ClinVar for Gene (Select 10089) - ClinVar

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Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3287702	NM_033347.2(KCNK7):c.169T>C (p.Cys57Arg)	KCNK7 (C57R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287701	NM_033347.2(KCNK7):c.548T>C (p.Val183Ala)	KCNK7 (V183A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113431	NM_033347.2(KCNK7):c.853G>A (p.Gly285Arg)	KCNK7 (G285R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3113430	NM_033347.2(KCNK7):c.829G>T (p.Ala277Ser)	KCNK7 (A277S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3113429	NM_033347.2(KCNK7):c.661G>A (p.Gly221Ser)	KCNK7 (G221S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3113428	NM_033347.2(KCNK7):c.602G>A (p.Gly201Glu)	KCNK7 (G201E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3113427	NM_033347.2(KCNK7):c.500C>T (p.Ala167Val)	KCNK7 (A167V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113426	NM_033347.2(KCNK7):c.442C>T (p.Leu148Phe)	KCNK7 (L148F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113425	NM_033347.2(KCNK7):c.413C>T (p.Ala138Val)	KCNK7 (A138V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113424	NM_033347.2(KCNK7):c.370G>T (p.Val124Phe)	KCNK7 (V124F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113423	NM_033347.2(KCNK7):c.352G>A (p.Gly118Arg)	KCNK7 (G118R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113422	NM_033347.2(KCNK7):c.295G>A (p.Ala99Thr)	KCNK7 (A99T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3113421	NM_033347.2(KCNK7):c.16C>A (p.Pro6Thr)	KCNK7 (P6T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2608423	NM_033347.2(KCNK7):c.664C>T (p.Arg222Cys)	KCNK7 (R222C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595944	NM_033347.2(KCNK7):c.143C>A (p.Ala48Glu)	KCNK7 (A48E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535740	NM_033347.2(KCNK7):c.359C>T (p.Ala120Val)	KCNK7 (A120V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426697	NC_000011.9:g.(?_65325080)_(65639825_?)del	AP5B1, CFL1 +15 more	Deletion	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 2365711	NM_033347.2(KCNK7):c.794T>A (p.Met265Lys)	KCNK7 (M265K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2296999	NM_033347.2(KCNK7):c.349G>A (p.Gly117Ser)	KCNK7 (G117S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266687	NM_033347.2(KCNK7):c.764C>T (p.Thr255Ile)	KCNK7 (T255I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2218147	NM_033347.2(KCNK7):c.455G>A (p.Arg152His)	KCNK7 (R152H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216812	NM_033347.2(KCNK7):c.709G>T (p.Ala237Ser)	KCNK7 (A237S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527644	GRCh37/hg19 11q13.1-13.2(chr11:64935724-66405514)	ACTN3, AP5B1 +63 more	Copy number loss	not specified	GUncertain significance
Select item 1449359	NC_000011.9:g.(?_64522783)_(66283694_?)del	AP5B1, ARL2 +81 more	Deletion	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 768455	NM_033347.2(KCNK7):c.327C>T (p.Gly109=)	KCNK7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 768454	NM_033347.2(KCNK7):c.356A>G (p.Lys119Arg)	KCNK7 (K119R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 634998	dup(11)(q13.1q13.1)	ATG2A, BAD +74 more	Duplication	Ependymoma	GLikely pathogenic
Select item 625593	GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402)	ACTN3, ACY3 +94 more	Copy number gain	not provided	GPathogenic
Select item 443398	GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3	ACTN3, ANKRD13D +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 152827	GRCh38/hg38 11q13.1(chr11:65327786-65626431)x3	LOC130006016, LOC130006017 +80 more	Copy number gain	See cases	GUncertain significance
Select item 152640	GRCh38/hg38 11q13.1(chr11:65520831-65695349)x3	EHBP1L1, FAM89B +45 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 38