GUCY2C[gene] and "single gene"[properties] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 337

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2628971	NM_004963.4(GUCY2C):c.2776+5G>A	GUCY2C	Single nucleotide variant (intron variant)	GUCY2C-related disorder	GUncertain significance
Select item 2022071	NM_004963.4(GUCY2C):c.2766A>G (p.Gly922=)	GUCY2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888260	NM_004963.4(GUCY2C):c.2762T>C (p.Ile921Thr)	GUCY2C (I921T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1333345	NM_004963.4(GUCY2C):c.2758C>T (p.Arg920Cys)	GUCY2C (R920C)	Single nucleotide variant (missense variant)	Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency +1 more	GUncertain significance
Select item 2792027	NM_004963.4(GUCY2C):c.2757T>A (p.Ile919=)	GUCY2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642756	NM_004963.4(GUCY2C):c.2718del (p.Phe907fs)	GUCY2C (F907fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1610512	NM_004963.4(GUCY2C):c.2718C>T (p.Thr906=)	GUCY2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2612548	NM_004963.4(GUCY2C):c.2705G>A (p.Ser902Asn)	GUCY2C (S902N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1423185	NM_004963.4(GUCY2C):c.2704A>G (p.Ser902Gly)	GUCY2C (S902G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2013400	NM_004963.4(GUCY2C):c.2703C>G (p.Leu901=)	GUCY2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2744138	NM_004963.4(GUCY2C):c.2695G>A (p.Glu899Lys)	GUCY2C (E899K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1506617	NM_004963.4(GUCY2C):c.2689G>A (p.Ala897Thr)	GUCY2C (A897T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1974415	NM_004963.4(GUCY2C):c.2671A>G (p.Ile891Val)	GUCY2C (I891V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1511090	NM_004963.4(GUCY2C):c.2663G>A (p.Arg888Gln)	GUCY2C (R888Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1921149	NM_004963.4(GUCY2C):c.2662del (p.Arg888fs)	GUCY2C (R888fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 745237	NM_004963.4(GUCY2C):c.2662C>T (p.Arg888Trp)	GUCY2C (R888W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1482709	NM_004963.4(GUCY2C):c.2660A>G (p.Asn887Ser)	GUCY2C (N887S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2804513	NM_004963.4(GUCY2C):c.2649G>C (p.Lys883Asn)	GUCY2C (K883N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1918483	NM_004963.4(GUCY2C):c.2631G>A (p.Val877=)	GUCY2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3352821	NM_004963.4(GUCY2C):c.2622G>A (p.Ala874=)	GUCY2C	Single nucleotide variant (synonymous variant)	GUCY2C-related disorder	GLikely benign
Select item 2977785	NM_004963.4(GUCY2C):c.2613C>T (p.Ile871=)	GUCY2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2760412	NM_004963.4(GUCY2C):c.2610C>T (p.Thr870=)	GUCY2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 728491	NM_004963.4(GUCY2C):c.2604G>A (p.Val868=)	GUCY2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2751086	NM_004963.4(GUCY2C):c.2602-1G>C	GUCY2C	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2786419	NM_004963.4(GUCY2C):c.2602-2A>G	GUCY2C	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1919771	NM_004963.4(GUCY2C):c.2602-3C>T	GUCY2C	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1105228	NM_004963.4(GUCY2C):c.2602-8T>G	GUCY2C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1973707	NM_004963.4(GUCY2C):c.2602-19T>G	GUCY2C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1242581	NM_004963.4(GUCY2C):c.2602-99C>G	GUCY2C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294966	NM_004963.4(GUCY2C):c.2601+90A>T	GUCY2C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2128612	NM_004963.4(GUCY2C):c.2601+12A>G	GUCY2C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1665307	NM_004963.4(GUCY2C):c.2601+9A>G	GUCY2C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2801749	NM_004963.4(GUCY2C):c.2597A>C (p.Tyr866Ser)	GUCY2C (Y866S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2062647	NM_004963.4(GUCY2C):c.2592T>A (p.Asp864Glu)	GUCY2C (D864E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1516526	NM_004963.4(GUCY2C):c.2590G>A (p.Asp864Asn)	GUCY2C (D864N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2130811	NM_004963.4(GUCY2C):c.2581G>A (p.Asp861Asn)	GUCY2C (D861N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 985648	NM_004963.4(GUCY2C):c.2575A>G (p.Ile859Val)	GUCY2C (I859V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2880999	NM_004963.4(GUCY2C):c.2572C>A (p.His858Asn)	GUCY2C (H858N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1018581	NM_004963.4(GUCY2C):c.2564G>C (p.Ser855Thr)	GUCY2C (S855T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1370625	NM_004963.4(GUCY2C):c.2563A>C (p.Ser855Arg)	GUCY2C (S855R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2704846	NM_004963.4(GUCY2C):c.2559T>C (p.Tyr853=)	GUCY2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2740187	NM_004963.4(GUCY2C):c.2551G>A (p.Asp851Asn)	GUCY2C (D851N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2105420	NM_004963.4(GUCY2C):c.2537T>C (p.Val846Ala)	GUCY2C (V846A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1512868	NM_004963.4(GUCY2C):c.2533G>A (p.Val845Met)	GUCY2C (V845M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2011583	NM_004963.4(GUCY2C):c.2522C>A (p.Thr841Asn)	GUCY2C (T841N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2796867	NM_004963.4(GUCY2C):c.2505T>C (p.Thr835=)	GUCY2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1902978	NM_004963.4(GUCY2C):c.2504C>T (p.Thr835Ile)	GUCY2C (T835I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1952959	NM_004963.4(GUCY2C):c.2481C>A (p.Phe827Leu)	GUCY2C (F827L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1719005	NM_004963.4(GUCY2C):c.2468T>C (p.Val823Ala)	GUCY2C (V823A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3020385	NM_004963.4(GUCY2C):c.2457A>G (p.Leu819=)	GUCY2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 746452	NM_004963.4(GUCY2C):c.2454A>G (p.Glu818=)	GUCY2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1594763	NM_004963.4(GUCY2C):c.2451G>A (p.Pro817=)	GUCY2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2782959	NM_004963.4(GUCY2C):c.2448G>A (p.Glu816=)	GUCY2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1474365	NM_004963.4(GUCY2C):c.2443G>A (p.Val815Met)	GUCY2C (V815M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1917310	NM_004963.4(GUCY2C):c.2441T>C (p.Phe814Ser)	GUCY2C (F814S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2959377	NM_004963.4(GUCY2C):c.2439C>T (p.Gly813=)	GUCY2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1502505	NM_004963.4(GUCY2C):c.2431G>T (p.Glu811Ter)	GUCY2C (E811*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2975417	NM_004963.4(GUCY2C):c.2421G>A (p.Lys807=)	GUCY2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 751583	NM_004963.4(GUCY2C):c.2409-6A>G	GUCY2C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1420314	NM_004963.4(GUCY2C):c.2409-10G>A	GUCY2C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988908	NM_004963.4(GUCY2C):c.2409-16C>T	GUCY2C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1965807	NM_004963.4(GUCY2C):c.2409-17dup	GUCY2C	Duplication (intron variant)	not provided	GBenign
Select item 2974093	NM_004963.4(GUCY2C):c.2409-17T>C	GUCY2C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1294976	NM_004963.4(GUCY2C):c.2409-83A>G	GUCY2C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257671	NM_004963.4(GUCY2C):c.2409-129C>T	GUCY2C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233651	NM_004963.4(GUCY2C):c.2408+282C>T	GUCY2C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220641	NM_004963.4(GUCY2C):c.2408+280C>T	GUCY2C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2031040	NM_004963.4(GUCY2C):c.2408+15G>A	GUCY2C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2861015	NM_004963.4(GUCY2C):c.2408+7C>T	GUCY2C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1946373	NM_004963.4(GUCY2C):c.2403T>A (p.Leu801=)	GUCY2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3357994	NM_004963.4(GUCY2C):c.2386C>T (p.Leu796Phe)	GUCY2C (L796F)	Single nucleotide variant (missense variant)	GUCY2C-related disorder	GUncertain significance
Select item 1444249	NM_004963.4(GUCY2C):c.2384G>A (p.Arg795Lys)	GUCY2C (R795K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1037779	NM_004963.4(GUCY2C):c.2381A>T (p.Asp794Val)	GUCY2C (D794V)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2274493	NM_004963.4(GUCY2C):c.2375G>A (p.Arg792Lys)	GUCY2C (R792K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 761160	NM_004963.4(GUCY2C):c.2364A>G (p.Ala788=)	GUCY2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1480749	NM_004963.4(GUCY2C):c.2359A>C (p.Lys787Gln)	GUCY2C (K787Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1526101	NM_004963.4(GUCY2C):c.2356T>C (p.Tyr786His)	GUCY2C (Y786H)	Single nucleotide variant (missense variant)	Congenital diarrhea 6	GUncertain significance
Select item 768533	NM_004963.4(GUCY2C):c.2355G>C (p.Leu785=)	GUCY2C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1462634	NM_004963.4(GUCY2C):c.2353C>A (p.Leu785Met)	GUCY2C (L785M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 738987	NM_004963.4(GUCY2C):c.2350C>A (p.Gln784Lys)	GUCY2C (Q784K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2875551	NM_004963.4(GUCY2C):c.2340G>A (p.Glu780=)	GUCY2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2124400	NM_004963.4(GUCY2C):c.2339A>G (p.Glu780Gly)	GUCY2C (E780G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2700106	NM_004963.4(GUCY2C):c.2334G>T (p.Leu778=)	GUCY2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3075691	NM_004963.4(GUCY2C):c.2328A>C (p.Glu776Asp)	GUCY2C (E776D)	Single nucleotide variant (missense variant)	Congenital diarrhea 6	GLikely pathogenic
Select item 376780	NM_004963.4(GUCY2C):c.2318G>A (p.Arg773Gln)	GUCY2C (R773Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871587	NM_004963.4(GUCY2C):c.2310A>G (p.Leu770=)	GUCY2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3346527	NM_004963.4(GUCY2C):c.2302C>G (p.Leu768Val)	GUCY2C (L768V)	Single nucleotide variant (missense variant)	GUCY2C-related disorder	GUncertain significance
Select item 1448004	NM_004963.4(GUCY2C):c.2300G>A (p.Arg767His)	GUCY2C (R767H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2427864	NM_004963.4(GUCY2C):c.2296C>T (p.Arg766Ter)	GUCY2C (R766*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1031485	NM_004963.4(GUCY2C):c.2279A>G (p.Tyr760Cys)	GUCY2C (Y760C)	Single nucleotide variant (missense variant)	Congenital diarrhea 6 +1 more	GUncertain significance
Select item 1517370	NM_004963.4(GUCY2C):c.2275A>G (p.Ser759Gly)	GUCY2C (S759G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983538	NM_004963.4(GUCY2C):c.2267A>G (p.Lys756Arg)	GUCY2C (K756R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870476	NM_004963.4(GUCY2C):c.2262C>A (p.Asp754Glu)	GUCY2C (D754E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1678281	NM_004963.4(GUCY2C):c.2259T>A (p.His753Gln)	GUCY2C (H753Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1088790	NM_004963.4(GUCY2C):c.2256T>C (p.Phe752=)	GUCY2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1043746	NM_004963.4(GUCY2C):c.2252T>A (p.Leu751His)	GUCY2C (L751H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2098739	NM_004963.4(GUCY2C):c.2251C>A (p.Leu751Ile)	GUCY2C (L751I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 718878	NM_004963.4(GUCY2C):c.2251C>G (p.Leu751Val)	GUCY2C (L751V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 750622	NM_004963.4(GUCY2C):c.2250-7C>T	GUCY2C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1674088	NM_004963.4(GUCY2C):c.2250-12T>C	GUCY2C	Single nucleotide variant (intron variant)	not provided	GLikely benign

<< First< Prev

Page of 4