15874[HGNC] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150785	GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3	LOC130065401, LOC130065402 +348 more	Copy number gain	See cases	GPathogenic
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	LOC130065344, LOC130065345 +455 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 154176	GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3	LOC112694699, LOC112694712 +306 more	Copy number gain	See cases	GUncertain significance
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 more	Copy number gain	See cases	GPathogenic
Select item 152841	GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3	LOC114004355, LOC116286198 +347 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	ADAM33, ADISSP +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	LOC130065324, LOC130065325 +581 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 154850	GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3	LOC130065322, LOC130065323 +300 more	Copy number gain	See cases	GPathogenic
Select item 59194	GRCh38/hg38 20p13(chr20:3059231-4187716)x3	ADAM33, ADISSP +76 more	Copy number gain	See cases	GPathogenic
Select item 154523	GRCh38/hg38 20p13(chr20:3177313-3849958)x1	ADAM33, ADISSP +45 more	Copy number loss	See cases	GUncertain significance
Select item 146301	GRCh38/hg38 20p13(chr20:3510905-3891967)x3	ADAM33, ADISSP +33 more	Copy number gain	See cases	GUncertain significance
Select item 3168829	NM_015417.5(SPEF1):c.628C>A (p.Leu210Met)	LOC130065337, SPEF1 (L210M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168828	NM_015417.5(SPEF1):c.617A>T (p.Lys206Met)	LOC130065337, SPEF1 (K206M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294911	NM_015417.5(SPEF1):c.611A>T (p.Gln204Leu)	LOC130065337, SPEF1 (Q204L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235199	NM_015417.5(SPEF1):c.448G>A (p.Val150Ile)	SPEF1 (V150I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322101	NM_015417.5(SPEF1):c.397G>A (p.Gly133Ser)	SPEF1 (G133S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168827	NM_015417.5(SPEF1):c.381G>C (p.Glu127Asp)	SPEF1 (E127D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555633	NM_015417.5(SPEF1):c.342G>T (p.Arg114Ser)	SPEF1 (R114S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337831	NM_015417.5(SPEF1):c.335A>T (p.Glu112Val)	SPEF1 (E112V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607564	NM_015417.5(SPEF1):c.298G>A (p.Val100Met)	SPEF1 (V100M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322100	NM_015417.5(SPEF1):c.295G>T (p.Val99Leu)	SPEF1 (V99L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393700	NM_015417.5(SPEF1):c.295G>A (p.Val99Met)	SPEF1 (V99M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168826	NM_015417.5(SPEF1):c.281A>G (p.Gln94Arg)	SPEF1 (Q94R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338174	NM_015417.5(SPEF1):c.277G>A (p.Ala93Thr)	SPEF1 (A93T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322099	NM_015417.5(SPEF1):c.209G>A (p.Gly70Asp)	SPEF1 (G70D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168831	NM_015417.5(SPEF1):c.91C>T (p.Arg31Trp)	SPEF1 (R31W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322102	NM_015417.5(SPEF1):c.54C>A (p.Asp18Glu)	SPEF1 (D18E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260775	NM_015417.5(SPEF1):c.16G>A (p.Asp6Asn)	SPEF1 (D6N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168830	NM_015417.5(SPEF1):c.8G>C (p.Ser3Thr)	SPEF1 (S3T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248364	NC_000020.10:g.(?_2361615)_(3903941_?)dup	ADAM33, ADISSP +36 more	Duplication	not provided	GUncertain significance
Select item 3248273	NC_000020.10:g.(?_3190198)_(6760201_?)del	DNAAF9, FERMT1 +35 more	Deletion	Inosine triphosphatase deficiency	GPathogenic
Select item 3062409	GRCh37/hg19 20p13(chr20:2640674-4323312)x3	OXT, PANK2 +33 more	Copy number gain	not specified	GUncertain significance
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	THBD, TMC2 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	TMEM74B, TMX4 +114 more	Copy number gain	not provided	GPathogenic
Select item 2684899	GRCh37/hg19 20p13-12.2(chr20:61569-9542361)x3	ADAM33, ADISSP +100 more	Copy number gain	not provided	GPathogenic
Select item 2446383	GRCh37/hg19 20p13-12.3(chr20:3034557-5524417)x1	MAVS, OXT +36 more	Copy number loss	See cases	GLikely pathogenic
Select item 2426797	NC_000020.10:g.(?_3063276)_(3903941_?)del	ADAM33, ADISSP +19 more	Deletion	not provided	GPathogenic
Select item 2422855	NC_000020.10:g.(?_1959939)_(6760201_?)dup	CDS2, CENPB +60 more	Duplication	Pigmentary pallidal degeneration +1 more	GUncertain significance
Select item 1706505	GRCh37/hg19 20p13(chr20:2802218-4010802)x3	SPEF1, UBOX5 +26 more	Copy number gain	See cases	GUncertain significance
Select item 1703638	GRCh37/hg19 20p13-12.2(chr20:3178539-11848383)	ADAM33, ADRA1D +47 more	Copy number loss	20p12.3 microdeletion syndrome	GPathogenic
Select item 1054510	NC_000020.10:g.(?_3190178)_(3903961_?)dup	ADAM33, ADISSP +14 more	Duplication	Inosine triphosphatase deficiency	GUncertain significance
Select item 979728	GRCh37/hg19 20p13(chr20:3116478-4199486)x3	FASTKD5, CDC25B +20 more	Copy number gain	not provided	GUncertain significance
Select item 979727	GRCh37/hg19 20p13(chr20:3092739-4939933)x3	CDC25B, ADAM33 +25 more	Copy number gain	not provided	GUncertain significance
Select item 979576	GRCh37/hg19 20p13(chr20:2802218-4010802)x3	OXT, LZTS3 +26 more	Copy number gain	not provided	GUncertain significance
Select item 816106	GRCh37/hg19 20p13(chr20:2806498-4007381)x1	CDC25B, AVP +26 more	Copy number loss	not provided	GUncertain significance
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 686194	GRCh37/hg19 20p13(chr20:3654723-3796884)x3	ADAM33, C20orf27 +5 more	Copy number gain	not provided	GUncertain significance
Select item 564645	GRCh37/hg19 20p13-12.1(chr20:3092739-17091453)x1	FERMT1, SPTLC3 +62 more	Copy number loss	not provided	GPathogenic
Select item 443885	GRCh37/hg19 20p13-12.3(chr20:2463101-8185680)x1	ADAM33, ADISSP +58 more	Copy number loss	See cases	GPathogenic
Select item 443774	GRCh37/hg19 20p13-12.2(chr20:61568-10486106)x3	ADAM33, ADISSP +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443254	GRCh37/hg19 20p13(chr20:2802218-4019837)x1	ADAM33, ADISSP +26 more	Copy number loss	See cases	GUncertain significance
Select item 443248	GRCh37/hg19 20p13-12.3(chr20:213423-5483406)x3	ADAM33, ADISSP +80 more	Copy number gain	See cases	GUncertain significance
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	ESF1, FAM110A +178 more	Copy number gain	not provided	GPathogenic
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253566	GRCh37/hg19 20p13-12.3(chr20:121521-5564937)x3	ADAM33, ADISSP +85 more	Copy number gain	See cases	GPathogenic

ClinVar

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Items: 62