ClinVar for Gene (Select 481) - ClinVar

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Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 2685754	GRCh37/hg19 1q23.3-25.1(chr1:164571371-175708060)x1	ADCY10, ALDH9A1 +81 more	Copy number loss	not provided	GPathogenic
Select item 2486528	NM_001677.4(ATP1B1):c.611A>G (p.Tyr204Cys)	ATP1B1 (Y204C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481409	NM_001677.4(ATP1B1):c.217G>A (p.Ala73Thr)	ATP1B1 (A73T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330126	NM_001677.4(ATP1B1):c.583T>A (p.Ser195Thr)	ATP1B1 (S195T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1808267	GRCh37/hg19 1q24.2(chr1:168675820-169363333)x1	ATP1B1, BLZF1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 1722375	NM_001677.4(ATP1B1):c.568-20A>C	ATP1B1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1527359	GRCh37/hg19 1q24.2-24.3(chr1:167391422-171843613)	ADCY10, ATP1B1 +39 more	Copy number loss	not specified	GPathogenic
Select item 1527348	GRCh37/hg19 1q23.3-24.3(chr1:162330810-171532331)	ADCY10, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1331399	NM_001677.4(ATP1B1):c.382G>A (p.Asp128Asn)	ATP1B1 (D128N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1321442	NM_001677.4(ATP1B1):c.522G>A (p.Pro174=)	ATP1B1	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 1177264	NM_001677.4(ATP1B1):c.790A>G (p.Thr264Ala)	ATP1B1 (T264A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1174088	NM_001677.4(ATP1B1):c.814dup (p.Ile272fs)	ATP1B1 (I272fs)	Duplication (frameshift variant)	Global developmental delay	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 979302	GRCh37/hg19 1q23.3-24.2(chr1:164608682-169216098)x1	STYXL2, GPR161 +30 more	Copy number loss	not provided	GLikely pathogenic
Select item 933171	NM_001677.4(ATP1B1):c.-1C>A	ATP1B1	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 928642	NM_001677.4(ATP1B1):c.781G>A (p.Val261Ile)	ATP1B1 (V261I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 928641	NM_001677.4(ATP1B1):c.222G>A (p.Pro74=)	ATP1B1	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 917614	NM_001677.4(ATP1B1):c.97+10G>C	ATP1B1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 814137	GRCh37/hg19 1q24.2-25.1(chr1:167430471-174635618)x1	METTL13, METTL18 +60 more	Copy number loss	not provided	GPathogenic
Select item 797092	NM_001677.4(ATP1B1):c.45C>T (p.Phe15=)	ATP1B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 769250	NM_001677.4(ATP1B1):c.321G>A (p.Arg107=)	ATP1B1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 733126	NM_001677.4(ATP1B1):c.837C>T (p.Tyr279=)	ATP1B1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 686162	GRCh37/hg19 1q24.2(chr1:168456873-169183290)x4	ATP1B1, DPT +3 more	Copy number gain	not provided	GUncertain significance
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 558766	Single allele	ANKRD45, ATP1B1 +51 more	Deletion	1q24q25 microdeletion syndrome	GPathogenic
Select item 496144	NM_001677.4(ATP1B1):c.600A>C (p.Pro200=)	ATP1B1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 496143	NM_001677.4(ATP1B1):c.135C>T (p.Cys45=)	ATP1B1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	ABL2, ACBD6 +147 more	Copy number loss	See cases	GPathogenic
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +1585 more	Copy number gain	See cases	GPathogenic
Select item 155225	GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1	ADCY10, ALDH9A1 +407 more	Copy number loss	See cases	GPathogenic
Select item 149155	GRCh38/hg38 1q24.2(chr1:168498046-169184625)x4	ATP1B1, DPT +19 more	Copy number gain	See cases	GUncertain significance
Select item 60046	GRCh38/hg38 1q24.2-25.1(chr1:168314822-175299299)x1	ANKRD45, ATP1B1 +232 more	Copy number loss	See cases	GPathogenic
Select item 60045	GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1	ADCY10, ANKRD45 +332 more	Copy number loss	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 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 35698	NM_001677.4(ATP1B1):c.571C>T (p.Pro191Ser)	ATP1B1, NME7 (P191S)	Single nucleotide variant (missense variant)	Cardiac arrhythmia	GUncertain significance

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Links from Gene

Items: 43