15885[HGNC] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC111365169, LOC111365189 +833 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	MIR6869, MIR6870 +828 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	LOC126862999, LOC126863005 +814 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065566, LOC130065567 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +950 more	Copy number gain	See cases	GPathogenic
Select item 59196	GRCh38/hg38 20p11.22-q11.1(chr20:22061586-30285812)x3	ABHD12, ACSS1 +174 more	Copy number gain	See cases	GPathogenic
Select item 2652246	NM_024893.2(SYNDIG1):c.-524C>T	SYNDIG1	Single nucleotide variant	not provided	GLikely benign
Select item 2353204	NM_024893.3(SYNDIG1):c.6T>G (p.Asp2Glu)	SYNDIG1 (D2E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480269	NM_024893.3(SYNDIG1):c.92T>C (p.Leu31Ser)	SYNDIG1 (L31S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249419	NM_024893.3(SYNDIG1):c.206C>T (p.Pro69Leu)	SYNDIG1 (P69L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172672	NM_024893.3(SYNDIG1):c.210G>A (p.Met70Ile)	SYNDIG1 (M70I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204116	NM_024893.3(SYNDIG1):c.226C>G (p.Pro76Ala)	SYNDIG1 (P76A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470793	NM_024893.3(SYNDIG1):c.281A>G (p.Tyr94Cys)	SYNDIG1 (Y94C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172673	NM_024893.3(SYNDIG1):c.316G>A (p.Val106Met)	SYNDIG1 (V106M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495132	NM_024893.3(SYNDIG1):c.524T>C (p.Met175Thr)	SYNDIG1 (M175T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605625	NM_024893.3(SYNDIG1):c.536G>A (p.Arg179Gln)	SYNDIG1 (R179Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299071	NM_024893.3(SYNDIG1):c.582G>C (p.Trp194Cys)	SYNDIG1 (W194C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251907	NM_024893.3(SYNDIG1):c.595G>A (p.Ala199Thr)	SYNDIG1 (A199T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334504	NM_024893.3(SYNDIG1):c.637A>C (p.Lys213Gln)	SYNDIG1 (K213Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172674	NM_024893.3(SYNDIG1):c.707T>C (p.Ile236Thr)	SYNDIG1 (I236T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280322	NM_024893.3(SYNDIG1):c.764A>G (p.Asn255Ser)	SYNDIG1 (N255S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809075	GRCh37/hg19 20p11.21(chr20:23142478-24824349)x3	CST1, CST11 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1526688	GRCh37/hg19 20p11.21-q11.21(chr20:24162775-31820857)	ABHD12, ACSS1 +50 more	Copy number gain	not specified	GLikely pathogenic
Select item 1341087	GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3	ABHD12, ACSS1 +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 979562	GRCh37/hg19 20p11.23-q11.21(chr20:19750804-30479077)x3	CST9, ACSS1 +57 more	Copy number gain	not provided	GLikely pathogenic
Select item 816122	GRCh37/hg19 20p11.21(chr20:24365369-24488368)x1	SYNDIG1	Copy number loss	not provided	GLikely benign
Select item 816121	GRCh37/hg19 20p11.21(chr20:24079491-24681352)x3	SYNDIG1	Copy number gain	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 686745	GRCh37/hg19 20p11.21(chr20:24232978-25520939)x3	ABHD12, ACSS1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 564632	GRCh37/hg19 20p11.21(chr20:23884744-24530547)x1	SYNDIG1, GGTLC1	Copy number loss	not provided	GLikely benign
Select item 560101	Single allele	CST11, CST2 +89 more	Duplication	not provided	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	KIF3B, KIZ +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 442830	GRCh37/hg19 20p11.23-11.1(chr20:18500917-25847320)x1	ABHD12, ACSS1 +44 more	Copy number loss	See cases	GPathogenic
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	CST1, NAPB +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 253408	GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3	CD93, PDRG1 +89 more	Copy number gain	See cases	GPathogenic

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Items: 37