ClinVar for MedGen (Select 338164) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1687491	NM_000362.5(TIMP3):c.454_455insGTA (p.Tyr152delinsCysAsn)	SYN3, TIMP3	Insertion (inframe_indel +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 931965	NM_000362.5(TIMP3):c.509C>G (p.Ser170Cys)	SYN3, TIMP3 (S170C)	Single nucleotide variant (missense variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 903604	NM_003490.4(SYN3):c.711+63401G>A	SYN3, TIMP3	Single nucleotide variant (intron variant)	Sorsby fundus dystrophy	GUncertain significance
Select item 903603	NM_003490.4(SYN3):c.711+63470T>G	TIMP3, SYN3	Single nucleotide variant (intron variant)	Sorsby fundus dystrophy	GUncertain significance
Select item 903602	NM_003490.4(SYN3):c.711+63673C>T	TIMP3, SYN3	Single nucleotide variant (intron variant)	Sorsby fundus dystrophy	GUncertain significance
Select item 902759	NM_000362.5(TIMP3):c.*3521C>T	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 902690	NM_000362.5(TIMP3):c.*2152G>T	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 902630	NM_000362.5(TIMP3):c.*690C>G	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 902629	NM_000362.5(TIMP3):c.*541T>C	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 901850	NM_000362.5(TIMP3):c.*3246G>A	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 901849	NM_000362.5(TIMP3):c.*3221A>G	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 901783	NM_000362.5(TIMP3):c.*2014C>A	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 901782	NM_000362.5(TIMP3):c.*1957A>G	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 901781	NM_000362.5(TIMP3):c.*1935G>A	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 901780	NM_000362.5(TIMP3):c.*1929A>G	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 901779	NM_000362.5(TIMP3):c.*1841C>A	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 901721	NM_000362.5(TIMP3):c.*320G>T	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 901720	NM_000362.5(TIMP3):c.*232T>C	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 901719	NM_000362.5(TIMP3):c.615C>T (p.Ile205=)	SYN3, TIMP3	Single nucleotide variant (synonymous variant +1 more)	Sorsby fundus dystrophy	GLikely benign
Select item 901302	NM_000362.5(TIMP3):c.*2943C>T	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 901301	NM_000362.5(TIMP3):c.*2763C>T	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 901300	NM_000362.5(TIMP3):c.*2698A>G	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 901238	NM_000362.5(TIMP3):c.*1802A>G	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 901237	NM_000362.5(TIMP3):c.*1504G>A	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 901169	NM_000362.5(TIMP3):c.171C>G (p.Phe57Leu)	SYN3, TIMP3 (F57L)	Single nucleotide variant (missense variant +1 more)	Sorsby fundus dystrophy +1 more	GUncertain significance
Select item 900141	NM_000362.5(TIMP3):c.*2424G>A	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 900076	NM_000362.5(TIMP3):c.*1188C>T	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 900075	NM_000362.5(TIMP3):c.*1115C>T	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 900074	NM_000362.5(TIMP3):c.*854G>A	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 900006	NM_000362.5(TIMP3):c.-274G>C	SYN3, TIMP3	Single nucleotide variant (5 prime UTR variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 900005	NM_000362.5(TIMP3):c.-284G>C	SYN3, TIMP3	Single nucleotide variant (5 prime UTR variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 341409	NM_000362.5(TIMP3):c.*3482C>T	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GBenign
Select item 341408	NM_000362.5(TIMP3):c.*3413C>T	TIMP3, SYN3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GBenign
Select item 341406	NM_000362.5(TIMP3):c.*3282C>T	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GBenign
Select item 341405	NM_000362.5(TIMP3):c.*3233T>A	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 341404	NM_000362.5(TIMP3):c.*3157T>C	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GBenign
Select item 341403	NM_000362.5(TIMP3):c.*3127T>C	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 341402	NM_000362.5(TIMP3):c.*3084T>C	SYN3, TIMP3	Single nucleotide variant (intron variant +1 more)	Sorsby fundus dystrophy	GBenign
Select item 341401	NM_000362.5(TIMP3):c.*3028G>A	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GBenign
Select item 341400	NM_000362.5(TIMP3):c.*3010G>A	TIMP3, SYN3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GBenign
Select item 341399	NM_000362.5(TIMP3):c.*2924T>C	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GBenign
Select item 341398	NM_000362.5(TIMP3):c.*2853G>A	SYN3, TIMP3	Single nucleotide variant (intron variant +1 more)	Sorsby fundus dystrophy	GBenign
Select item 341397	NM_000362.5(TIMP3):c.*2844C>T	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 341396	NM_000362.5(TIMP3):c.*2820G>A	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GLikely benign
Select item 341395	NM_000362.5(TIMP3):c.*2817T>C	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 341394	NM_000362.5(TIMP3):c.*2686C>T	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GBenign
Select item 341393	NM_000362.5(TIMP3):c.*2668T>C	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GBenign
Select item 341392	NM_000362.5(TIMP3):c.*2651T>C	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GBenign
Select item 341391	NM_000362.5(TIMP3):c.*2566C>T	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 341390	NM_000362.5(TIMP3):c.*2544G>A	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GBenign
Select item 341389	NM_000362.5(TIMP3):c.*2519T>G	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 341388	NM_000362.5(TIMP3):c.*2413G>T	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GBenign
Select item 341387	NM_000362.5(TIMP3):c.*2356C>T	SYN3, TIMP3	Single nucleotide variant (intron variant +1 more)	Sorsby fundus dystrophy	GBenign
Select item 341386	NM_000362.5(TIMP3):c.*2314C>T	TIMP3, SYN3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 341385	NM_000362.5(TIMP3):c.*2313C>A	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GBenign
Select item 341384	NM_000362.5(TIMP3):c.*2280T>C	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 341383	NM_000362.5(TIMP3):c.*2188C>T	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GBenign
Select item 341382	NM_000362.5(TIMP3):c.*2122C>G	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GBenign
Select item 341381	NM_000362.5(TIMP3):c.*2103C>T	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GBenign
Select item 341380	NM_000362.5(TIMP3):c.*2033G>T	SYN3, TIMP3	Single nucleotide variant (intron variant +1 more)	Sorsby fundus dystrophy	GBenign
Select item 341377	NM_000362.5(TIMP3):c.*1958T>C	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GBenign
Select item 341376	NM_000362.5(TIMP3):c.*1900C>T	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GBenign
Select item 341373	NM_000362.5(TIMP3):c.*1796G>A	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 341372	NM_000362.5(TIMP3):c.*1792A>G	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 341371	NM_000362.5(TIMP3):c.*1783A>G	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 341370	NM_000362.5(TIMP3):c.*1717A>G	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GBenign
Select item 341368	NM_000362.5(TIMP3):c.*1681T>C	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 341363	NM_000362.5(TIMP3):c.*1495G>A	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GBenign
Select item 341362	NM_000362.5(TIMP3):c.*1297T>C	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 341361	NM_000362.5(TIMP3):c.*1242G>A	TIMP3, SYN3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GBenign
Select item 341360	NM_000362.5(TIMP3):c.*1179T>C	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 341359	NM_000362.5(TIMP3):c.*990G>A	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 341358	NM_000362.5(TIMP3):c.*930T>C	SYN3, TIMP3	Single nucleotide variant (intron variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 341357	NM_000362.5(TIMP3):c.*795A>G	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 341356	NM_000362.5(TIMP3):c.*615C>T	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GBenign
Select item 341355	NM_000362.5(TIMP3):c.*541T>A	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 341354	NM_000362.5(TIMP3):c.*538G>T	TIMP3, SYN3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GBenign
Select item 341353	NM_000362.5(TIMP3):c.*529G>A	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 341352	NM_000362.5(TIMP3):c.*506G>A	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 341350	NM_000362.5(TIMP3):c.*105C>A	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 341349	NM_000362.5(TIMP3):c.*87T>C	SYN3, TIMP3	Single nucleotide variant (3 prime UTR variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 341348	NM_000362.5(TIMP3):c.587G>A (p.Arg196Gln)	TIMP3, SYN3 (R196Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 341347	NM_000362.5(TIMP3):c.516C>T (p.Phe172=)	SYN3, TIMP3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 341346	NM_000362.5(TIMP3):c.439-12A>T	SYN3, TIMP3	Single nucleotide variant (intron variant)	Sorsby fundus dystrophy	GUncertain significance
Select item 341345	NM_000362.5(TIMP3):c.439-12A>G	SYN3, TIMP3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 341344	NM_000362.5(TIMP3):c.289G>A (p.Val97Ile)	SYN3, TIMP3 (V97I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 341343	NM_000362.5(TIMP3):c.261C>T (p.Ser87=)	SYN3, TIMP3	Single nucleotide variant (synonymous variant +1 more)	Sorsby fundus dystrophy +1 more	GBenign
Select item 341342	NM_000362.5(TIMP3):c.121+4A>G	SYN3, TIMP3	Single nucleotide variant (intron variant)	Sorsby fundus dystrophy	GUncertain significance
Select item 341341	NM_000362.5(TIMP3):c.-105G>C	SYN3, TIMP3	Single nucleotide variant (5 prime UTR variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 341340	NM_000362.5(TIMP3):c.-117G>A	SYN3, TIMP3	Single nucleotide variant (5 prime UTR variant +1 more)	Sorsby fundus dystrophy	GBenign
Select item 341339	NM_000362.5(TIMP3):c.-270G>T	SYN3, TIMP3	Single nucleotide variant (5 prime UTR variant +1 more)	Sorsby fundus dystrophy	GUncertain significance
Select item 341338	NM_003490.4(SYN3):c.711+63217C>T	SYN3, TIMP3	Single nucleotide variant (intron variant)	Sorsby fundus dystrophy	GUncertain significance
Select item 341337	NM_003490.4(SYN3):c.711+63243G>A	SYN3, TIMP3	Single nucleotide variant (intron variant)	Sorsby fundus dystrophy	GUncertain significance
Select item 341336	NM_003490.4(SYN3):c.711+63303G>T	SYN3, TIMP3	Single nucleotide variant (intron variant)	Sorsby fundus dystrophy	GUncertain significance
Select item 341335	NM_003490.4(SYN3):c.711+63320C>T	SYN3, TIMP3	Single nucleotide variant (intron variant)	Sorsby fundus dystrophy	GUncertain significance
Select item 341334	NM_003490.4(SYN3):c.711+63346G>A	SYN3, TIMP3	Single nucleotide variant (intron variant)	Sorsby fundus dystrophy	GUncertain significance
Select item 341333	NM_003490.4(SYN3):c.711+63384G>T	SYN3, TIMP3	Single nucleotide variant (intron variant)	Sorsby fundus dystrophy	GBenign
Select item 341332	NM_003490.4(SYN3):c.711+63446C>T	SYN3, TIMP3	Single nucleotide variant (intron variant)	Sorsby fundus dystrophy	GBenign
Select item 341331	NM_003490.4(SYN3):c.711+63597A>G	SYN3, TIMP3	Single nucleotide variant (intron variant)	Sorsby fundus dystrophy	GUncertain significance
Select item 341330	NM_003490.4(SYN3):c.711+63811A>G	SYN3, TIMP3	Single nucleotide variant (intron variant)	Sorsby fundus dystrophy	GLikely benign

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