2984[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 more	Copy number gain	See cases	GPathogenic
Select item 154815	GRCh38/hg38 12p13.2-12.3(chr12:11121039-15908154)x1	APOLD1, ARHGDIB +238 more	Copy number loss	See cases	GLikely pathogenic
Select item 146005	GRCh38/hg38 12p13.2-12.3(chr12:12363649-15280588)x1	APOLD1, ARHGDIB +137 more	Copy number loss	See cases	GPathogenic
Select item 58986	GRCh38/hg38 12p13.2-12.3(chr12:12388842-15540422)x1	APOLD1, ARHGDIB +140 more	Copy number loss	See cases	GPathogenic
Select item 782874	NM_004963.4(GUCY2C):c.3215A>G (p.Tyr1072Cys)	GUCY2C, PLBD1-AS1 (Y1072C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2722012	NM_004963.4(GUCY2C):c.3201C>A (p.Asp1067Glu)	GUCY2C, PLBD1-AS1 (D1067E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2104784	NM_004963.4(GUCY2C):c.3195C>G (p.Thr1065=)	GUCY2C, PLBD1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1539496	NM_004963.4(GUCY2C):c.3189G>A (p.Leu1063=)	GUCY2C, PLBD1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2837770	NM_004963.4(GUCY2C):c.3173T>C (p.Leu1058Pro)	GUCY2C, PLBD1-AS1 (L1058P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1939953	NM_004963.4(GUCY2C):c.3171T>C (p.Thr1057=)	GUCY2C, PLBD1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1391376	NM_004963.4(GUCY2C):c.3146G>A (p.Arg1049Gln)	GUCY2C, PLBD1-AS1 (R1049Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1520722	NM_004963.4(GUCY2C):c.3145C>T (p.Arg1049Trp)	GUCY2C, PLBD1-AS1 (R1049W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1585871	NM_004963.4(GUCY2C):c.3141C>G (p.Pro1047=)	GUCY2C, PLBD1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 735631	NM_004963.4(GUCY2C):c.3123G>C (p.Gly1041=)	GUCY2C, PLBD1-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 1461726	NM_004963.4(GUCY2C):c.3095A>C (p.Asn1032Thr)	GUCY2C, PLBD1-AS1 (N1032T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2528163	NM_004963.4(GUCY2C):c.3085A>C (p.Met1029Leu)	GUCY2C, PLBD1-AS1 (M1029L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1020157	NM_004963.4(GUCY2C):c.3067C>T (p.Gln1023Ter)	GUCY2C, PLBD1-AS1 (Q1023*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2073348	NM_004963.4(GUCY2C):c.3062G>A (p.Arg1021His)	GUCY2C, PLBD1-AS1 (R1021H)	Single nucleotide variant (missense variant)	not provided	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 1973762	NM_004963.4(GUCY2C):c.3050A>T (p.Glu1017Val)	GUCY2C, PLBD1-AS1 (E1017V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2064573	NM_004963.4(GUCY2C):c.3048-7T>G	GUCY2C, PLBD1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1133985	NM_004963.4(GUCY2C):c.3048-12C>A	GUCY2C, PLBD1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2742749	NM_004963.4(GUCY2C):c.3048-14C>T	GUCY2C, PLBD1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1906850	NM_004963.4(GUCY2C):c.3048-19C>G	GUCY2C, PLBD1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2819056	NM_004963.4(GUCY2C):c.3048-20T>C	GUCY2C, PLBD1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267944	NM_004963.4(GUCY2C):c.3047+242C>G	GUCY2C, PLBD1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1631748	NM_004963.4(GUCY2C):c.3047+18G>A	GUCY2C, PLBD1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1978423	NM_004963.4(GUCY2C):c.3047+9C>T	GUCY2C, LOC130007489 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2697378	NM_004963.4(GUCY2C):c.3041C>T (p.Pro1014Leu)	GUCY2C, LOC130007489 +1 more (P1014L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1441131	NM_004963.4(GUCY2C):c.3038C>G (p.Pro1013Arg)	GUCY2C, LOC130007489 +1 more (P1013R)	Single nucleotide variant (missense variant)	not provided +1 more	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 1991186	NM_004963.4(GUCY2C):c.3035C>A (p.Thr1012Asn)	GUCY2C, LOC130007489 +1 more (T1012N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2830500	NM_004963.4(GUCY2C):c.3023del (p.Phe1008fs)	GUCY2C, LOC130007489 +1 more (F1008fs)	Deletion (frameshift variant)	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 1949966	NM_004963.4(GUCY2C):c.2991C>G (p.Thr997=)	GUCY2C, PLBD1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2793002	NM_004963.4(GUCY2C):c.2971-9T>G	GUCY2C, PLBD1-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2020367	NM_004963.4(GUCY2C):c.2971-18A>C	GUCY2C, PLBD1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287874	NM_004963.4(GUCY2C):c.2971-21G>A	GUCY2C, PLBD1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177882	NM_004963.4(GUCY2C):c.2970+99C>T	PLBD1-AS1, GUCY2C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1579227	NM_004963.4(GUCY2C):c.2970+9T>A	GUCY2C, PLBD1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1447419	NM_004963.4(GUCY2C):c.2970+2_2970+6del	GUCY2C, PLBD1-AS1	Deletion (splice donor 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 2557252	NM_004963.4(GUCY2C):c.2959A>C (p.Thr987Pro)	GUCY2C, PLBD1-AS1 (T987P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523739	NM_004963.4(GUCY2C):c.2947G>A (p.Val983Met)	GUCY2C, PLBD1-AS1 (V983M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1366583	NM_004963.4(GUCY2C):c.2943T>G (p.Tyr981Ter)	GUCY2C, PLBD1-AS1 (Y981*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2146889	NM_004963.4(GUCY2C):c.2934G>C (p.Gln978His)	GUCY2C, PLBD1-AS1 (Q978H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2808988	NM_004963.4(GUCY2C):c.2920A>G (p.Arg974Gly)	GUCY2C, PLBD1-AS1 (R974G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1405658	NM_004963.4(GUCY2C):c.2912T>C (p.Ile971Thr)	GUCY2C, PLBD1-AS1 (I971T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2080586	NM_004963.4(GUCY2C):c.2906T>C (p.Ile969Thr)	GUCY2C, PLBD1-AS1 (I969T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 775307	NM_004963.4(GUCY2C):c.2891T>C (p.Val964Ala)	GUCY2C, PLBD1-AS1 (V964A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1985135	NM_004963.4(GUCY2C):c.2890G>T (p.Val964Leu)	GUCY2C, PLBD1-AS1 (V964L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1397567	NM_004963.4(GUCY2C):c.2890G>A (p.Val964Met)	GUCY2C, PLBD1-AS1 (V964M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2132178	NM_004963.4(GUCY2C):c.2887C>T (p.His963Tyr)	GUCY2C, PLBD1-AS1 (H963Y)	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 1244398	NM_004963.4(GUCY2C):c.2876-244G>A	GUCY2C, PLBD1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249175	NM_004963.4(GUCY2C):c.2876-246C>G	GUCY2C, PLBD1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241391	NM_004963.4(GUCY2C):c.2875+254A>T	GUCY2C, PLBD1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1696494	NM_004963.4(GUCY2C):c.2875+99A>G	GUCY2C, PLBD1-AS1	Single nucleotide variant (intron variant)	Congenital diarrhea 6	GUncertain significance
Select item 2777629	NM_004963.4(GUCY2C):c.2875+15T>C	GUCY2C, PLBD1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1660936	NM_004963.4(GUCY2C):c.2875+14_2875+15del	GUCY2C, PLBD1-AS1	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
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 742371	NM_004963.4(GUCY2C):c.2868T>C (p.Thr956=)	GUCY2C, PLBD1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	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 1661005	NM_004963.4(GUCY2C):c.2841C>T (p.Val947=)	GUCY2C, PLBD1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 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 1966460	NM_004963.4(GUCY2C):c.2837C>A (p.Thr946Lys)	GUCY2C, PLBD1-AS1 (T946K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2124067	NM_004963.4(GUCY2C):c.2834A>G (p.Asp945Gly)	GUCY2C, PLBD1-AS1 (D945G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1965283	NM_004963.4(GUCY2C):c.2833G>A (p.Asp945Asn)	GUCY2C, PLBD1-AS1 (D945N)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1984183	NM_004963.4(GUCY2C):c.2820T>C (p.Tyr940=)	GUCY2C, PLBD1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2619406	NM_004963.4(GUCY2C):c.2816G>A (p.Arg939His)	GUCY2C, PLBD1-AS1 (R939H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 1963413	NM_004963.4(GUCY2C):c.2815C>T (p.Arg939Cys)	GUCY2C, PLBD1-AS1 (R939C)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2414801	NM_004963.4(GUCY2C):c.2813C>T (p.Pro938Leu)	GUCY2C, PLBD1-AS1 (P938L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 1445623	NM_004963.4(GUCY2C):c.2795T>C (p.Val932Ala)	GUCY2C, PLBD1-AS1 (V932A)	Single nucleotide variant (non-coding transcript variant +1 more)	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 161159	NM_004963.4(GUCY2C):c.2782T>C (p.Cys928Arg)	C12orf60, GUCY2C +1 more (C928R)	Single nucleotide variant (non-coding transcript variant +1 more)	Meconium ileus	GPathogenic
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 2800905	NM_004963.4(GUCY2C):c.2777-5T>C	GUCY2C, PLBD1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1628068	NM_004963.4(GUCY2C):c.2777-10_2777-8del	GUCY2C, PLBD1-AS1	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1633156	NM_004963.4(GUCY2C):c.2777-19T>C	GUCY2C, PLBD1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1672701	NM_004963.4(GUCY2C):c.2777-20C>T	GUCY2C, PLBD1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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

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