala1038=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2835872	NM_001379500.1(COL18A1):c.3213C>T (p.Val1071=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2835533	NM_001379500.1(COL18A1):c.2727+20G>T	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2835492	NM_001379500.1(COL18A1):c.3165C>G (p.Ala1055=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2833728	NM_001379500.1(COL18A1):c.2884_2885del (p.Ser962fs)	COL18A1, SLC19A1 (S1374fs +2 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2832571	NM_001379500.1(COL18A1):c.3267C>G (p.Ala1089=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2828757	NM_001379500.1(COL18A1):c.3693+7C>T	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2823919	NM_001379500.1(COL18A1):c.3350G>C (p.Arg1117Pro)	COL18A1, SLC19A1 (R1294P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2822506	NM_001379500.1(COL18A1):c.3533del (p.Gly1178fs)	COL18A1, SLC19A1 (G1178fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2818814	NM_001379500.1(COL18A1):c.2684-9C>G	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2816213	NM_001379500.1(COL18A1):c.3599del (p.Gly1200fs)	COL18A1, SLC19A1 (G1377fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2812359	NM_001379500.1(COL18A1):c.3496-13C>T	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2812264	NM_001379500.1(COL18A1):c.3942G>A (p.Leu1314=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2812239	NM_001379500.1(COL18A1):c.3099G>A (p.Trp1033Ter)	COL18A1, SLC19A1 (W1210* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2807590	NM_001379500.1(COL18A1):c.3087G>A (p.Gly1029=)	SLC19A1, COL18A1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2807587	NM_001379500.1(COL18A1):c.3087+15dup	SLC19A1, COL18A1	Duplication (intron variant)	not provided	GLikely benign
Select item 2805804	NM_001379500.1(COL18A1):c.2868+18C>T	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2803041	NM_001379500.1(COL18A1):c.3414G>C (p.Pro1138=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2792663	NM_001379500.1(COL18A1):c.3496-9T>C	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2785762	NM_001379500.1(COL18A1):c.3180C>G (p.Leu1060=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2785474	NM_001379500.1(COL18A1):c.2868+11G>A	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2784705	NM_001379500.1(COL18A1):c.3735C>A (p.Gly1245=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2782777	NM_001379500.1(COL18A1):c.2982G>A (p.Gly994=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2760023	NM_001379500.1(COL18A1):c.3666_3682del (p.Ala1223fs)	SLC19A1, COL18A1 (A1635fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2759868	NM_001379500.1(COL18A1):c.2728-9C>G	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2755397	NM_001379500.1(COL18A1):c.3217-12G>C	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2753490	NM_001379500.1(COL18A1):c.3933C>T (p.Gly1311=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2751434	NM_001379500.1(COL18A1):c.3495+17A>C	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2748863	NM_001379500.1(COL18A1):c.3189C>G (p.Arg1063=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2724674	NM_001379500.1(COL18A1):c.3226C>A (p.Arg1076=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2713772	NM_001379500.1(COL18A1):c.2832A>T (p.Pro944=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2713141	NM_001379500.1(COL18A1):c.3129_3137del (p.His1044_Val1046del)	COL18A1, SLC19A1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2711147	NM_001379500.1(COL18A1):c.3014-14T>C	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2710889	NM_001379500.1(COL18A1):c.3050C>A (p.Pro1017His)	COL18A1, SLC19A1 (P1017H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2707965	NM_001379500.1(COL18A1):c.2727+16G>A	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2705913	NM_001379500.1(COL18A1):c.2869-18T>C	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2704121	NM_001379500.1(COL18A1):c.3990T>G (p.Ile1330Met)	COL18A1, SLC19A1 (I1742M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2701238	NM_001379500.1(COL18A1):c.2757A>G (p.Gly919=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2698661	NM_001379500.1(COL18A1):c.3087+16_3087+27del	COL18A1, SLC19A1	Deletion (intron variant)	not provided	GLikely benign
Select item 2693856	NM_001379500.1(COL18A1):c.3426C>T (p.Ser1142=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2693605	NM_001379500.1(COL18A1):c.3500A>C (p.His1167Pro)	COL18A1, SLC19A1 (H1344P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2633976	NM_001379500.1(COL18A1):c.3811C>T (p.Pro1271Ser)	COL18A1, SLC19A1 (P1271S +2 more)	Single nucleotide variant (missense variant)	COL18A1-related disorder	GUncertain significance
Select item 2504107	NM_001379500.1(COL18A1):c.3329_3336del (p.His1110fs)	COL18A1, SLC19A1 (H1110fs +2 more)	Deletion (frameshift variant)	Knobloch syndrome	GPathogenic
Select item 2480842	NM_001379500.1(COL18A1):c.2977C>T (p.Pro993Ser)	COL18A1, SLC19A1 (P1170S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2439267	NM_001379500.1(COL18A1):c.3337dup (p.Ala1113fs)	COL18A1, SLC19A1 (A1113fs +2 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2439255	NM_001379500.1(COL18A1):c.2824_2825del (p.Gly942fs)	COL18A1, SLC19A1 (G1122fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2427915	NM_001379500.1(COL18A1):c.3059_3075del (p.Pro1020fs)	COL18A1, SLC19A1 (P1020fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2417634	NM_001379500.1(COL18A1):c.2984C>T (p.Pro995Leu)	COL18A1, SLC19A1 (P1172L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2414905	NM_001379500.1(COL18A1):c.3249+7A>G	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2414821	NM_001379500.1(COL18A1):c.2961_2969del (p.985GPP[3])	COL18A1, SLC19A1	Deletion (inframe_deletion)	not provided	GLikely benign

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