ClinVar for Gene (Select 92086) - ClinVar

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Links from Gene

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3099681	NM_178311.3(GGTLC1):c.584C>A (p.Thr195Asn)	GGTLC1 (T195N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099680	NM_178311.3(GGTLC1):c.392C>T (p.Thr131Met)	GGTLC1 (T131M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099679	NM_178311.3(GGTLC1):c.320C>T (p.Ser107Leu)	GGTLC1 (S107L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099678	NM_178311.3(GGTLC1):c.286G>C (p.Ala96Pro)	GGTLC1 (A96P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099677	NM_178311.3(GGTLC1):c.154G>T (p.Ala52Ser)	GGTLC1 (A52S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068498	NC_000020.10:g.16400000_24400000del	BANF2, BFSP1 +49 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3068495	NC_000020.10:g.20158646_24080787del	CD93, CFAP61 +24 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 2620775	NM_178311.3(GGTLC1):c.248C>A (p.Thr83Asn)	GGTLC1 (T83N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546004	NM_178311.3(GGTLC1):c.319T>C (p.Ser107Pro)	GGTLC1 (S107P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531303	NM_178311.3(GGTLC1):c.661G>A (p.Glu221Lys)	GGTLC1 (E221K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469948	NM_178311.3(GGTLC1):c.275C>T (p.Pro92Leu)	GGTLC1 (P92L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457352	NM_178311.3(GGTLC1):c.475C>T (p.Arg159Trp)	GGTLC1 (R159W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376932	NM_178311.3(GGTLC1):c.335C>T (p.Thr112Met)	GGTLC1 (T112M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355412	NM_178311.3(GGTLC1):c.103G>A (p.Gly35Arg)	GGTLC1 (G35R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305597	NM_178311.3(GGTLC1):c.154G>A (p.Ala52Thr)	GGTLC1 (A52T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279743	NM_178311.3(GGTLC1):c.94C>T (p.Pro32Ser)	GGTLC1 (P32S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212804	NM_178311.3(GGTLC1):c.451G>A (p.Val151Met)	GGTLC1 (V151M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207140	NM_178311.3(GGTLC1):c.231G>A (p.Met77Ile)	GGTLC1 (M77I)	Single nucleotide variant (missense variant)	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 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 816120	GRCh37/hg19 20p11.21(chr20:23901818-24178740)x3	GGTLC1	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 785651	NM_178311.3(GGTLC1):c.325A>T (p.Met109Leu)	GGTLC1 (M109L)	Single nucleotide variant (missense variant)	not provided	GBenign
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 548966	GRCh37/hg19 20p11.22-11.21(chr20:21680345-24383453)x1	CD93, CST1 +17 more	Copy number loss	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)	DZANK1, E2F1 +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
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	ABHD12, ACSS1 +833 more	Copy number gain	See cases	GPathogenic
Select item 144320	GRCh38/hg38 20p11.21(chr20:23455996-24050737)x3	CST1, CST2 +16 more	Copy number gain	See cases	GUncertain significance
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 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +950 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	LOC126863004, LOC126863005 +814 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 40