ClinVar for Gene (Select 22889) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3063199	GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1	ADAM15, ADAR +85 more	Copy number loss	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 3062600	GRCh37/hg19 1q22(chr1:155902621-156207096)x3	ARHGEF2, KHDC4 +11 more	Copy number gain	not specified	GUncertain significance
Select item 2685831	GRCh37/hg19 1q22(chr1:155864518-156213257)x3	ARHGEF2, BGLAP +14 more	Copy number gain	not provided	GUncertain significance
Select item 2615095	NM_014949.4(KHDC4):c.1024C>A (p.Pro342Thr)	KHDC4 (P342T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610083	NM_014949.4(KHDC4):c.1103C>A (p.Pro368His)	KHDC4 (P368H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2559312	NM_014949.4(KHDC4):c.1195C>T (p.Pro399Ser)	KHDC4 (P399S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531108	NM_014949.4(KHDC4):c.1808G>A (p.Arg603Gln)	KHDC4 (R603Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525185	NM_014949.4(KHDC4):c.37G>C (p.Gly13Arg)	KHDC4, LOC126805876 (G13R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464634	NM_014949.4(KHDC4):c.1126C>A (p.Pro376Thr)	KHDC4 (P376T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456458	NM_014949.4(KHDC4):c.551A>G (p.Asn184Ser)	KHDC4 (N184S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1808454	GRCh37/hg19 1q22(chr1:155489474-156196407)x3	ARHGEF2, ASH1L +18 more	Copy number gain	not provided	GUncertain significance
Select item 1527304	GRCh37/hg19 1q22(chr1:155902781-156210031)	PMF1-BGLAP, SLC25A44 +11 more	Copy number gain	not specified	GUncertain significance
Select item 1527293	GRCh37/hg19 1q22(chr1:155616264-156059947)	ARHGEF2, DAP3 +12 more	Copy number loss	not specified	GUncertain significance
Select item 1460461	NC_000001.10:g.(?_155581953)_(156851434_?)del	CRABP2, DAP3 +45 more	Deletion	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 1450274	NC_000001.10:g.(?_154141761)_(156851434_?)dup	MUC1, PMVK +90 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	CKS1B, CLK2 +228 more	Duplication	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency +3 more	GUncertain significance
Select item 1444536	NC_000001.10:g.(?_155870179)_(156146788_?)dup	ARHGEF2, KHDC4 +9 more	Duplication	not provided	GUncertain significance
Select item 1227203	NM_014949.4(KHDC4):c.-13A>G	KHDC4, LOC126805876	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 688120	GRCh37/hg19 1q22-23.1(chr1:155770505-156652136)x3	ARHGEF2, BCAN +33 more	Copy number gain	not provided	GUncertain significance
Select item 660674	NC_000001.10:g.(?_155870169)_(156108907_?)dup	ARHGEF2-AS2, ARHGEF2 +44 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 565183	GRCh37/hg19 1q22-23.1(chr1:155636337-158024499)x1	ARHGEF11, ARHGEF2 +57 more	Copy number loss	not provided	GPathogenic
Select item 495229	Single allele	BGLAP, C1orf43 +90 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 493594	GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3	ADAR, PYGO2 +91 more	Copy number gain	not provided	GLikely pathogenic
Select item 477767	NC_000001.10:g.(?_155880221)_(156109650_?)del	RAB25, RIT1 +8 more	Deletion	Noonan syndrome 8	GUncertain significance
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 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +1585 more	Copy number gain	See cases	GPathogenic
Select item 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 149955	GRCh38/hg38 1q22(chr1:155834419-156434205)x3	ARHGEF2, ARHGEF2-AS2 +90 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 33