"KCNJ12-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3060814	NM_021012.5(KCNJ12):c.9G>A (p.Ala3=)	KCNJ12	Single nucleotide variant (synonymous variant)	KCNJ12-related disorder	GBenign
Select item 3058910	NM_021012.5(KCNJ12):c.44C>T (p.Ser15Leu)	KCNJ12 (S15L)	Single nucleotide variant (missense variant)	KCNJ12-related disorder	GBenign
Select item 3060191	NM_021012.5(KCNJ12):c.87C>T (p.Asn29=)	KCNJ12	Single nucleotide variant (synonymous variant)	KCNJ12-related disorder	GBenign
Select item 3046911	NM_021012.5(KCNJ12):c.99C>T (p.Asn33=)	KCNJ12	Single nucleotide variant (synonymous variant)	KCNJ12-related disorder	GLikely benign
Select item 3059989	NM_021012.5(KCNJ12):c.106G>T (p.Val36Leu)	KCNJ12 (V36L)	Single nucleotide variant (missense variant)	KCNJ12-related disorder	GBenign
Select item 3059461	NM_021012.5(KCNJ12):c.116G>A (p.Arg39Gln)	KCNJ12 (R39Q)	Single nucleotide variant (missense variant)	KCNJ12-related disorder	GBenign
Select item 3060108	NM_021012.5(KCNJ12):c.128G>A (p.Arg43His)	KCNJ12 (R43H)	Single nucleotide variant (missense variant)	KCNJ12-related disorder	GBenign
Select item 3059012	NM_021012.5(KCNJ12):c.167A>C (p.Glu56Ala)	KCNJ12 (E56A)	Single nucleotide variant (missense variant)	KCNJ12-related disorder	GBenign
Select item 3059688	NM_021012.5(KCNJ12):c.213G>A (p.Met71Ile)	KCNJ12 (M71I)	Single nucleotide variant (missense variant)	KCNJ12-related disorder	GBenign
Select item 3029931	NM_021012.5(KCNJ12):c.231C>T (p.Asp77=)	KCNJ12	Single nucleotide variant (synonymous variant)	KCNJ12-related disorder	GLikely benign
Select item 3059453	NM_021012.5(KCNJ12):c.243G>C (p.Arg81=)	KCNJ12	Single nucleotide variant (synonymous variant)	KCNJ12-related disorder	GBenign
Select item 3058999	NM_021012.5(KCNJ12):c.258C>A (p.Ile86=)	KCNJ12	Single nucleotide variant (synonymous variant)	KCNJ12-related disorder	GBenign
Select item 3059946	NM_021012.5(KCNJ12):c.264G>A (p.Ser88=)	KCNJ12	Single nucleotide variant (synonymous variant)	KCNJ12-related disorder	GBenign
Select item 3060028	NM_021012.5(KCNJ12):c.294C>T (p.Phe98=)	KCNJ12	Single nucleotide variant (synonymous variant)	KCNJ12-related disorder	GBenign
Select item 3058989	NM_021012.5(KCNJ12):c.297C>T (p.Gly99=)	KCNJ12	Single nucleotide variant (synonymous variant)	KCNJ12-related disorder	GBenign
Select item 3060590	NM_021012.5(KCNJ12):c.298A>G (p.Ile100Val)	KCNJ12 (I100V)	Single nucleotide variant (missense variant)	KCNJ12-related disorder	GBenign
Select item 3060196	NM_021012.5(KCNJ12):c.315C>T (p.Ile105=)	KCNJ12	Single nucleotide variant (synonymous variant)	KCNJ12-related disorder	GBenign
Select item 3059994	NM_021012.5(KCNJ12):c.327C>T (p.His109=)	KCNJ12	Single nucleotide variant (synonymous variant)	KCNJ12-related disorder	GBenign
Select item 3060653	NM_021012.5(KCNJ12):c.353G>A (p.Arg118Gln)	KCNJ12 (R118Q)	Single nucleotide variant (missense variant)	KCNJ12-related disorder	GBenign
Select item 3060394	NM_021012.5(KCNJ12):c.354G>C (p.Arg118=)	KCNJ12	Single nucleotide variant (synonymous variant)	KCNJ12-related disorder	GBenign
Select item 3047136	NM_021012.5(KCNJ12):c.366C>T (p.Pro122=)	KCNJ12	Single nucleotide variant (synonymous variant)	KCNJ12-related disorder	GLikely benign
Select item 3056839	NM_021012.5(KCNJ12):c.384C>T (p.His128=)	KCNJ12	Single nucleotide variant (synonymous variant)	KCNJ12-related disorder	GLikely benign
Select item 3059260	NM_021012.5(KCNJ12):c.415G>A (p.Glu139Lys)	KCNJ12 (E139K)	Single nucleotide variant (missense variant)	KCNJ12-related disorder	GBenign
Select item 3059873	NM_021012.5(KCNJ12):c.425C>A (p.Thr142Asn)	KCNJ12 (T142N)	Single nucleotide variant (missense variant)	KCNJ12-related disorder	GBenign
Select item 3060615	NM_021012.5(KCNJ12):c.433G>A (p.Gly145Ser)	KCNJ12 (G145S)	Single nucleotide variant (missense variant)	KCNJ12-related disorder	GBenign
Select item 3058880	NM_021012.5(KCNJ12):c.456G>A (p.Thr152=)	KCNJ12	Single nucleotide variant (synonymous variant)	KCNJ12-related disorder	GBenign
Select item 3043241	NM_021012.5(KCNJ12):c.459G>A (p.Glu153=)	KCNJ12	Single nucleotide variant (synonymous variant)	KCNJ12-related disorder	GLikely benign
Select item 3059270	NM_021012.5(KCNJ12):c.467C>T (p.Pro156Leu)	KCNJ12 (P156L)	Single nucleotide variant (missense variant)	KCNJ12-related disorder	GBenign
Select item 3060279	NM_021012.5(KCNJ12):c.517G>A (p.Asp173Asn)	KCNJ12 (D173N)	Single nucleotide variant (missense variant)	KCNJ12-related disorder	GBenign
Select item 3060232	NM_021012.5(KCNJ12):c.554C>T (p.Ala185Val)	KCNJ12 (A185V)	Single nucleotide variant (missense variant)	KCNJ12-related disorder	GBenign
Select item 3046305	NM_021012.5(KCNJ12):c.561C>A (p.Pro187=)	KCNJ12	Single nucleotide variant (synonymous variant)	KCNJ12-related disorder	GLikely benign
Select item 3048211	NM_021012.5(KCNJ12):c.568C>A (p.Arg190=)	KCNJ12	Single nucleotide variant (synonymous variant)	KCNJ12-related disorder	GLikely benign
Select item 3060052	NM_021012.5(KCNJ12):c.576G>C (p.Gln192His)	KCNJ12 (Q192H)	Single nucleotide variant (missense variant)	KCNJ12-related disorder	GBenign
Select item 3047960	NM_021012.5(KCNJ12):c.579G>A (p.Thr193=)	KCNJ12	Single nucleotide variant (synonymous variant)	KCNJ12-related disorder	GLikely benign
Select item 3060600	NM_021012.5(KCNJ12):c.597C>T (p.Asn199=)	KCNJ12	Single nucleotide variant (synonymous variant)	KCNJ12-related disorder	GBenign
Select item 3060818	NM_021012.5(KCNJ12):c.618C>T (p.Asp206=)	KCNJ12	Single nucleotide variant (synonymous variant)	KCNJ12-related disorder	GBenign
Select item 3059938	NM_021012.5(KCNJ12):c.631C>T (p.Leu211Phe)	KCNJ12 (L211F)	Single nucleotide variant (missense variant)	KCNJ12-related disorder	GBenign
Select item 3059683	NM_021012.5(KCNJ12):c.648T>C (p.Gly216=)	KCNJ12	Single nucleotide variant (synonymous variant)	KCNJ12-related disorder	GBenign
Select item 3059540	NM_021012.5(KCNJ12):c.657C>T (p.Arg219=)	KCNJ12	Single nucleotide variant (synonymous variant)	KCNJ12-related disorder	GBenign
Select item 3035714	NM_021012.5(KCNJ12):c.705G>A (p.Pro235=)	KCNJ12	Single nucleotide variant (synonymous variant)	KCNJ12-related disorder	GLikely benign
Select item 3040161	NM_021012.5(KCNJ12):c.714C>T (p.Thr238=)	KCNJ12	Single nucleotide variant (synonymous variant)	KCNJ12-related disorder	GLikely benign
Select item 3059158	NM_021012.5(KCNJ12):c.715G>A (p.Glu239Lys)	KCNJ12 (E239K)	Single nucleotide variant (missense variant)	KCNJ12-related disorder	GBenign
Select item 3059958	NM_021012.5(KCNJ12):c.738G>A (p.Leu246=)	KCNJ12	Single nucleotide variant (synonymous variant)	KCNJ12-related disorder	GBenign
Select item 3059482	NM_021012.5(KCNJ12):c.745A>G (p.Ile249Val)	KCNJ12 (I249V)	Single nucleotide variant (missense variant)	KCNJ12-related disorder	GBenign
Select item 3060918	NM_021012.5(KCNJ12):c.753C>T (p.Ile251=)	KCNJ12	Single nucleotide variant (synonymous variant)	KCNJ12-related disorder	GBenign

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Items: 45