3767[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	CHID1, CHRNA10 +917 more	Copy number gain	See cases	GPathogenic
Select item 303707	NM_000525.4(KCNJ11):c.*1562A>G	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinemic hypoglycemia, familial, 2 +3 more	GUncertain significance
Select item 1679514	NM_000525.4(KCNJ11):c.*1415G>C	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 877473	NM_000525.4(KCNJ11):c.*1415G>A	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 13 +2 more	GUncertain significance
Select item 877474	NM_000525.4(KCNJ11):c.*1220G>A	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 13 +3 more	GUncertain significance
Select item 303708	NM_000525.4(KCNJ11):c.*1197G>A	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinemic hypoglycemia, familial, 2 +4 more	GConflicting classifications of pathogenicity
Select item 303709	NM_000525.4(KCNJ11):c.*1168G>A	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 13 +4 more	GConflicting classifications of pathogenicity
Select item 303710	NM_000525.4(KCNJ11):c.*1055T>A	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinemic hypoglycemia, familial, 2 +3 more	GUncertain significance
Select item 879076	NM_000525.4(KCNJ11):c.*1037G>T	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +3 more	GUncertain significance
Select item 303711	NM_000525.4(KCNJ11):c.*937C>T	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinemic hypoglycemia, familial, 2 +3 more	GUncertain significance
Select item 303712	NM_000525.4(KCNJ11):c.*862G>T	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 13 +3 more	GConflicting classifications of pathogenicity
Select item 880301	NM_000525.4(KCNJ11):c.*849C>G	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +3 more	GUncertain significance
Select item 877518	NM_000525.4(KCNJ11):c.*848A>G	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +3 more	GConflicting classifications of pathogenicity
Select item 877519	NM_000525.4(KCNJ11):c.*842C>G	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +3 more	GUncertain significance
Select item 303713	NM_000525.4(KCNJ11):c.826_827dup	KCNJ11	Duplication (3 prime UTR variant)	Maturity onset diabetes mellitus in young +2 more	GUncertain significance
Select item 877520	NM_000525.4(KCNJ11):c.*766G>A	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 13 +4 more	GConflicting classifications of pathogenicity
Select item 303714	NM_000525.4(KCNJ11):c.*732C>T	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +3 more	GUncertain significance
Select item 303715	NM_000525.4(KCNJ11):c.*701A>T	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinemic hypoglycemia, familial, 2 +3 more	GUncertain significance
Select item 303716	NM_000525.4(KCNJ11):c.*697G>A	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 13 +3 more	GConflicting classifications of pathogenicity
Select item 303717	NM_000525.4(KCNJ11):c.*686A>G	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 13 +3 more	GConflicting classifications of pathogenicity
Select item 303718	NM_000525.4(KCNJ11):c.*678C>T	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinemic hypoglycemia, familial, 2 +3 more	GUncertain significance
Select item 303719	NM_000525.4(KCNJ11):c.*546G>A	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +3 more	GUncertain significance
Select item 303720	NM_000525.4(KCNJ11):c.*529G>A	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 13 +3 more	GConflicting classifications of pathogenicity
Select item 303721	NM_000525.4(KCNJ11):c.*487A>G	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 13 +4 more	GConflicting classifications of pathogenicity
Select item 303722	NM_000525.4(KCNJ11):c.*441T>C	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinemic hypoglycemia, familial, 2 +4 more	GConflicting classifications of pathogenicity
Select item 303723	NM_000525.4(KCNJ11):c.*376C>T	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 13 +4 more	GConflicting classifications of pathogenicity
Select item 303724	NM_000525.4(KCNJ11):c.*311C>T	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinemic hypoglycemia, familial, 2 +3 more	GUncertain significance
Select item 303725	NM_000525.4(KCNJ11):c.*288G>A	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 13 +4 more	GConflicting classifications of pathogenicity
Select item 303726	NM_000525.4(KCNJ11):c.*218G>T	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinemic hypoglycemia, familial, 2 +5 more	GUncertain significance
Select item 303727	NM_000525.4(KCNJ11):c.*215C>T	KCNJ11	Single nucleotide variant (3 prime UTR variant)	not provided +4 more	GBenign/Likely benign
Select item 303728	NM_000525.4(KCNJ11):c.*99C>G	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +3 more	GUncertain significance
Select item 303729	NM_000525.4(KCNJ11):c.*92C>T	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 13 +4 more	GConflicting classifications of pathogenicity
Select item 303730	NM_000525.4(KCNJ11):c.*76G>A	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 13 +4 more	GConflicting classifications of pathogenicity
Select item 303731	NM_000525.4(KCNJ11):c.*62G>A	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 13 +3 more	GConflicting classifications of pathogenicity
Select item 303732	NM_000525.4(KCNJ11):c.*50G>A	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinemic hypoglycemia, familial, 2 +3 more	GUncertain significance
Select item 303733	NM_000525.4(KCNJ11):c.*40C>T	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinemic hypoglycemia, familial, 2 +3 more	GConflicting classifications of pathogenicity
Select item 877617	NM_000525.4(KCNJ11):c.1172G>A (p.Ter391=)	KCNJ11	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +4 more	GConflicting classifications of pathogenicity
Select item 1594478	NM_000525.4(KCNJ11):c.1167G>A (p.Leu389=)	KCNJ11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1669571	NM_000525.4(KCNJ11):c.1164C>G (p.Ser388=)	KCNJ11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1080948	NM_000525.4(KCNJ11):c.1161T>C (p.Asp387=)	KCNJ11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2059676	NM_000525.4(KCNJ11):c.1155T>A (p.Ser385=)	KCNJ11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1135610	NM_000525.4(KCNJ11):c.1155T>C (p.Ser385=)	KCNJ11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1998703	NM_000525.4(KCNJ11):c.1154C>T (p.Ser385Phe)	KCNJ11 (S298F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 36430	NM_000525.4(KCNJ11):c.1154C>G (p.Ser385Cys)	KCNJ11 (S385C +1 more)	Single nucleotide variant (missense variant)	Hyperinsulinemic hypoglycemia, familial, 2 +7 more	GConflicting classifications of pathogenicity
Select item 1337692	NM_000525.4(KCNJ11):c.1152C>T (p.Ile384=)	KCNJ11	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2179514	NM_000525.4(KCNJ11):c.1149C>T (p.Ser383=)	KCNJ11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 211222	NM_000525.3(KCNJ11):c.1138_1143dup (p.Lys381_Phe382insProLys)	KCNJ11	Duplication (inframe_insertion)	not specified +7 more	GUncertain significance
Select item 158672	NM_000525.4(KCNJ11):c.1143G>A (p.Lys381=)	KCNJ11	Single nucleotide variant (synonymous variant)	Hyperinsulinemia +5 more	GConflicting classifications of pathogenicity
Select item 1626686	NM_000525.4(KCNJ11):c.1131G>A (p.Lys377=)	KCNJ11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 992022	NM_000525.4(KCNJ11):c.1126G>T (p.Ala376Ser)	KCNJ11 (A289S +1 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 193109	NM_000525.4(KCNJ11):c.1123A>G (p.Met375Val)	KCNJ11 (M375V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 992023	NM_000525.4(KCNJ11):c.1117G>A (p.Val373Met)	KCNJ11 (V286M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1080991	NM_000525.4(KCNJ11):c.1116C>T (p.Ser372=)	KCNJ11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 554088	NM_000525.4(KCNJ11):c.1112G>A (p.Arg371His)	KCNJ11 (R371H +1 more)	Single nucleotide variant (missense variant)	Permanent neonatal diabetes mellitus +3 more	GUncertain significance
Select item 1691378	NM_000525.4(KCNJ11):c.1106G>A (p.Arg369His)	KCNJ11 (R282H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1338240	NM_000525.4(KCNJ11):c.1106G>T (p.Arg369Leu)	KCNJ11 (R282L +1 more)	Single nucleotide variant (missense variant)	Hyperinsulinemic hypoglycemia, familial, 2 +5 more	GUncertain significance
Select item 992024	NM_000525.4(KCNJ11):c.1105C>T (p.Arg369Cys)	KCNJ11 (R282C +1 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 2046522	NM_000525.4(KCNJ11):c.1096G>A (p.Gly366Arg)	KCNJ11 (G366R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 256362	NM_000525.4(KCNJ11):c.1095C>T (p.Arg365=)	KCNJ11	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 13 +6 more	GConflicting classifications of pathogenicity
Select item 2798311	NM_000525.4(KCNJ11):c.1094G>T (p.Arg365Leu)	KCNJ11 (R365L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 551506	NM_000525.4(KCNJ11):c.1094G>A (p.Arg365His)	KCNJ11 (R365H +1 more)	Single nucleotide variant (missense variant)	Permanent neonatal diabetes mellitus +3 more	GUncertain significance
Select item 287827	NM_000525.4(KCNJ11):c.1093C>T (p.Arg365Cys)	KCNJ11 (R365C +1 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +4 more	GUncertain significance
Select item 1654031	NM_000525.4(KCNJ11):c.1092C>T (p.Ala364=)	KCNJ11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3055416	NM_000525.4(KCNJ11):c.1091C>T (p.Ala364Val)	KCNJ11 (A277V +1 more)	Single nucleotide variant (missense variant)	KCNJ11-related disorder	GUncertain significance
Select item 1962252	NM_000525.4(KCNJ11):c.1088_1089inv (p.Ser363Leu)	KCNJ11 (S276L +1 more)	Inversion (missense variant)	not provided +1 more	GUncertain significance
Select item 1933614	NM_000525.4(KCNJ11):c.1089A>T (p.Ser363=)	KCNJ11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 158671	NM_000525.4(KCNJ11):c.1089A>G (p.Ser363=)	KCNJ11	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 1112984	NM_000525.4(KCNJ11):c.1086C>T (p.Ala362=)	KCNJ11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1386763	NM_000525.4(KCNJ11):c.1084G>A (p.Ala362Thr)	KCNJ11 (A362T +1 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 1628453	NM_000525.4(KCNJ11):c.1083C>T (p.Leu361=)	KCNJ11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 795264	NM_000525.4(KCNJ11):c.1077G>A (p.Leu359=)	KCNJ11	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 555247	NM_000525.4(KCNJ11):c.1064dup (p.Leu356fs)	KCNJ11 (L356fs +1 more)	Duplication (frameshift variant)	Permanent neonatal diabetes mellitus +3 more	GConflicting classifications of pathogenicity
Select item 211220	NM_000525.4(KCNJ11):c.1064T>C (p.Leu355Pro)	KCNJ11 (L355P +1 more)	Single nucleotide variant (missense variant)	Hyperinsulinemic hypoglycemia, familial, 2 +4 more	GUncertain significance
Select item 723182	NM_000525.4(KCNJ11):c.1062C>T (p.Ser354=)	KCNJ11	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 2664738	NM_000525.4(KCNJ11):c.1058A>G (p.His353Arg)	KCNJ11 (H266R +1 more)	Single nucleotide variant (missense variant)	Hyperinsulinemic hypoglycemia, familial, 2	GUncertain significance
Select item 2503226	NM_000525.4(KCNJ11):c.1056C>A (p.Asp352Glu)	KCNJ11 (D265E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501800	NM_000525.4(KCNJ11):c.1046T>C (p.Leu349Pro)	KCNJ11 (L262P +1 more)	Single nucleotide variant (missense variant)	Hyperinsulinemic hypoglycemia, familial, 2 +1 more	GUncertain significance
Select item 917414	NM_000525.4(KCNJ11):c.1044G>C (p.Gln348His)	KCNJ11 (Q261H +1 more)	Single nucleotide variant (missense variant)	Diabetes mellitus, transient neonatal, 3 +6 more	GUncertain significance
Select item 1915057	NM_000525.4(KCNJ11):c.1041C>T (p.Arg347=)	KCNJ11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 553036	NM_000525.4(KCNJ11):c.1040G>A (p.Arg347His)	KCNJ11 (R347H +1 more)	Single nucleotide variant (missense variant)	not specified +10 more	GUncertain significance
Select item 2156201	NM_000525.4(KCNJ11):c.1039C>T (p.Arg347Cys)	KCNJ11 (R347C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1810027	NM_000525.4(KCNJ11):c.1037C>T (p.Ala346Val)	KCNJ11 (A259V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1619103	NM_000525.4(KCNJ11):c.1035G>A (p.Thr345=)	KCNJ11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 303734	NM_000525.4(KCNJ11):c.1034C>T (p.Thr345Met)	KCNJ11 (T345M +1 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 13 +3 more	GConflicting classifications of pathogenicity
Select item 2876978	NM_000525.4(KCNJ11):c.1024C>T (p.Pro342Ser)	KCNJ11 (P255S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1972330	NM_000525.4(KCNJ11):c.1020C>T (p.Pro340=)	KCNJ11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2504984	NM_000525.4(KCNJ11):c.1019C>A (p.Pro340His)	KCNJ11 (P253H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1607360	NM_000525.4(KCNJ11):c.1017G>A (p.Val339=)	KCNJ11	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 211219	NM_000525.4(KCNJ11):c.1017G>T (p.Val339=)	KCNJ11	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 550169	NM_000525.4(KCNJ11):c.1016T>G (p.Val339Gly)	KCNJ11 (V339G +1 more)	Single nucleotide variant (missense variant)	KCNJ11-related disorder +6 more	GUncertain significance
Select item 1539337	NM_000525.4(KCNJ11):c.1008_1009delinsAA (p.Val337Ile)	KCNJ11 (V250I +1 more)	Indel (missense variant)	not provided	GLikely benign
Select item 158670	NM_000525.4(KCNJ11):c.1009G>A (p.Val337Ile)	KCNJ11 (V337I +1 more)	Single nucleotide variant (missense variant)	Hyperinsulinemic hypoglycemia, familial, 2 +5 more	GBenign/Likely benign
Select item 1108964	NM_000525.4(KCNJ11):c.1008C>T (p.Thr336=)	KCNJ11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 992025	NM_000525.4(KCNJ11):c.1005C>A (p.Asn335Lys)	KCNJ11 (N248K +1 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 1526000	NM_000525.4(KCNJ11):c.1001G>T (p.Gly334Val)	KCNJ11 (G247V +1 more)	Single nucleotide variant (missense variant)	Neonatal diabetes mellitus	GLikely pathogenic
Select item 21193	NM_000525.4(KCNJ11):c.1001G>A (p.Gly334Asp)	KCNJ11 (G334D +1 more)	Single nucleotide variant (missense variant)	Transitory neonatal diabetes mellitus	GBenign
Select item 21205	NM_000525.4(KCNJ11):c.997T>A (p.Phe333Ile)	KCNJ11 (F333I +1 more)	Single nucleotide variant (missense variant)	Neonatal hypoglycemia	GBenign
Select item 2676203	NM_000525.4(KCNJ11):c.993dup (p.Lys332fs)	KCNJ11 (K245fs +1 more)	Duplication (frameshift variant)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2676209	NM_000525.4(KCNJ11):c.991_992del (p.Ser331fs)	KCNJ11 (S244fs +1 more)	Deletion (frameshift variant)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 1338465	NM_000525.4(KCNJ11):c.992C>G (p.Ser331Cys)	KCNJ11 (S244C +1 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 13 +2 more	GUncertain significance

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