SSR2[gene] - ClinVar

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Items: 34

	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 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
Select item 660674	NC_000001.10:g.(?_155870169)_(156108907_?)dup	ARHGEF2-AS2, KHDC4 +44 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 152838	GRCh38/hg38 1q22(chr1:155960118-156013943)x3	ARHGEF2, ARHGEF2-AS2 +13 more	Copy number gain	See cases	GUncertain significance
Select item 2454620	NM_003145.4(SSR2):c.355C>A (p.Pro119Thr)	SSR2 (P119T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312884	NM_003145.4(SSR2):c.320C>T (p.Ser107Leu)	SSR2 (S107L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224041	NM_003145.4(SSR2):c.230A>G (p.Asn77Ser)	SSR2 (N77S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170486	NM_003145.4(SSR2):c.178T>C (p.Ser60Pro)	SSR2 (S60P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278433	NM_003145.4(SSR2):c.145G>A (p.Val49Ile)	SSR2 (V49I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300000	NM_003145.4(SSR2):c.46C>G (p.Gln16Glu)	SSR2 (Q16E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242278	GRCh37/hg19 1q22-23.2(chr1:155709113-159191078)x3	ACKR1, AIM2 +80 more	Copy number gain	not provided	GLikely pathogenic
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 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 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	ARHGEF2, BCAN +45 more	Deletion	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 1450274	NC_000001.10:g.(?_154141761)_(156851434_?)dup	ADAM15, ADAR +90 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	CRTC2, KHDC4 +228 more	Duplication	MHC class II 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 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +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 686756	GRCh37/hg19 1q22(chr1:155922215-156015659)x4	ARHGEF2, SSR2 +1 more	Copy number gain	not provided	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	ARHGEF2, KHDC4 +8 more	Deletion	Noonan syndrome 8	GUncertain significance
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

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Items: 34