ClinVar for Gene (Select 6464) - ClinVar

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Links from Gene

Items: 34

	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 2685829	GRCh37/hg19 1q21.3-22(chr1:154684075-155017913)x3	CKS1B, DCST1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 2606192	NM_001130040.2(SHC1):c.1517A>G (p.Asn506Ser)	SHC1 (N395S +4 more)	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 2519526	NM_001130040.2(SHC1):c.721C>T (p.Leu241Phe)	SHC1 (L131F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495334	NM_001130040.2(SHC1):c.1401T>A (p.Asp467Glu)	SHC1 (D467E +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406036	NM_001130040.2(SHC1):c.941A>G (p.Gln314Arg)	SHC1 (Q204R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380017	NM_001130040.2(SHC1):c.139C>T (p.Pro47Ser)	SHC1 (P47S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2361682	NM_001130040.2(SHC1):c.190C>T (p.Arg64Trp)	SHC1 (R64W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2322686	NM_001130040.2(SHC1):c.206G>A (p.Arg69Lys)	SHC1 (R69K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2320976	NM_001130040.2(SHC1):c.1118C>T (p.Ala373Val)	SHC1 (A218V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258052	NM_001130040.2(SHC1):c.568G>A (p.Glu190Lys)	SHC1 (E190K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257487	NM_001130040.2(SHC1):c.32A>G (p.Asn11Ser)	SHC1 (N11S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2246222	NM_001130040.2(SHC1):c.421G>C (p.Val141Leu)	SHC1 (V31L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2242840	NM_001130040.2(SHC1):c.599C>T (p.Pro200Leu)	SHC1 (P45L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214916	NM_001130040.2(SHC1):c.1355A>G (p.Asn452Ser)	SHC1 (N296S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211689	NM_001130040.2(SHC1):c.644C>T (p.Pro215Leu)	SHC1 (P215L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1706625	NM_001826.3(CKS1B):c.51del (p.Phe17fs)	CKS1B, LOC129931529 +1 more (F17fs)	Deletion (frameshift variant +1 more)	Breast neoplasm	GPathogenic
Select item 1706624	NM_001826.3(CKS1B):c.33del (p.Lys11fs)	CKS1B, SHC1 (K11fs)	Deletion (frameshift variant +1 more)	Breast neoplasm	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 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 814131	GRCh37/hg19 1q21.3-22(chr1:154898854-155242457)x3	EFNA4, ENTREP3 +23 more	Copy number gain	not provided	GUncertain significance
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 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 60040	GRCh38/hg38 1q21.3-22(chr1:154575689-155292901)x1	LOC129931527, LOC129931528 +91 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 34