KCNJ3[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146076	GRCh38/hg38 2q22.3-24.1(chr2:143900149-158321624)x3	ACVR1, ACVR1C +238 more	Copy number gain	See cases	GPathogenic
Select item 154515	GRCh38/hg38 2q22.3-24.1(chr2:146324191-156219125)x3	ACVR2A, ARL5A +146 more	Copy number gain	See cases	GPathogenic
Select item 60216	GRCh38/hg38 2q22.3-24.1(chr2:147251948-157856378)x1	ACVR1, ACVR1C +189 more	Copy number loss	See cases	GPathogenic
Select item 60219	GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)x1	ACVR1, ACVR1C +333 more	Copy number loss	See cases	GPathogenic
Select item 154597	GRCh38/hg38 2q23.3-24.2(chr2:151932344-159419734)x1	ACVR1, ACVR1C +147 more	Copy number loss	See cases	GPathogenic
Select item 154896	GRCh38/hg38 2q23.3-24.1(chr2:153609714-158185125)x1	LOC129934943, LOC129934944 +74 more	Copy number loss	See cases	GPathogenic
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 59150	GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3	ACVR1, ACVR1C +275 more	Copy number gain	See cases	GPathogenic
Select item 236378	Single allele	ACVR1C, LOC129934963 +61 more	Deletion	Autism spectrum disorder	GLikely pathogenic
Select item 146369	GRCh38/hg38 2q24.1(chr2:154541586-155367858)x1	KCNJ3, LOC122847298 +4 more	Copy number loss	See cases	GUncertain significance
Select item 3113334	NM_002239.4(KCNJ3):c.184A>G (p.Ser62Gly)	KCNJ3 (S62G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113335	NM_002239.4(KCNJ3):c.250C>T (p.Leu84Phe)	KCNJ3 (L84F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113336	NM_002239.4(KCNJ3):c.322A>G (p.Thr108Ala)	KCNJ3 (T108A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113337	NM_002239.4(KCNJ3):c.835C>T (p.Pro279Ser)	KCNJ3 (P279S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113338	NM_002239.4(KCNJ3):c.838T>A (p.Phe280Ile)	KCNJ3 (F280I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366791	NM_002239.4(KCNJ3):c.950C>T (p.Thr317Ile)	KCNJ3 (T317I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3113333	NM_002239.4(KCNJ3):c.1461C>A (p.Asn487Lys)	KCNJ3 (N487K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 710586	NM_002239.4(KCNJ3):c.1494T>C (p.Asp498=)	KCNJ3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2400859	NM_002239.4(KCNJ3):c.1502C>A (p.Thr501Lys)	KCNJ3 (T501K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2684797	GRCh37/hg19 2q24.1(chr2:155646673-155726962)x1	KCNJ3	Copy number loss	not provided	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1340408	GRCh37/hg19 2q23.3-24.1(chr2:154852961-159126250)x1	ACVR1, ACVR1C +9 more	Copy number loss	not provided	GPathogenic
Select item 1340352	GRCh37/hg19 2q23.3-24.1(chr2:154328530-158759642)x1	ACVR1, ACVR1C +8 more	Copy number loss	not provided	GPathogenic
Select item 1339787	GRCh37/hg19 2q23.3-24.2(chr2:152967964-160089210)x3	ACVR1, ACVR1C +17 more	Copy number gain	not provided	Gnot provided
Select item 814331	GRCh37/hg19 2q24.1(chr2:155694444-155946659)x1	KCNJ3	Copy number loss	not provided	GUncertain significance
Select item 814330	GRCh37/hg19 2q24.1(chr2:155630033-155802696)x1	KCNJ3	Copy number loss	not provided	GUncertain significance
Select item 814314	GRCh37/hg19 2q22.3-24.1(chr2:147173792-158346266)x1	ARL6IP6, CACNB4 +25 more	Copy number loss	not provided	GPathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic

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Items: 30