ClinVar for Gene (Select 6402) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3317263	NM_000655.5(SELL):c.250C>T (p.Arg84Cys)	SELL (R84C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317262	NM_000655.5(SELL):c.494G>A (p.Cys165Tyr)	SELL (C165Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159674	NM_000655.5(SELL):c.960C>A (p.Asp320Glu)	SELL (D320E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159673	NM_000655.5(SELL):c.785T>C (p.Leu262Pro)	SELL (L262P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159672	NM_000655.5(SELL):c.731T>C (p.Phe244Ser)	SELL (F244S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159671	NM_000655.5(SELL):c.648C>G (p.Asn216Lys)	SELL (N216K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159670	NM_000655.5(SELL):c.551T>C (p.Val184Ala)	SELL (V184A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159669	NM_000655.5(SELL):c.973A>G (p.Met325Val)	SELL (M325V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2595923	NM_000655.5(SELL):c.508G>C (p.Glu170Gln)	SELL (E170Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342881	NM_000655.5(SELL):c.173G>A (p.Arg58Gln)	SELL (R58Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2322368	NM_000655.5(SELL):c.697T>A (p.Leu233Ile)	SELL (L233I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311084	NM_000655.5(SELL):c.886A>C (p.Ile296Leu)	SELL (I296L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271925	NM_000655.5(SELL):c.283G>A (p.Gly95Arg)	SELL (G95R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263614	NM_000655.5(SELL):c.565C>T (p.Pro189Ser)	SELL (P189S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245359	NM_000655.5(SELL):c.578T>A (p.Phe193Tyr)	SELL (F193Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204263	NM_000655.5(SELL):c.1070G>T (p.Arg357Ile)	SELL (R357I)	Single nucleotide variant (missense variant +1 more)	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 1457087	NC_000001.10:g.(?_169660781)_(170521603_?)del	FIRRM, GORAB +6 more	Deletion	not provided	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	NUCKS1, NUDT17 +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 814139	GRCh37/hg19 1q24.2(chr1:169148346-169806006)x1	C1orf112, NME7 +8 more	Copy number loss	not provided	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 790494	NM_000655.5(SELL):c.66G>T (p.Gly22=)	SELL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 789697	NM_000655.5(SELL):c.351T>C (p.Gly117=)	SELL	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 723964	NM_000655.5(SELL):c.601G>C (p.Glu201Gln)	SELL (E201Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 713751	NM_000655.5(SELL):c.107C>G (p.Thr36Ser)	SELL (T36S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 625613	GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623)	ABL2, ACBD6 +70 more	Copy number gain	not provided	GPathogenic
Select item 558766	Single allele	ANKRD45, ATP1B1 +51 more	Deletion	1q24q25 microdeletion syndrome	GPathogenic
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
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	SUCO, TADA1 +147 more	Copy number loss	See cases	GPathogenic
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 155225	GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1	LOC129388624, LOC129388625 +407 more	Copy number loss	See cases	GPathogenic
Select item 148038	GRCh38/hg38 1q24.2-25.2(chr1:169218236-178075834)x1	ANKRD45, ASTN1 +239 more	Copy number loss	See cases	GPathogenic
Select item 60047	GRCh38/hg38 1q24.2(chr1:169623984-169744043)x1	LOC129931896, LOC129931897 +4 more	Copy number loss	See cases	GPathogenic
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 43