KCNJ9[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic
Select item 147654	GRCh38/hg38 1q23.2(chr1:160059626-160217512)x3	ATP1A2, ATP1A4 +18 more	Copy number gain	See cases	GBenign
Select item 147554	GRCh38/hg38 1q23.2(chr1:160059626-160136196)x1	ATP1A2, IGSF8 +8 more	Copy number loss	See cases	GBenign
Select item 147553	GRCh38/hg38 1q23.2(chr1:160059626-160136196)x3	ATP1A2, IGSF8 +8 more	Copy number gain	See cases	GBenign
Select item 3113346	NM_004983.3(KCNJ9):c.29C>T (p.Pro10Leu)	KCNJ9 (P10L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287660	NM_004983.3(KCNJ9):c.44C>A (p.Pro15Gln)	KCNJ9 (P15Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113348	NM_004983.3(KCNJ9):c.58G>A (p.Gly20Ser)	KCNJ9 (G20S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262712	NM_004983.3(KCNJ9):c.59G>C (p.Gly20Ala)	KCNJ9 (G20A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209153	NM_004983.3(KCNJ9):c.65A>C (p.Gln22Pro)	KCNJ9 (Q22P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260104	NM_004983.3(KCNJ9):c.70T>G (p.Tyr24Asp)	KCNJ9 (Y24D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113350	NM_004983.3(KCNJ9):c.88C>T (p.Arg30Trp)	KCNJ9 (R30W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492058	NM_004983.3(KCNJ9):c.142C>G (p.Leu48Val)	KCNJ9 (L48V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534200	NM_004983.3(KCNJ9):c.186G>C (p.Leu62Phe)	KCNJ9 (L62F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113345	NM_004983.3(KCNJ9):c.286G>T (p.Ala96Ser)	KCNJ9 (A96S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534201	NM_004983.3(KCNJ9):c.526C>A (p.His176Asn)	KCNJ9 (H176N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113347	NM_004983.3(KCNJ9):c.550G>A (p.Gly184Arg)	KCNJ9 (G184R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113349	NM_004983.3(KCNJ9):c.724G>A (p.Val242Ile)	KCNJ9 (V242I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
Select item 1809079	GRCh37/hg19 1q23.2-23.3(chr1:159778364-160770515)x3	ATP1A2, ATP1A4 +27 more	Copy number gain	not provided	GUncertain significance
Select item 1411942	NC_000001.10:g.(?_158581054)_(162750036_?)dup	LY9, MNDA +90 more	Duplication	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 685941	GRCh37/hg19 1q23.2-23.3(chr1:159808188-161011163)x3	ATP1A2, ATP1A4 +31 more	Copy number gain	not provided	GUncertain significance
Select item 470189	NC_000001.10:g.(?_160011163)_(160111132_?)dup	ATP1A2, IGSF8 +2 more	Duplication	Familial hemiplegic migraine +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 28