Related gene-specific medical variations for Gene (Select 111674472) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 372

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3231887	NM_000492.4(CFTR):c.3367+7T>G	CFTR, LOC111674472	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 3231886	NM_000492.4(CFTR):c.3360A>C (p.Leu1120Phe)	CFTR, LOC111674472 (L1120F)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231885	NM_000492.4(CFTR):c.3340G>A (p.Val1114Ile)	CFTR, LOC111674472 (V1114I)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231883	NM_000492.4(CFTR):c.3329T>G (p.Phe1110Cys)	CFTR, LOC111674472 (F1110C)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231881	NM_000492.4(CFTR):c.3264C>T (p.Asn1088=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3231880	NM_000492.4(CFTR):c.3244C>T (p.Leu1082=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3231879	NM_000492.4(CFTR):c.3242C>G (p.Ala1081Gly)	CFTR, LOC111674472 (A1081G)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231878	NM_000492.4(CFTR):c.3140-3C>T	CFTR, LOC111674472	Single nucleotide variant (intron variant)	Cystic fibrosis	GUncertain significance
Select item 3231877	NM_000492.4(CFTR):c.3113A>G (p.Gln1038Arg)	CFTR, LOC111674472 (Q1038R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231875	NM_000492.4(CFTR):c.2989-4A>G	CFTR, LOC111674472	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 3064503	NM_000492.4(CFTR):c.3293G>C (p.Trp1098Ser)	CFTR, LOC111674472 (W1098S)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 3015894	NM_000492.4(CFTR):c.3045C>T (p.Ile1015=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3014427	NM_000492.4(CFTR):c.3042C>T (p.Tyr1014=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2967154	NM_000492.4(CFTR):c.3003G>A (p.Val1001=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2919850	NM_000492.4(CFTR):c.3226A>G (p.Thr1076Ala)	CFTR, LOC111674472 (T1076A)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 2916577	NM_000492.4(CFTR):c.3141C>G (p.Gly1047=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2915068	NM_000492.4(CFTR):c.3340G>C (p.Val1114Leu)	CFTR, LOC111674472 (V1114L)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 2911715	NM_000492.4(CFTR):c.3139+17G>A	CFTR, LOC111674472	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2888793	NM_000492.4(CFTR):c.2989-3C>T	CFTR, LOC111674472	Single nucleotide variant (intron variant)	Cystic fibrosis	GUncertain significance
Select item 2888510	NM_000492.4(CFTR):c.3213G>A (p.Gln1071=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2886042	NM_000492.4(CFTR):c.3129G>A (p.Leu1043=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2885338	NM_000492.4(CFTR):c.3093A>T (p.Ala1031=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2884831	NM_000492.4(CFTR):c.3367+18_3367+23del	CFTR, LOC111674472	Deletion (intron variant)	Cystic fibrosis	GLikely benign
Select item 2860604	NM_000492.4(CFTR):c.3281C>G (p.Ser1094Ter)	CFTR, LOC111674472 (S1094*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 2856759	NM_000492.4(CFTR):c.3290G>C (p.Arg1097Pro)	CFTR, LOC111674472 (R1097P)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 2855762	NM_000492.4(CFTR):c.3351_3352del (p.Ser1118fs)	CFTR, LOC111674472 (S1118fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 2845642	NM_000492.4(CFTR):c.3184C>T (p.Leu1062=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2812835	NM_000492.4(CFTR):c.3367+1G>T	CFTR, LOC111674472	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GLikely pathogenic
Select item 2809738	NM_000492.4(CFTR):c.2989-6T>C	CFTR, LOC111674472	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2808233	NM_000492.4(CFTR):c.3202T>G (p.Phe1068Val)	CFTR, LOC111674472 (F1068V)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 2804446	NM_000492.4(CFTR):c.3367+19C>T	CFTR, LOC111674472	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2735083	NM_000492.4(CFTR):c.3287del (p.Leu1096fs)	CFTR, LOC111674472 (L1096fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 2725212	NM_000492.4(CFTR):c.3192_3276del (p.Leu1065fs)	CFTR, LOC111674472 (L1065fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 2724988	NM_000492.4(CFTR):c.3367+10A>G	CFTR, LOC111674472	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2721393	NM_000492.4(CFTR):c.3140-16T>C	CFTR, LOC111674472	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2702950	NM_000492.4(CFTR):c.3367+9A>G	CFTR, LOC111674472	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2681867	NM_000492.4(CFTR):c.3139+25C>T	CFTR, LOC111674472	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2680715	NM_000492.4(CFTR):c.3330del (p.Phe1111fs)	CFTR, LOC111674472 (F1111fs)	Deletion (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1	GLikely pathogenic
Select item 2680708	NM_000492.4(CFTR):c.3078del (p.Phe1026fs)	CFTR, LOC111674472 (F1026fs)	Deletion (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1	GLikely pathogenic
Select item 2657961	NM_000492.4(CFTR):c.3367+215_3367+258del	CFTR, LOC111674472	Deletion (intron variant)	not provided	GLikely benign
Select item 2624960	NM_000492.4(CFTR):c.3270C>G (p.Phe1090Leu)	CFTR, LOC111674472 (F1090L)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 2587608	NM_000492.4(CFTR):c.3142A>C (p.Arg1048=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2577297	NM_000492.4(CFTR):c.3106A>G (p.Thr1036Ala)	CFTR, LOC111674472 (T1036A)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 2567903	NM_000492.4(CFTR):c.3070G>A (p.Val1024Met)	CFTR, LOC111674472 (V1024M)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 2567890	NM_000492.4(CFTR):c.3076T>G (p.Phe1026Val)	CFTR, LOC111674472 (F1026V)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 2567884	NM_000492.4(CFTR):c.3065T>G (p.Val1022Gly)	CFTR, LOC111674472 (V1022G)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 2567883	NM_000492.4(CFTR):c.3063A>G (p.Pro1021=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2567862	NM_000492.4(CFTR):c.3308T>G (p.Ile1103Arg)	CFTR, LOC111674472 (I1103R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 2562525	NM_000492.4(CFTR):c.3277C>G (p.Leu1093Val)	CFTR, LOC111674472 (L1093V)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GUncertain significance
Select item 2503924	NM_000492.4(CFTR):c.3140-11A>G	CFTR, LOC111674472	Single nucleotide variant (intron variant)	Cystic fibrosis	GConflicting classifications of pathogenicity
Select item 2496643	NM_000492.4(CFTR):c.3125A>G (p.Gln1042Arg)	CFTR, LOC111674472 (Q1042R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 2453664	NM_000492.4(CFTR):c.3280T>C (p.Ser1094Pro)	CFTR, LOC111674472 (S1094P)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 2453660	NM_000492.4(CFTR):c.3297C>T (p.Phe1099=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2453634	NM_000492.4(CFTR):c.3186A>T (p.Leu1062=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2453633	NM_000492.4(CFTR):c.3306A>C (p.Arg1102Ser)	CFTR, LOC111674472 (R1102S)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 2453628	NM_000492.4(CFTR):c.3326T>C (p.Ile1109Thr)	CFTR, LOC111674472 (I1109T)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 2453626	NM_000492.4(CFTR):c.3146G>A (p.Ser1049Asn)	CFTR, LOC111674472 (S1049N)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 2453615	NM_000492.4(CFTR):c.3286C>T (p.Leu1096=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis +1 more	GLikely benign
Select item 2447423	NM_000492.4(CFTR):c.3034C>A (p.Gln1012Lys)	CFTR, LOC111674472 (Q1012K)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 2447415	NM_000492.4(CFTR):c.3025G>T (p.Ala1009Ser)	CFTR, LOC111674472 (A1009S)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely benign
Select item 2443363	NM_000492.4(CFTR):c.3119T>C (p.Leu1040Pro)	CFTR, LOC111674472 (L1040P)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 2202637	NM_000492.4(CFTR):c.3175T>C (p.Leu1059=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2110687	NM_000492.4(CFTR):c.3120C>T (p.Leu1040=)	LOC111674472, CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2055056	NM_000492.4(CFTR):c.3139+10T>C	CFTR, LOC111674472	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2039209	NM_000492.4(CFTR):c.3279G>T (p.Leu1093=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2032842	NM_000492.4(CFTR):c.3303_3304delinsAG (p.Met1101_Arg1102delinsIleGly)	CFTR, LOC111674472	Indel (missense variant)	Cystic fibrosis	GPathogenic
Select item 2009608	NM_000492.4(CFTR):c.3027A>T (p.Ala1009=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 1999649	NM_000492.4(CFTR):c.3285A>G (p.Thr1095=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 1982198	NM_000492.4(CFTR):c.3139+42A>G	CFTR, LOC111674472	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 1945482	NM_000492.4(CFTR):c.3009A>C (p.Gly1003=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 1905338	NM_000492.4(CFTR):c.3162T>A (p.His1054Gln)	CFTR, LOC111674472 (H1054Q)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1902957	NM_000492.4(CFTR):c.3081T>A (p.Ile1027=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 1902310	NM_000492.4(CFTR):c.3349A>C (p.Ile1117Leu)	CFTR, LOC111674472 (I1117L)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1809553	NM_000492.4(CFTR):c.3007G>A (p.Gly1003Arg)	CFTR, LOC111674472 (G1003R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1801402	NM_000492.4(CFTR):c.3367+201_3367+243del	CFTR, LOC111674472	Deletion (intron variant)	Schizophrenia	GUncertain significance
Select item 1799432	NM_000492.4(CFTR):c.3066G>A (p.Val1022=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 1799423	NM_000492.4(CFTR):c.3065T>C (p.Val1022Ala)	CFTR, LOC111674472 (V1022A)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1799374	NM_000492.4(CFTR):c.3060G>T (p.Val1020=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 1799193	NM_000492.4(CFTR):c.3045C>A (p.Ile1015=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 1799175	NM_000492.4(CFTR):c.3043A>G (p.Ile1015Val)	CFTR, LOC111674472 (I1015V)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1799079	NM_000492.4(CFTR):c.3035A>G (p.Gln1012Arg)	CFTR, LOC111674472 (Q1012R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1798973	NM_000492.4(CFTR):c.3027A>G (p.Ala1009=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 1798835	NM_000492.4(CFTR):c.3014T>C (p.Ile1005Thr)	CFTR, LOC111674472 (I1005T)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1798748	NM_000492.4(CFTR):c.3006T>A (p.Ile1002=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 1798739	NM_000492.4(CFTR):c.3005T>C (p.Ile1002Thr)	CFTR, LOC111674472 (I1002T)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1798698	NM_000492.4(CFTR):c.3000T>C (p.Ile1000=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 1798552	NM_000492.4(CFTR):c.2994A>T (p.Leu998Phe)	LOC111674472, CFTR (L998F)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1798548	NM_000492.4(CFTR):c.2994A>C (p.Leu998Phe)	LOC111674472, CFTR (L998F)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1730540	NM_000492.4(CFTR):c.3355A>T (p.Ile1119Phe)	CFTR, LOC111674472 (I1119F)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1730485	NM_000492.4(CFTR):c.3349A>G (p.Ile1117Val)	CFTR, LOC111674472 (I1117V)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1730217	NM_000492.4(CFTR):c.3322G>A (p.Val1108Ile)	CFTR, LOC111674472 (V1108I)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1729644	NM_000492.4(CFTR):c.3273G>A (p.Leu1091=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 1729579	NM_000492.4(CFTR):c.3266G>T (p.Trp1089Leu)	CFTR, LOC111674472 (W1089L)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1729377	NM_000492.4(CFTR):c.3249T>C (p.Asn1083=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 1729353	NM_000492.4(CFTR):c.3247A>G (p.Asn1083Asp)	CFTR, LOC111674472 (N1083D)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1729236	NM_000492.4(CFTR):c.3235C>T (p.His1079Tyr)	CFTR, LOC111674472 (H1079Y)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1729121	NM_000492.4(CFTR):c.3226A>C (p.Thr1076Pro)	CFTR, LOC111674472 (T1076P)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1728981	NM_000492.4(CFTR):c.3215C>A (p.Pro1072His)	CFTR, LOC111674472 (P1072H)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1728682	NM_000492.4(CFTR):c.3192A>T (p.Thr1064=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 1728586	NM_000492.4(CFTR):c.3186A>G (p.Leu1062=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign

<< First< Prev

Page of 4