ClinVar for Gene (Select 7084) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3020635	NM_004614.5(TK2):c.232-4C>T	TK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012339	NM_004614.5(TK2):c.285+5G>A	TK2	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 3005318	NM_004614.5(TK2):c.700-13G>T	TK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996683	NM_004614.5(TK2):c.285+9G>T	TK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995261	NM_004614.5(TK2):c.4C>T (p.Leu2=)	TK2 (S126N)	Single nucleotide variant (missense variant +4 more)	not provided	GLikely benign
Select item 2993809	NM_004614.5(TK2):c.618+1G>A	TK2	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 2993449	NM_004614.5(TK2):c.615G>A (p.Pro205=)	TK2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2992638	NM_004614.5(TK2):c.285+19G>A	TK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992272	NM_004614.5(TK2):c.539-4T>C	TK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991710	NM_004614.5(TK2):c.426T>C (p.Ile142=)	TK2	Single nucleotide variant (synonymous variant +1 more)	TK2-related condition +1 more	GLikely benign
Select item 2990630	NM_004614.5(TK2):c.231+12A>G	TK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988434	NM_004614.5(TK2):c.286-17T>C	TK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988260	NM_004614.5(TK2):c.102G>A (p.Val34=)	TK2, LOC130059156	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2986953	NM_004614.5(TK2):c.285+8G>A	TK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982095	NM_004614.5(TK2):c.156+14_156+15del	TK2	Deletion (intron variant)	not provided	GLikely benign
Select item 2981413	NM_004614.5(TK2):c.423C>T (p.Tyr141=)	TK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2981294	NM_004614.5(TK2):c.279T>C (p.Asn93=)	TK2	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GLikely benign
Select item 2979442	NM_004614.5(TK2):c.450-15C>A	TK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969125	NM_004614.5(TK2):c.376-15T>G	TK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966015	NM_004614.5(TK2):c.618+14_618+15del	TK2	Deletion (intron variant)	not provided	GLikely benign
Select item 2958475	NM_004614.5(TK2):c.90G>A (p.Gly30=)	LOC130059156, TK2	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2920411	NM_004614.5(TK2):c.90G>T (p.Gly30=)	LOC130059156, TK2	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2918036	NM_004614.5(TK2):c.336T>C (p.Tyr112=)	TK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2910404	NM_004614.5(TK2):c.469_470insTGGG (p.Asp157fs)	TK2 (D108fs +5 more)	Insertion (frameshift variant +2 more)	not provided	GPathogenic
Select item 2896011	NM_004614.5(TK2):c.156+3A>G	TK2	Single nucleotide variant (intron variant)	TK2-related condition +1 more	GLikely benign
Select item 2891036	NM_004614.5(TK2):c.240G>A (p.Thr80=)	TK2	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2881761	NM_004614.5(TK2):c.795A>G (p.Pro265=)	TK2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2880409	NM_004614.5(TK2):c.375+9C>T	TK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879948	NM_004614.5(TK2):c.285+12G>C	TK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2878747	NM_004614.5(TK2):c.538+9C>G	TK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876697	NM_004614.5(TK2):c.125-14C>T	TK2	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2875021	NM_004614.5(TK2):c.124+20C>G	LOC130059156, TK2	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2874970	NM_004614.5(TK2):c.286-4G>T	TK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868035	NM_004614.5(TK2):c.618+13T>G	TK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2866346	NM_004614.5(TK2):c.721A>G (p.Met241Val)	TK2 (M144V +5 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2860685	NM_004614.5(TK2):c.157-5G>C	TK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2857173	NM_004614.5(TK2):c.117G>A (p.Trp39Ter)	LOC130059156, TK2 (W39*)	Single nucleotide variant (synonymous variant +4 more)	not provided	GPathogenic
Select item 2855390	NM_004614.5(TK2):c.124+20C>A	LOC130059156, TK2	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2855109	NM_004614.5(TK2):c.450-19del	TK2	Deletion (intron variant)	not provided	GLikely benign
Select item 2849567	NM_004614.5(TK2):c.357C>T (p.Asp119=)	TK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2844746	NM_004614.5(TK2):c.568del (p.Tyr190fs)	TK2 (Y165fs +5 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 2844143	NM_004614.5(TK2):c.285+12G>T	TK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2841835	NM_004614.5(TK2):c.540T>A (p.Val180=)	TK2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2840889	NM_004614.5(TK2):c.449+18_449+24del	TK2	Deletion (intron variant)	not provided	GLikely benign
Select item 2839755	NM_004614.5(TK2):c.743_744del (p.Leu247_Phe248insTer)	TK2	Deletion (nonsense +2 more)	not provided	GPathogenic
Select item 2834520	NM_004614.5(TK2):c.231+7C>T	TK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2834146	NM_004614.5(TK2):c.286-19T>C	TK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2832904	NM_004614.5(TK2):c.619-15G>T	TK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2830148	NM_004614.5(TK2):c.125-15del	TK2	Deletion (intron variant +1 more)	not provided	GLikely benign
Select item 2829001	NM_004614.5(TK2):c.766T>C (p.Leu256=)	TK2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2826957	NM_004614.5(TK2):c.699+15C>G	TK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2823634	NM_004614.5(TK2):c.125-10del	TK2	Deletion (intron variant +1 more)	not provided	GLikely benign
Select item 2814707	NM_004614.5(TK2):c.619-4G>T	TK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2814604	NM_004614.5(TK2):c.473_474del (p.Tyr158fs)	TK2 (Y158fs +5 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 2813635	NM_004614.5(TK2):c.618+1G>C	TK2	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 2810054	NM_004614.5(TK2):c.500G>A (p.Trp167Ter)	TK2 (W118* +5 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 2806533	NM_004614.5(TK2):c.156+17T>C	TK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2804283	NM_004614.5(TK2):c.660C>A (p.Leu220=)	TK2 (S133*)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2800063	NM_004614.5(TK2):c.60A>C (p.Gly20=)	LOC130059156, TK2	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2798769	NM_004614.5(TK2):c.513C>T (p.Asn171=)	TK2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2797252	NM_004614.5(TK2):c.700-17A>T	TK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2795547	NM_004614.5(TK2):c.6G>C (p.Leu2=)	TK2 (S125R)	Single nucleotide variant (synonymous variant +4 more)	not provided	GLikely benign
Select item 2795188	NM_004614.5(TK2):c.219G>A (p.Ala73=)	TK2	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2794458	NM_004614.5(TK2):c.376-16T>G	TK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2793198	NM_004614.5(TK2):c.780T>C (p.Asn260=)	TK2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2789011	NM_004614.5(TK2):c.619-17T>C	TK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2787478	NM_004614.5(TK2):c.538+11C>A	TK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2783693	NM_004614.5(TK2):c.352C>T (p.Leu118=)	TK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2783658	NM_004614.5(TK2):c.232-16T>C	TK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2783501	NM_004614.5(TK2):c.36G>A (p.Arg12=)	LOC130059156, TK2	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2782932	NM_004614.5(TK2):c.450-19C>T	TK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2782430	NM_004614.5(TK2):c.33C>T (p.Ala11=)	LOC130059156, TK2	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2779266	NM_004614.5(TK2):c.619-10T>C	TK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2776915	NM_004614.5(TK2):c.87C>T (p.Pro29=)	LOC130059156, TK2	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2775544	NM_004614.5(TK2):c.699+11C>T	TK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2771006	NM_004614.5(TK2):c.283C>T (p.Leu95=)	TK2	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2760618	NM_004614.5(TK2):c.45C>T (p.Arg15=)	LOC130059156, TK2	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2758017	NM_004614.5(TK2):c.34C>A (p.Arg12=)	LOC130059156, TK2 (R116L)	Single nucleotide variant (intron variant +4 more)	not provided	GLikely benign
Select item 2754539	NM_004614.5(TK2):c.156+7C>T	TK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2754482	NM_004614.5(TK2):c.86C>T (p.Pro29Leu)	LOC130059156, TK2 (G99R +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2753177	NM_004614.5(TK2):c.376-16T>C	TK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2750396	NM_004614.5(TK2):c.231+10C>G	TK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2748676	NM_004614.5(TK2):c.408T>A (p.Ile136=)	TK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2747147	NM_004614.5(TK2):c.124+7C>T	LOC130059156, TK2 (A84T)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely benign
Select item 2746740	NM_004614.5(TK2):c.375+14G>A	TK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2744857	NM_004614.5(TK2):c.114C>G (p.Ala38=)	LOC130059156, TK2 (Q89H)	Single nucleotide variant (missense variant +4 more)	not provided	GLikely benign
Select item 2744856	NM_004614.5(TK2):c.115del (p.Trp39fs)	LOC130059156, TK2 (W39fs)	Deletion (frameshift variant +3 more)	not provided	GPathogenic
Select item 2736366	NM_004614.5(TK2):c.157-2A>G	TK2	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely pathogenic
Select item 2736365	NM_004614.5(TK2):c.209T>C (p.Phe70Ser)	TK2 (F21S +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely pathogenic
Select item 2736364	NM_004614.5(TK2):c.349A>G (p.Met117Val)	TK2 (M117V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 2736362	NM_004614.5(TK2):c.644T>C (p.Leu215Pro)	TK2 (L215P +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 2733626	NM_004614.5(TK2):c.449+19T>C	TK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2727190	NM_004614.5(TK2):c.183T>C (p.Ser61=)	TK2	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2726887	NM_004614.5(TK2):c.700-8dup	TK2	Duplication (intron variant)	not provided	GLikely benign
Select item 2726415	NM_004614.5(TK2):c.213C>T (p.Ser71=)	TK2	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2719539	NM_004614.5(TK2):c.376-15T>C	TK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2718326	NM_004614.5(TK2):c.285+9G>A	TK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2716150	NM_004614.5(TK2):c.713_723del (p.Asp238fs)	TK2 (D141fs +5 more)	Deletion (non-coding transcript variant +2 more)	not provided	GPathogenic
Select item 2710253	NM_004614.5(TK2):c.157-6del	TK2	Deletion (intron variant)	not provided	GBenign

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