5396[geneid] - ClinVar

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Items: 50

	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 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	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 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	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 60046	GRCh38/hg38 1q24.2-25.1(chr1:168314822-175299299)x1	ANKRD45, ATP1B1 +232 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 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 147403	GRCh38/hg38 1q24.2(chr1:170289625-170756155)x1	GORAB, GORAB-AS1 +4 more	Copy number loss	See cases	GUncertain significance
Select item 3051369	NM_022716.4(PRRX1):c.15C>T (p.Tyr5=)	PRRX1	Single nucleotide variant (synonymous variant)	PRRX1-related disorder	GLikely benign
Select item 3219783	NM_022716.4(PRRX1):c.31C>T (p.Arg11Trp)	PRRX1 (R11W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588949	NM_022716.4(PRRX1):c.49G>A (p.Gly17Ser)	PRRX1 (G17S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620173	NM_022716.4(PRRX1):c.142A>T (p.Met48Leu)	PRRX1 (M48L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 725559	NM_022716.4(PRRX1):c.185G>A (p.Arg62Gln)	PRRX1 (R62Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 728818	NM_022716.4(PRRX1):c.201G>T (p.Ser67=)	PRRX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 774800	NM_022716.4(PRRX1):c.210C>T (p.Leu70=)	PRRX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 50497	NM_022716.4(PRRX1):c.266_269dup (p.Arg92fs)	PRRX1 (R92fs)	Duplication (frameshift variant)	Agnathia-otocephaly complex	GPathogenic
Select item 50496	NM_022716.4(PRRX1):c.269del (p.Lys90fs)	PRRX1 (K90fs)	Deletion (frameshift variant)	Agnathia-otocephaly complex	GPathogenic
Select item 727923	NM_022716.4(PRRX1):c.310A>G (p.Ser104Gly)	PRRX1 (S104G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 982406	NM_022716.4(PRRX1):c.317T>C (p.Leu106Pro)	PRRX1 (L106P)	Single nucleotide variant (missense variant)	Agnathia-otocephaly complex	GLikely pathogenic
Select item 29825	NM_022716.4(PRRX1):c.338T>C (p.Phe113Ser)	PRRX1 (F113S)	Single nucleotide variant (missense variant)	Agnathia-otocephaly complex	GPathogenic
Select item 587496	NM_022716.4(PRRX1):c.343C>T (p.Arg115Trp)	PRRX1 (R115W)	Single nucleotide variant (missense variant)	Agnathia-otocephaly complex	GUncertain significance
Select item 720998	NM_022716.4(PRRX1):c.417+7C>G	PRRX1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 3219784	NM_022716.4(PRRX1):c.468G>A (p.Met156Ile)	PRRX1 (M156I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399874	NM_022716.4(PRRX1):c.472G>A (p.Ala158Thr)	PRRX1 (A158T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3057903	NM_022716.4(PRRX1):c.492C>G (p.Leu164=)	PRRX1	Single nucleotide variant (synonymous variant)	PRRX1-related disorder	GLikely benign
Select item 2629003	NM_022716.4(PRRX1):c.529C>G (p.Gln177Glu)	PRRX1 (Q177E)	Single nucleotide variant (missense variant)	PRRX1-related disorder	GUncertain significance
Select item 2208129	NM_022716.4(PRRX1):c.550G>A (p.Ala184Thr)	PRRX1 (A184T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2435265	NM_022716.4(PRRX1):c.551C>T (p.Ala184Val)	PRRX1 (A184V)	Single nucleotide variant (missense variant)	Agnathia-otocephaly complex	GUncertain significance
Select item 3054837	NM_022716.4(PRRX1):c.599+3906C>T	PRRX1	Single nucleotide variant (synonymous variant +1 more)	PRRX1-related disorder	GLikely benign
Select item 3040998	NM_022716.4(PRRX1):c.599+3931C>T	PRRX1	Single nucleotide variant (3 prime UTR variant +1 more)	PRRX1-related disorder	GLikely benign
Select item 3219785	NM_022716.4(PRRX1):c.600C>T (p.Ser200=)	PRRX1	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3034557	NM_022716.4(PRRX1):c.600C>A (p.Ser200Arg)	PRRX1 (S200R)	Single nucleotide variant (3 prime UTR variant +1 more)	PRRX1-related disorder	GLikely benign
Select item 29826	NM_022716.4(PRRX1):c.691G>C (p.Ala231Pro)	PRRX1 (A231P)	Single nucleotide variant (3 prime UTR variant +1 more)	Agnathia-otocephaly complex	GPathogenic
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 1527381	GRCh37/hg19 1q24.2-25.3(chr1:169873155-181823980)	METTL13, MIR199A2 +68 more	Copy number loss	not specified	GPathogenic
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 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	CA14, CACNA1E +956 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 979305	GRCh37/hg19 1q24.2(chr1:170503528-170666132)x1	GORAB, PRRX1	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 686127	GRCh37/hg19 1q24.2(chr1:170519336-170666165)x3	GORAB, PRRX1	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 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)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +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

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Items: 50