ClinVar for Gene (Select 2984) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3380094	NM_004963.4(GUCY2C):c.1797G>A (p.Lys599=)	GUCY2C	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3365411	NM_004963.4(GUCY2C):c.1444A>T (p.Asn482Tyr)	GUCY2C (N482Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3355029	NM_004963.4(GUCY2C):c.1645G>A (p.Gly549Ser)	GUCY2C (G549S)	Single nucleotide variant (missense variant)	GUCY2C-related disorder	GUncertain significance
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 3346527	NM_004963.4(GUCY2C):c.2302C>G (p.Leu768Val)	GUCY2C (L768V)	Single nucleotide variant (missense variant)	GUCY2C-related disorder	GUncertain significance
Select item 3343192	NM_004963.4(GUCY2C):c.1638G>T (p.Lys546Asn)	GUCY2C (K546N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3283170	NM_004963.4(GUCY2C):c.3151G>A (p.Ala1051Thr)	GUCY2C, PLBD1-AS1 (A1051T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3283169	NM_004963.4(GUCY2C):c.3044C>T (p.Thr1015Ile)	GUCY2C, LOC130007489 +1 more (T1015I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3283168	NM_004963.4(GUCY2C):c.1090G>A (p.Asp364Asn)	GUCY2C, GUCY2C-AS1 (D364N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3248563	NM_004963.4(GUCY2C):c.1345G>C (p.Val449Leu)	GUCY2C (V449L)	Single nucleotide variant (missense variant)	Congenital diarrhea 6	GUncertain significance
Select item 3244384	NC_000012.11:g.(?_14792776)_(14798269_?)del	GUCY2C	Deletion	not provided	GUncertain significance
Select item 3103303	NM_004963.4(GUCY2C):c.8C>T (p.Thr3Met)	GUCY2C, GUCY2C-AS1 (T3M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3103301	NM_004963.4(GUCY2C):c.1878G>C (p.Met626Ile)	GUCY2C (M626I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3103300	NM_004963.4(GUCY2C):c.1511G>A (p.Arg504Gln)	GUCY2C (R504Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3103298	NM_004963.4(GUCY2C):c.1239C>G (p.Phe413Leu)	GUCY2C, GUCY2C-AS1 (F413L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3103297	NM_004963.4(GUCY2C):c.1136T>C (p.Met379Thr)	GUCY2C, GUCY2C-AS1 (M379T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 3068064	NM_004963.4(GUCY2C):c.3049G>A (p.Glu1017Lys)	GUCY2C, PLBD1-AS1 (E1017K)	Single nucleotide variant (missense variant)	Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 3033238	NM_004963.4(GUCY2C):c.525G>A (p.Trp175Ter)	GUCY2C, GUCY2C-AS1 (W175*)	Single nucleotide variant (nonsense)	GUCY2C-related disorder	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 3019334	NM_004963.4(GUCY2C):c.1930+8A>G	GUCY2C	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3017260	NM_004963.4(GUCY2C):c.597T>A (p.Thr199=)	GUCY2C, GUCY2C-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017228	NM_004963.4(GUCY2C):c.93C>T (p.His31=)	GUCY2C, GUCY2C-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017210	NM_004963.4(GUCY2C):c.1682T>C (p.Ile561Thr)	GUCY2C (I561T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3012536	NM_004963.4(GUCY2C):c.36_45del (p.Leu13fs)	GUCY2C, GUCY2C-AS1 (L13fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3011235	NM_004963.4(GUCY2C):c.1981G>A (p.Gly661Arg)	GUCY2C (G661R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011127	NM_004963.4(GUCY2C):c.2158-17G>A	GUCY2C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010675	NM_004963.4(GUCY2C):c.1170+13del	GUCY2C, GUCY2C-AS1	Deletion (intron variant)	not provided	GLikely benign
Select item 3009573	NM_004963.4(GUCY2C):c.1223A>T (p.Asp408Val)	GUCY2C, GUCY2C-AS1 (D408V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005609	NM_004963.4(GUCY2C):c.1470+13T>A	GUCY2C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004715	NM_004963.4(GUCY2C):c.1420G>T (p.Glu474Ter)	GUCY2C (E474*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3001209	NM_004963.4(GUCY2C):c.1803G>A (p.Met601Ile)	GUCY2C (M601I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000859	NM_004963.4(GUCY2C):c.3035C>T (p.Thr1012Ile)	GUCY2C, LOC130007489 +1 more (T1012I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000612	NM_004963.4(GUCY2C):c.218-5G>A	GUCY2C, GUCY2C-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999940	NM_004963.4(GUCY2C):c.508T>G (p.Phe170Val)	GUCY2C, GUCY2C-AS1 (F170V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998309	NM_004963.4(GUCY2C):c.2783G>A (p.Cys928Tyr)	GUCY2C, PLBD1-AS1 (C928Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2997013	NM_004963.4(GUCY2C):c.2989_2995del (p.Thr997fs)	GUCY2C, PLBD1-AS1 (T997fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2993515	NM_004963.4(GUCY2C):c.843_844delinsGA (p.Phe281_Glu282delinsLeuLys)	GUCY2C, GUCY2C-AS1	Indel (missense variant)	not provided	GUncertain significance
Select item 2992451	NM_004963.4(GUCY2C):c.1283-17C>A	GUCY2C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991256	NM_004963.4(GUCY2C):c.3077T>G (p.Phe1026Cys)	GUCY2C, PLBD1-AS1 (F1026C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2991102	NM_004963.4(GUCY2C):c.663C>G (p.Gly221=)	GUCY2C, GUCY2C-AS1	Single nucleotide variant (synonymous 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 2986426	NM_004963.4(GUCY2C):c.1133C>T (p.Thr378Ile)	GUCY2C, GUCY2C-AS1 (T378I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986108	NM_004963.4(GUCY2C):c.2011C>T (p.Gln671Ter)	GUCY2C (Q671*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2985064	NM_004963.4(GUCY2C):c.955C>T (p.Arg319Ter)	GUCY2C, GUCY2C-AS1 (R319*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2984079	NM_004963.4(GUCY2C):c.1044C>T (p.Thr348=)	GUCY2C, GUCY2C-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2983389	NM_004963.4(GUCY2C):c.395+12T>C	GUCY2C, GUCY2C-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983072	NM_004963.4(GUCY2C):c.725A>G (p.Lys242Arg)	GUCY2C, GUCY2C-AS1 (K242R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982773	NM_004963.4(GUCY2C):c.170C>T (p.Ala57Val)	GUCY2C, GUCY2C-AS1 (A57V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979803	NM_004963.4(GUCY2C):c.1931-14G>A	GUCY2C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979420	NM_004963.4(GUCY2C):c.1170+16T>C	GUCY2C, GUCY2C-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978319	NM_004963.4(GUCY2C):c.1727C>A (p.Thr576Lys)	GUCY2C (T576K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978066	NM_004963.4(GUCY2C):c.2838G>C (p.Thr946=)	GUCY2C, PLBD1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	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 2975417	NM_004963.4(GUCY2C):c.2421G>A (p.Lys807=)	GUCY2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974093	NM_004963.4(GUCY2C):c.2409-17T>C	GUCY2C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973522	NM_004963.4(GUCY2C):c.1931-20C>T	GUCY2C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971608	NM_004963.4(GUCY2C):c.1278C>T (p.Gly426=)	GUCY2C, GUCY2C-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970890	NM_004963.4(GUCY2C):c.995T>C (p.Phe332Ser)	GUCY2C, GUCY2C-AS1 (F332S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969804	NM_004963.4(GUCY2C):c.366C>T (p.Pro122=)	GUCY2C, GUCY2C-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969768	NM_004963.4(GUCY2C):c.2069-11C>T	GUCY2C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969118	NM_004963.4(GUCY2C):c.229A>C (p.Thr77Pro)	GUCY2C, GUCY2C-AS1 (T77P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967859	NM_004963.4(GUCY2C):c.2875+8G>A	GUCY2C, PLBD1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2964558	NM_004963.4(GUCY2C):c.1391G>A (p.Arg464His)	GUCY2C (R464H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963654	NM_004963.4(GUCY2C):c.2970+5G>A	GUCY2C, PLBD1-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2961893	NM_004963.4(GUCY2C):c.1569T>A (p.Gly523=)	GUCY2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960565	NM_004963.4(GUCY2C):c.2158-4C>A	GUCY2C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959671	NM_004963.4(GUCY2C):c.276A>G (p.Ser92=)	GUCY2C, GUCY2C-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959377	NM_004963.4(GUCY2C):c.2439C>T (p.Gly813=)	GUCY2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958018	NM_004963.4(GUCY2C):c.3101T>C (p.Leu1034Ser)	GUCY2C, PLBD1-AS1 (L1034S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2956253	NM_004963.4(GUCY2C):c.3058C>T (p.Gln1020Ter)	GUCY2C, PLBD1-AS1 (Q1020*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2908808	NM_004963.4(GUCY2C):c.2779C>T (p.Pro927Ser)	GUCY2C, PLBD1-AS1 (P927S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2908333	NM_004963.4(GUCY2C):c.1327G>A (p.Val443Met)	GUCY2C (V443M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2907472	NM_004963.4(GUCY2C):c.2229T>C (p.Thr743=)	GUCY2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907424	NM_004963.4(GUCY2C):c.2864_2865delinsTA (p.Ser955Leu)	GUCY2C, PLBD1-AS1 (S955L)	Indel (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2906401	NM_004963.4(GUCY2C):c.1957C>T (p.Arg653Cys)	GUCY2C (R653C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2903080	NM_004963.4(GUCY2C):c.1282+1G>A	GUCY2C, GUCY2C-AS1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2899782	NM_004963.4(GUCY2C):c.1924A>G (p.Lys642Glu)	GUCY2C (K642E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2897315	NM_004963.4(GUCY2C):c.11T>C (p.Leu4Ser)	GUCY2C, GUCY2C-AS1 (L4S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896044	NM_004963.4(GUCY2C):c.803T>C (p.Ile268Thr)	GUCY2C, GUCY2C-AS1 (I268T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895577	NM_004963.4(GUCY2C):c.1494T>C (p.Asp498=)	GUCY2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894718	NM_004963.4(GUCY2C):c.1382A>G (p.Tyr461Cys)	GUCY2C (Y461C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2890849	NM_004963.4(GUCY2C):c.3096C>G (p.Asn1032Lys)	GUCY2C, PLBD1-AS1 (N1032K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2885624	NM_004963.4(GUCY2C):c.1200C>G (p.His400Gln)	GUCY2C, GUCY2C-AS1 (H400Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2883496	NM_004963.4(GUCY2C):c.2837C>T (p.Thr946Met)	GUCY2C, PLBD1-AS1 (T946M)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2882102	NM_004963.4(GUCY2C):c.1344C>T (p.Leu448=)	GUCY2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881035	NM_004963.4(GUCY2C):c.1287T>C (p.Pro429=)	GUCY2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2879431	NM_004963.4(GUCY2C):c.1605+11C>T	GUCY2C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2878719	NM_004963.4(GUCY2C):c.1055C>T (p.Ala352Val)	GUCY2C, GUCY2C-AS1 (A352V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2878529	NM_004963.4(GUCY2C):c.938A>G (p.Asn313Ser)	GUCY2C, GUCY2C-AS1 (N313S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2876886	NM_004963.4(GUCY2C):c.2876-8A>G	GUCY2C, PLBD1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876438	NM_004963.4(GUCY2C):c.862C>G (p.Pro288Ala)	GUCY2C, GUCY2C-AS1 (P288A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875551	NM_004963.4(GUCY2C):c.2340G>A (p.Glu780=)	GUCY2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872426	NM_004963.4(GUCY2C):c.1793C>T (p.Ala598Val)	GUCY2C (A598V)	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

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