Related gene-specific medical variations for Gene (Select 3767) - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3241788	NM_000525.4(KCNJ11):c.368del (p.Phe123fs)	KCNJ11 (F123fs +1 more)	Deletion (frameshift variant)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 3241787	NM_000525.4(KCNJ11):c.808del (p.Leu270fs)	KCNJ11 (L183fs +1 more)	Deletion (frameshift variant)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 3241786	NM_000525.4(KCNJ11):c.703C>T (p.Gln235Ter)	KCNJ11 (Q148* +1 more)	Single nucleotide variant (nonsense)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 3239673	NM_000525.4(KCNJ11):c.1090del (p.Ala364fs)	KCNJ11 (A277fs +1 more)	Deletion (frameshift variant)	Hyperinsulinemic hypoglycemia, familial, 2	GLikely pathogenic
Select item 2689289	NM_000525.4(KCNJ11):c.259G>A (p.Ala87Thr)	KCNJ11 (A87T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2676211	NM_000525.4(KCNJ11):c.491_494dup (p.Cys166fs)	KCNJ11 (C166fs +1 more)	Duplication (frameshift variant)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2676210	NM_000525.4(KCNJ11):c.844G>T (p.Glu282Ter)	KCNJ11 (E195* +1 more)	Single nucleotide variant (nonsense)	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 2676208	NM_000525.4(KCNJ11):c.270G>A (p.Trp90Ter)	KCNJ11 (W3* +1 more)	Single nucleotide variant (nonsense)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2676207	NM_000525.4(KCNJ11):c.816_829del (p.Ser273fs)	KCNJ11 (S186fs +1 more)	Deletion (frameshift variant)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2676206	NM_000525.4(KCNJ11):c.399del (p.Phe133fs)	KCNJ11 (F133fs +1 more)	Deletion (frameshift variant)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2676205	NM_000525.4(KCNJ11):c.286G>A (p.Ala96Thr)	KCNJ11 (A96T +1 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2676204	NM_000525.4(KCNJ11):c.639del (p.Thr214fs)	KCNJ11 (T127fs +1 more)	Deletion (frameshift variant)	Type 2 diabetes mellitus	GLikely pathogenic
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 2584620	NM_000525.4(KCNJ11):c.61C>A (p.Pro21Thr)	KCNJ11 (P21T)	Single nucleotide variant (missense variant +2 more)	Type 1 diabetes mellitus 20 +3 more	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 2501786	NM_000525.4(KCNJ11):c.112A>G (p.Lys38Glu)	KCNJ11 (K38E)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 2	GLikely pathogenic
Select item 2433001	NM_000525.4(KCNJ11):c.229A>G (p.Met77Val)	KCNJ11 (M77V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2433000	NM_000525.4(KCNJ11):c.650T>C (p.Met217Thr)	KCNJ11 (M130T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1679518	NM_000525.4(KCNJ11):c.-154G>A	KCNJ11	Single nucleotide variant (5 prime UTR variant +1 more)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 1676326	NM_000525.4(KCNJ11):c.570C>A (p.Ala190=)	KCNJ11	Single nucleotide variant	Type 2 diabetes mellitus	Gassociation not found
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 1525999	NM_000525.4(KCNJ11):c.754G>T (p.Val252Leu)	KCNJ11 (V165L +1 more)	Single nucleotide variant (missense variant)	Neonatal diabetes mellitus	GLikely pathogenic
Select item 1525998	NM_000525.4(KCNJ11):c.190G>A (p.Val64Met)	KCNJ11 (V64M)	Single nucleotide variant (missense variant +1 more)	Neonatal diabetes mellitus	GLikely pathogenic
Select item 992026	NM_000525.4(KCNJ11):c.905C>T (p.Thr302Ile)	KCNJ11 (T215I +1 more)	Single nucleotide variant (missense variant)	Diabetes mellitus, transient neonatal, 3 +4 more	GUncertain significance
Select item 989949	NM_000525.4(KCNJ11):c.-6G>A	KCNJ11	Single nucleotide variant (5 prime UTR variant +1 more)	Permanent neonatal diabetes mellitus	GUncertain significance
Select item 801368	NM_000525.4(KCNJ11):c.28G>C (p.Glu10Gln)	KCNJ11 (E10Q)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 21202	NM_000525.4(KCNJ11):c.886A>G (p.Ile296Val)	KCNJ11 (I296V +1 more)	Single nucleotide variant (missense variant)	Permanent neonatal diabetes mellitus	Gnot provided
Select item 21199	NM_000525.4(KCNJ11):c.602G>T (p.Arg201Leu)	KCNJ11 (R201L +1 more)	Single nucleotide variant (missense variant)	Permanent neonatal diabetes mellitus	Gnot provided
Select item 21197	NM_000525.4(KCNJ11):c.497G>A (p.Cys166Tyr)	KCNJ11 (C166Y +1 more)	Single nucleotide variant (missense variant)	Permanent neonatal diabetes mellitus	Gnot provided
Select item 21195	NM_000525.4(KCNJ11):c.103T>G (p.Phe35Val)	KCNJ11 (F35V)	Single nucleotide variant (missense variant +1 more)	Permanent neonatal diabetes mellitus	Gnot provided

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Links from Gene

Items: 31