2547[HGNC] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066385, LOC130066386 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 146317	GRCh38/hg38 20q13.2-13.33(chr20:55630597-60941207)x3	LOC121627913, LOC121853014 +175 more	Copy number gain	See cases	GLikely pathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	LOC130066289, LOC130066290 +491 more	Copy number gain	See cases	GPathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066383, LOC130066384 +464 more	Copy number gain	See cases	GPathogenic
Select item 3078811	NM_001336.4(CTSZ):c.826G>A (p.Val276Met)	CTSZ (V276M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261976	NM_001336.4(CTSZ):c.805G>A (p.Glu269Lys)	CTSZ (E269K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257568	NM_001336.4(CTSZ):c.791G>A (p.Gly264Asp)	CTSZ (G264D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078810	NM_001336.4(CTSZ):c.706A>G (p.Thr236Ala)	CTSZ (T236A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619502	NM_001336.4(CTSZ):c.702G>C (p.Gln234His)	CTSZ (Q234H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 785663	NM_001336.4(CTSZ):c.677C>G (p.Thr226Ser)	CTSZ (T226S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 779289	NM_001336.4(CTSZ):c.587T>C (p.Leu196Pro)	CTSZ (L196P)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 746439	NM_001336.4(CTSZ):c.571G>A (p.Gly191Arg)	CTSZ (G191R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2652451	NM_001336.4(CTSZ):c.567G>A (p.Arg189=)	CTSZ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3078809	NM_001336.4(CTSZ):c.488A>T (p.Glu163Val)	CTSZ (E163V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270249	NM_001336.4(CTSZ):c.470A>G (p.Tyr157Cys)	CTSZ (Y157C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270246	NM_001336.4(CTSZ):c.430G>A (p.Ala144Thr)	CTSZ (A144T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270248	NM_001336.4(CTSZ):c.361C>A (p.Gln121Lys)	CTSZ (Q121K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339471	NM_001336.4(CTSZ):c.179C>A (p.Ala60Glu)	CTSZ (A60E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271681	NM_001336.4(CTSZ):c.179C>T (p.Ala60Val)	CTSZ (A60V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270250	NM_001336.4(CTSZ):c.154C>T (p.Arg52Trp)	CTSZ (R52W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204193	NM_001336.4(CTSZ):c.121G>A (p.Gly41Arg)	CTSZ (G41R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078812	NM_001336.4(CTSZ):c.83G>T (p.Arg28Leu)	CTSZ (R28L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276345	NM_001336.4(CTSZ):c.70G>A (p.Gly24Ser)	CTSZ (G24S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329856	NM_001336.4(CTSZ):c.65A>G (p.Gln22Arg)	CTSZ (Q22R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2372285	NM_001336.4(CTSZ):c.53C>T (p.Ala18Val)	CTSZ (A18V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223851	NM_001336.4(CTSZ):c.52G>T (p.Ala18Ser)	CTSZ (A18S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248275	NC_000020.10:g.(?_56993257)_(57967907_?)dup	APCDD1L, ATP5F1E +14 more	Duplication	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
Select item 2580344	GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	ABHD16B, ADRM1 +113 more	Copy number gain	See cases	GUncertain significance
Select item 1526694	GRCh37/hg19 20q13.32-13.33(chr20:56835739-62915555)	LAMA5, LIME1 +88 more	Copy number gain	not specified	GPathogenic
Select item 1526693	GRCh37/hg19 20q13.31-13.32(chr20:55292205-57866365)	ANKRD60, APCDD1L +25 more	Copy number loss	not specified	GPathogenic
Select item 1374167	NC_000020.10:g.(?_54823900)_(57899514_?)del	ANKRD60, APCDD1L +36 more	Deletion	not provided	GUncertain significance
Select item 1180535	GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3	GATA5, ZBTB46 +116 more	Copy number gain	not provided	GPathogenic
Select item 816132	GRCh37/hg19 20q13.32-13.33(chr20:56788101-62762405)x3	BHLHE23, ZGPAT +87 more	Copy number gain	not provided	GPathogenic
Select item 816131	GRCh37/hg19 20q13.31-13.33(chr20:55743522-62032989)x3	CDH4, CHRNA4 +68 more	Copy number gain	not provided	GPathogenic
Select item 625661	GRCh37/hg19 20q13.2-13.33(chr20:54143747-62194881)	ADRM1, ANKRD60 +86 more	Copy number gain	not provided	GPathogenic
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 441724	GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3	ABHD16B, ADRM1 +116 more	Copy number gain	See cases	GLikely pathogenic

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Items: 41