1488[HGNC] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 57493	GRCh38/hg38 1p13.2(chr1:112147402-113470058)x3	TAFA3, WNT2B +61 more	Copy number gain	See cases	GUncertain significance
Select item 3263276	NM_006135.3(CAPZA1):c.11T>C (p.Phe4Ser)	CAPZA1, LOC126805832 (F4S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558579	NM_006135.3(CAPZA1):c.13G>A (p.Asp5Asn)	CAPZA1, LOC126805832 (D5N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1206064	NM_006135.3(CAPZA1):c.34G>A (p.Glu12Lys)	CAPZA1, LOC126805832 (E12K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 146756	GRCh38/hg38 1p13.2(chr1:112625023-113046966)x3	CAPZA1, LINC01356 +27 more	Copy number gain	See cases	GLikely benign
Select item 2476607	NM_006135.3(CAPZA1):c.43C>T (p.Arg15Cys)	CAPZA1 (R15C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205575	NM_006135.3(CAPZA1):c.46A>G (p.Ile16Val)	CAPZA1 (I16V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137263	NM_006135.3(CAPZA1):c.69T>G (p.His23Gln)	CAPZA1 (H23Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279159	NM_006135.3(CAPZA1):c.178G>A (p.Asp60Asn)	CAPZA1 (D60N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263065	NM_006135.3(CAPZA1):c.183G>C (p.Gln61His)	CAPZA1 (Q61H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411648	NM_006135.3(CAPZA1):c.188C>T (p.Thr63Met)	CAPZA1 (T63M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385160	NM_006135.3(CAPZA1):c.200T>C (p.Ile67Thr)	CAPZA1 (I67T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478521	NM_006135.3(CAPZA1):c.312A>C (p.Glu104Asp)	CAPZA1 (E104D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322531	NM_006135.3(CAPZA1):c.334G>A (p.Glu112Lys)	CAPZA1 (E112K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263277	NM_006135.3(CAPZA1):c.364G>A (p.Glu122Lys)	CAPZA1 (E122K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137260	NM_006135.3(CAPZA1):c.415G>A (p.Gly139Ser)	CAPZA1 (G139S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292843	NM_006135.3(CAPZA1):c.515G>A (p.Arg172His)	CAPZA1 (R172H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624256	NM_006135.3(CAPZA1):c.571G>A (p.Val191Met)	CAPZA1 (V191M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137261	NM_006135.3(CAPZA1):c.633T>A (p.Asp211Glu)	CAPZA1 (D211E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553079	NM_006135.3(CAPZA1):c.638A>G (p.Gln213Arg)	CAPZA1 (Q213R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375295	NM_006135.3(CAPZA1):c.655T>A (p.Ser219Thr)	CAPZA1 (S219T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638996	NM_006135.3(CAPZA1):c.657+7A>G	CAPZA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3137262	NM_006135.3(CAPZA1):c.677A>G (p.Lys226Arg)	CAPZA1 (K226R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225002	NM_006135.3(CAPZA1):c.688A>G (p.Lys230Glu)	CAPZA1 (K230E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283670	NM_006135.3(CAPZA1):c.757A>G (p.Thr253Ala)	CAPZA1 (T253A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 549573	NC_000001.11:g.112796384_112887499dup	CAPZA1, LINC01356 +12 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 3063355	GRCh37/hg19 1p13.2(chr1:113095600-113554789)x3	CAPZA1, MOV10 +5 more	Copy number gain	not specified	GUncertain significance
Select item 2685817	GRCh37/hg19 1p13.2(chr1:113201375-113571076)x3	CAPZA1, MOV10 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2685816	GRCh37/hg19 1p13.2(chr1:113192038-113703255)x3	CAPZA1, LRIG2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 2685577	GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1	ADORA3, AHCYL1 +77 more	Copy number loss	not provided	GPathogenic
Select item 2425617	NC_000001.10:g.(?_112318699)_(115576848_?)del	AMPD1, AP4B1 +28 more	Deletion	Hereditary spastic paraplegia 47	GPathogenic
Select item 2424614	NC_000001.10:g.(?_111145905)_(114454813_?)del	ADORA3, AP4B1 +34 more	Deletion	not provided	GPathogenic
Select item 1527270	GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783)	NHLH2, NOTCH2 +78 more	Copy number gain	not specified	GPathogenic
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	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 253907	GRCh37/hg19 1p13.2(chr1:113213652-113947403)x3	CAPZA1, MAGI3 +6 more	Copy number gain	See cases	GUncertain significance
Select item 221415	GRCh37/hg19 1p13.2(chr1:113134186-113265713)x3	CAPZA1, MOV10 +4 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 42