7835[HGNC] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 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 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	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 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 2499628	GRCh38/hg38 20p11.22(chr20:21386174-21530996)	LOC110121332, LOC112268271 +6 more	Copy number loss	See cases	GUncertain significance
Select item 3200350	NM_002509.4(NKX2-2):c.781A>G (p.Thr261Ala)	NKX2-2 (T261A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1524637	NM_002509.4(NKX2-2):c.730C>T (p.His244Tyr)	NKX2-2 (H244Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1586975	NM_002509.4(NKX2-2):c.723G>A (p.Ser241=)	NKX2-2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2198920	NM_002509.4(NKX2-2):c.717G>T (p.Ala239=)	NKX2-2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1495925	NM_002509.4(NKX2-2):c.716C>T (p.Ala239Val)	NKX2-2 (A239V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3020252	NM_002509.4(NKX2-2):c.693C>A (p.Gly231=)	NKX2-2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3200349	NM_002509.4(NKX2-2):c.688G>A (p.Ala230Thr)	NKX2-2 (A159T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2721316	NM_002509.4(NKX2-2):c.677C>T (p.Ala226Val)	NKX2-2 (A155V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2906568	NM_002509.4(NKX2-2):c.606G>T (p.Arg202=)	NKX2-2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2710900	NM_002509.4(NKX2-2):c.534C>T (p.Asn178=)	NKX2-2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2631631	NM_002509.4(NKX2-2):c.524G>A (p.Trp175Ter)	NKX2-2 (W104* +1 more)	Single nucleotide variant (nonsense)	NKX2-2-related disorder	GUncertain significance
Select item 2977928	NM_002509.4(NKX2-2):c.462G>T (p.Ser154=)	NKX2-2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956976	NM_002509.4(NKX2-2):c.385C>A (p.Arg129=)	NKX2-2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2180011	NM_002509.4(NKX2-2):c.369G>A (p.Gly123=)	NKX2-2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1664223	NM_002509.4(NKX2-2):c.365G>C (p.Gly122Ala)	NKX2-2 (G122A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2736955	NM_002509.4(NKX2-2):c.356del (p.Pro119fs)	NKX2-2 (P119fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1336768	NM_002509.4(NKX2-2):c.296C>T (p.Ser99Leu)	NKX2-2 (S99L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1502373	NM_002509.4(NKX2-2):c.286C>A (p.Pro96Thr)	NKX2-2 (P96T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3030944	NM_002509.4(NKX2-2):c.267T>C (p.Gly89=)	NKX2-2	Single nucleotide variant (synonymous variant)	NKX2-2-related disorder	GLikely benign
Select item 2231429	NM_002509.4(NKX2-2):c.266G>A (p.Gly89Asp)	NKX2-2 (G89D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2192228	NM_002509.4(NKX2-2):c.260-4C>G	NKX2-2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1909763	NM_002509.4(NKX2-2):c.260-4C>T	NKX2-2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270926	NM_002509.4(NKX2-2):c.259+274G>T	NKX2-2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2152769	NM_002509.4(NKX2-2):c.259C>T (p.Leu87=)	NKX2-2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2229176	NM_002509.4(NKX2-2):c.223C>A (p.Arg75Ser)	NKX2-2 (R75S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3357581	NM_002509.4(NKX2-2):c.206G>A (p.Ser69Asn)	NKX2-2 (S69N)	Single nucleotide variant (missense variant)	NKX2-2-related disorder	GUncertain significance
Select item 1949569	NM_002509.4(NKX2-2):c.192C>T (p.Pro64=)	NKX2-2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2718780	NM_002509.4(NKX2-2):c.135C>T (p.Ala45=)	NKX2-2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1275272	NM_002509.4(NKX2-2):c.124G>A (p.Ala42Thr)	NKX2-2 (A42T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3050186	NM_002509.4(NKX2-2):c.121C>T (p.Pro41Ser)	NKX2-2 (P41S)	Single nucleotide variant (missense variant)	NKX2-2-related disorder	GLikely benign
Select item 1336178	NM_002509.4(NKX2-2):c.108C>A (p.Asn36Lys)	NKX2-2 (N36K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1168951	NM_002509.4(NKX2-2):c.95C>T (p.Pro32Leu)	NKX2-2 (P32L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2163871	NM_002509.4(NKX2-2):c.94C>G (p.Pro32Ala)	NKX2-2 (P32A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1336112	NM_002509.4(NKX2-2):c.33G>T (p.Ser11=)	NKX2-2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1554829	NM_002509.4(NKX2-2):c.6G>T (p.Ser2=)	NKX2-2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1279982	NM_002509.4(NKX2-2):c.-75G>A	NKX2-2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 3068499	Single allele	CFAP61, CRNKL1 +10 more	Complex	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
Select item 3068498	NC_000020.10:g.16400000_24400000del	BANF2, BFSP1 +49 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3068497	NC_000020.10:g.18200000_22600000del	CFAP61, CRNKL1 +19 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3068496	NC_000020.10:g.19434987_22528253del	CFAP61, CRNKL1 +10 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 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	THBD, TMC2 +164 more	Copy number gain	not provided	GPathogenic
Select item 1526687	GRCh37/hg19 20p11.22(chr20:21436009-21984316)	NKX2-2, PAX1	Copy number gain	not specified	GUncertain significance
Select item 1526686	GRCh37/hg19 20p11.23-11.22(chr20:19292925-22187397)	CFAP61, CRNKL1 +10 more	Copy number loss	not specified	GPathogenic
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 1340948	GRCh37/hg19 20p11.23-11.22(chr20:21098319-21512672)x3	KIZ, NKX2-2 +2 more	Copy number gain	not provided	GUncertain significance
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 816114	GRCh37/hg19 20p12.3-11.22(chr20:8571696-22088650)x1	ANKEF1, BANF2 +49 more	Copy number loss	not provided	GPathogenic
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 686437	GRCh37/hg19 20p11.23-11.22(chr20:20817608-21771865)x3	KIZ, NKX2-2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 564639	GRCh37/hg19 20p11.23-11.21(chr20:21011162-22353628)x3	PAX1, XRN2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 560101	Single allele	HCK, HM13 +89 more	Duplication	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 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	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 253408	GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3	CCM2L, CD93 +89 more	Copy number gain	See cases	GPathogenic

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Items: 65