LOC130065321[gene] - ClinVar

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Items: 25

	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 145587	GRCh38/hg38 20p13(chr20:3177313-3734506)x1	ADAM33, ATRN +24 more	Copy number loss	See cases	GUncertain significance
Select item 2801083	NM_023935.3(DDRGK1):c.91+19C>G	DDRGK1, ITPA +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1628612	NM_023935.3(DDRGK1):c.91+9T>A	DDRGK1, ITPA +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3080841	NM_023935.3(DDRGK1):c.89C>T (p.Ser30Leu)	DDRGK1, ITPA +1 more (S30L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1953932	NM_023935.3(DDRGK1):c.86C>T (p.Ala29Val)	DDRGK1, ITPA +1 more (A29V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1347351	NM_023935.3(DDRGK1):c.80G>A (p.Arg27Gln)	DDRGK1, ITPA +1 more (R27Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1670724	NM_023935.3(DDRGK1):c.78C>T (p.Gly26=)	ITPA, LOC130065321 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2005574	NM_023935.3(DDRGK1):c.73C>T (p.Arg25Trp)	DDRGK1, ITPA +1 more (R25W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2166514	NM_023935.3(DDRGK1):c.65C>T (p.Thr22Ile)	DDRGK1, ITPA +1 more (T22I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1986327	NM_023935.3(DDRGK1):c.54C>T (p.Ile18=)	DDRGK1, ITPA +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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Items: 25