8195[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	ABHD12, ACSS1 +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 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	SPEF1, SPTLC3 +571 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	LOC105372493, LOC105372524 +579 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
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	ADAM33, ADISSP +581 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 145966	GRCh38/hg38 20p12.3-12.1(chr20:6617695-13392559)x1	ANKEF1, BMP2 +109 more	Copy number loss	See cases	GPathogenic
Select item 58946	GRCh38/hg38 20p12.3-12.2(chr20:7566644-11028694)x1	ANKEF1, HAO1 +71 more	Copy number loss	See cases	GPathogenic
Select item 148981	GRCh38/hg38 20p12.2-12.1(chr20:9290612-14648536)x3	ANKEF1, BTBD3 +87 more	Copy number gain	See cases	GUncertain significance
Select item 146031	GRCh38/hg38 20p12.2-12.1(chr20:9550975-12083434)x1	ANKEF1, BTBD3 +55 more	Copy number loss	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 652394	NC_000020.11:g.(?_10253609)_(10673550_?)del	LOC128706666, LOC130065416 +23 more	Deletion	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 337684	NM_170784.3(MKKS):c.*460T>C	MKKS	Single nucleotide variant (3 prime UTR variant +1 more)	McKusick-Kaufman syndrome +1 more	GUncertain significance
Select item 337685	NM_170784.3(MKKS):c.*435G>A	MKKS	Single nucleotide variant (3 prime UTR variant +1 more)	McKusick-Kaufman syndrome +1 more	GBenign
Select item 337686	NM_170784.3(MKKS):c.*392T>C	MKKS	Single nucleotide variant (3 prime UTR variant +1 more)	McKusick-Kaufman syndrome +1 more	GBenign
Select item 897364	NM_170784.3(MKKS):c.*112C>T	MKKS	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 6 +1 more	GUncertain significance
Select item 897365	NM_170784.3(MKKS):c.*103A>G	MKKS	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 6 +1 more	GUncertain significance
Select item 261058	NM_170784.3(MKKS):c.*46G>T	MKKS	Single nucleotide variant (3 prime UTR variant +1 more)	McKusick-Kaufman syndrome +3 more	GBenign/Likely benign
Select item 261057	NM_170784.3(MKKS):c.*38A>G	MKKS	Single nucleotide variant (3 prime UTR variant +1 more)	McKusick-Kaufman syndrome +3 more	GBenign/Likely benign
Select item 337687	NM_170784.3(MKKS):c.*21A>G	MKKS	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 6 +1 more	GUncertain significance
Select item 584330	NC_000020.11:g.(?_10405227)_(10413534_?)del	MKKS	Deletion	McKusick-Kaufman syndrome +1 more	GPathogenic
Select item 497899	NM_170784.3(MKKS):c.*10A>G	MKKS	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2945991	NM_170784.3(MKKS):c.1704T>C (p.Asp568=)	MKKS	Single nucleotide variant (synonymous variant +1 more)	McKusick-Kaufman syndrome +1 more	GLikely benign
Select item 337688	NM_170784.3(MKKS):c.1702G>C (p.Asp568His)	MKKS (D568H)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 6 +1 more	GUncertain significance
Select item 3053126	NM_170784.3(MKKS):c.1700A>T (p.Glu567Val)	MKKS (E567V)	Single nucleotide variant (missense variant +1 more)	MKKS-related disorder	GUncertain significance
Select item 2550493	NM_170784.3(MKKS):c.1696A>T (p.Ile566Phe)	MKKS (I566F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1105656	NM_170784.3(MKKS):c.1695T>C (p.Val565=)	MKKS	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +2 more	GLikely benign
Select item 2929530	NM_170784.3(MKKS):c.1692T>C (p.Tyr564=)	MKKS	Single nucleotide variant (synonymous variant +1 more)	McKusick-Kaufman syndrome +1 more	GLikely benign
Select item 1321427	NM_170784.3(MKKS):c.1692T>A (p.Tyr564Ter)	MKKS (Y564*)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 1896889	NM_170784.3(MKKS):c.1689A>G (p.Ser563=)	MKKS	Single nucleotide variant (synonymous variant +1 more)	McKusick-Kaufman syndrome +1 more	GLikely benign
Select item 1107214	NM_170784.3(MKKS):c.1689A>T (p.Ser563=)	MKKS	Single nucleotide variant (synonymous variant +1 more)	MKKS-related disorder +2 more	GLikely benign
Select item 939660	NM_170784.3(MKKS):c.1682A>T (p.Asp561Val)	MKKS (D561V)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 898520	NM_170784.3(MKKS):c.1670A>G (p.Asn557Ser)	MKKS (N557S)	Single nucleotide variant (missense variant +1 more)	McKusick-Kaufman syndrome +3 more	GUncertain significance
Select item 2401456	NM_170784.3(MKKS):c.1669A>C (p.Asn557His)	MKKS (N557H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1394360	NM_170784.3(MKKS):c.1664C>G (p.Thr555Arg)	MKKS (T555R)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 640342	NM_170784.3(MKKS):c.1654G>A (p.Ala552Thr)	MKKS (A552T)	Single nucleotide variant (missense variant +1 more)	McKusick-Kaufman syndrome +1 more	GUncertain significance
Select item 2075451	NM_170784.3(MKKS):c.1649A>C (p.Gln550Pro)	MKKS (Q550P)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 3064189	NM_170784.3(MKKS):c.1646T>C (p.Leu549Pro)	MKKS (L549P)	Single nucleotide variant (missense variant +1 more)	McKusick-Kaufman syndrome	GLikely pathogenic
Select item 898521	NM_170784.3(MKKS):c.1645C>T (p.Leu549=)	MKKS	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 6 +2 more	GConflicting classifications of pathogenicity
Select item 1002079	NM_170784.3(MKKS):c.1639A>G (p.Ser547Gly)	MKKS (S547G)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 2628704	NM_170784.3(MKKS):c.1630G>T (p.Ala544Ser)	MKKS (A544S)	Single nucleotide variant (missense variant +1 more)	MKKS-related disorder	GUncertain significance
Select item 2652202	NM_170784.3(MKKS):c.1626G>A (p.Leu542=)	MKKS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1030676	NM_170784.3(MKKS):c.1625T>G (p.Leu542Trp)	MKKS (L542W)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 6 +4 more	GUncertain significance
Select item 2555068	NM_170784.3(MKKS):c.1619A>G (p.Asp540Gly)	MKKS (D540G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2925972	NM_170784.3(MKKS):c.1611G>A (p.Leu537=)	MKKS	Single nucleotide variant (synonymous variant +1 more)	McKusick-Kaufman syndrome +1 more	GLikely benign
Select item 2941564	NM_170784.3(MKKS):c.1608C>T (p.Asn536=)	MKKS	Single nucleotide variant (synonymous variant +1 more)	McKusick-Kaufman syndrome +1 more	GLikely benign
Select item 1513869	NM_170784.3(MKKS):c.1606A>G (p.Asn536Asp)	MKKS (N536D)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 2932475	NM_170784.3(MKKS):c.1605C>T (p.Ser535=)	MKKS	Single nucleotide variant (synonymous variant +1 more)	McKusick-Kaufman syndrome +1 more	GLikely benign
Select item 1474112	NM_170784.3(MKKS):c.1605C>G (p.Ser535Arg)	MKKS (S535R)	Single nucleotide variant (missense variant +1 more)	McKusick-Kaufman syndrome +1 more	GUncertain significance
Select item 1991609	NM_170784.3(MKKS):c.1604G>A (p.Ser535Asn)	MKKS (S535N)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 705339	NM_170784.3(MKKS):c.1602C>T (p.Ala534=)	MKKS	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 1557003	NM_170784.3(MKKS):c.1599A>T (p.Ser533=)	MKKS	Single nucleotide variant (synonymous variant +1 more)	McKusick-Kaufman syndrome +1 more	GLikely benign
Select item 895531	NM_170784.3(MKKS):c.1598C>T (p.Ser533Leu)	MKKS (S533L)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 6 +1 more	GUncertain significance
Select item 95923	NM_170784.3(MKKS):c.1595G>T (p.Gly532Val)	MKKS (G532V)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 1355857	NM_170784.3(MKKS):c.1591G>C (p.Val531Leu)	MKKS (V531L)	Single nucleotide variant (non-coding transcript variant +1 more)	McKusick-Kaufman syndrome +1 more	GUncertain significance
Select item 1397443	NM_170784.3(MKKS):c.1589C>T (p.Ala530Val)	MKKS (A530V)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1392064	NM_170784.3(MKKS):c.1582_1587del (p.His528_Glu529del)	MKKS	Deletion (inframe_deletion +1 more)	McKusick-Kaufman syndrome +1 more	GUncertain significance
Select item 2111328	NM_170784.3(MKKS):c.1583A>G (p.His528Arg)	MKKS (H528R)	Single nucleotide variant (non-coding transcript variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1501636	NM_170784.3(MKKS):c.1580C>T (p.Pro527Leu)	MKKS (P527L)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1648160	NM_170784.3(MKKS):c.1578T>G (p.Leu526=)	MKKS	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 1446338	NM_170784.3(MKKS):c.1576C>A (p.Leu526Ile)	MKKS (L526I)	Single nucleotide variant (missense variant +1 more)	McKusick-Kaufman syndrome +1 more	GUncertain significance
Select item 1520941	NM_170784.3(MKKS):c.1573dup (p.Cys525fs)	MKKS (C525fs)	Duplication (frameshift variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1545618	NM_170784.3(MKKS):c.1572C>T (p.Ser524=)	MKKS	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2924685	NM_170784.3(MKKS):c.1569A>G (p.Gln523=)	MKKS	Single nucleotide variant (synonymous variant +1 more)	McKusick-Kaufman syndrome +1 more	GLikely benign
Select item 1337234	NM_170784.3(MKKS):c.1562T>G (p.Val521Gly)	MKKS (V521G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 215903	NM_170784.3(MKKS):c.1553G>A (p.Arg518His)	MKKS (R518H)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2079425	NM_170784.3(MKKS):c.1550G>A (p.Arg517His)	MKKS (R517H)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 2949240	NM_170784.3(MKKS):c.1548_1549delinsCT (p.Arg517Cys)	MKKS (R517C)	Indel (missense variant +1 more)	McKusick-Kaufman syndrome +1 more	GLikely benign
Select item 95922	NM_170784.3(MKKS):c.1549C>T (p.Arg517Cys)	MKKS (R517C)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +4 more	GBenign
Select item 2949029	NM_170784.3(MKKS):c.1545C>T (p.Ser515=)	MKKS	Single nucleotide variant (synonymous variant +1 more)	McKusick-Kaufman syndrome +1 more	GLikely benign
Select item 1410840	NM_170784.3(MKKS):c.1534T>A (p.Phe512Ile)	MKKS (F512I)	Single nucleotide variant (missense variant +1 more)	McKusick-Kaufman syndrome +1 more	GUncertain significance
Select item 2683529	NM_170784.3(MKKS):c.1530G>A (p.Trp510Ter)	MKKS (W510*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome +2 more	GConflicting classifications of pathogenicity
Select item 3217854	NM_170784.3(MKKS):c.1526A>G (p.Asn509Ser)	MKKS (N509S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2500158	NM_170784.3(MKKS):c.1526A>T (p.Asn509Ile)	MKKS (N509I)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 2689428	NM_170784.3(MKKS):c.1516GAA[3] (p.Glu507_Leu508insGlu)	MKKS	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 1041520	NM_170784.3(MKKS):c.1511G>A (p.Ser504Asn)	MKKS (S504N)	Single nucleotide variant (missense variant +1 more)	MKKS-related disorder +2 more	GUncertain significance
Select item 1024074	NM_170784.3(MKKS):c.1505A>G (p.Tyr502Cys)	MKKS (Y502C)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 5319	NM_170784.3(MKKS):c.1496G>C (p.Cys499Ser)	MKKS (C499S)	Single nucleotide variant (missense variant +1 more)	Bardet-biedl syndrome 2/6, digenic	GPathogenic
Select item 1691314	NM_170784.3(MKKS):c.1490G>A (p.Cys497Tyr)	MKKS (C497Y)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 6 +2 more	GUncertain significance
Select item 2676541	NM_170784.3(MKKS):c.1486C>T (p.Gln496Ter)	MKKS (Q496*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 6	GLikely pathogenic
Select item 585165	NM_170784.3(MKKS):c.1478del (p.Leu493fs)	MKKS (L493fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 852291	NM_170784.3(MKKS):c.1474G>C (p.Asp492His)	MKKS (D492H)	Single nucleotide variant (missense variant +1 more)	McKusick-Kaufman syndrome +1 more	GUncertain significance
Select item 95921	NM_170784.3(MKKS):c.1474G>A (p.Asp492Asn)	MKKS (D492N)	Single nucleotide variant (missense variant +1 more)	MKKS-related disorder +5 more	GUncertain significance
Select item 1515123	NM_170784.3(MKKS):c.1470G>T (p.Trp490Cys)	MKKS (W490C)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1613391	NM_170784.3(MKKS):c.1464T>C (p.Ala488=)	MKKS	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 591147	NM_170784.3(MKKS):c.1462_1463delinsAT (p.Ala488Ile)	MKKS (A488I)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 261059	NM_170784.3(MKKS):c.1462G>A (p.Ala488Thr)	MKKS (A488T)	Single nucleotide variant (missense variant +1 more)	McKusick-Kaufman syndrome +4 more	GBenign/Likely benign
Select item 1419303	NM_170784.3(MKKS):c.1457G>A (p.Cys486Tyr)	MKKS (C486Y)	Single nucleotide variant (missense variant +1 more)	McKusick-Kaufman syndrome +1 more	GUncertain significance
Select item 1366303	NM_170784.3(MKKS):c.1454C>T (p.Pro485Leu)	MKKS (P485L)	Single nucleotide variant (missense variant +1 more)	McKusick-Kaufman syndrome +1 more	GUncertain significance
Select item 1715738	NM_170784.3(MKKS):c.1447G>T (p.Asp483Tyr)	MKKS (D483Y)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 2092202	NM_170784.3(MKKS):c.1445C>A (p.Ala482Glu)	MKKS (A482E)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1715377	NM_170784.3(MKKS):c.1438G>A (p.Val480Ile)	MKKS (V480I)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 2947100	NM_170784.3(MKKS):c.1437A>G (p.Ser479=)	MKKS	Single nucleotide variant (synonymous variant +1 more)	McKusick-Kaufman syndrome +1 more	GLikely benign
Select item 1297700	NM_170784.3(MKKS):c.1436C>G (p.Ser479Ter)	MKKS (S479*)	Single nucleotide variant (non-coding transcript variant +1 more)	McKusick-Kaufman syndrome +2 more	GPathogenic
Select item 2676540	NM_170784.3(MKKS):c.1434G>A (p.Trp478Ter)	MKKS (W478*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome +2 more	GPathogenic/Likely pathogenic
Select item 2176782	NM_170784.3(MKKS):c.1432T>A (p.Trp478Arg)	MKKS (W478R)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1110789	NM_170784.3(MKKS):c.1422T>C (p.Tyr474=)	MKKS	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign

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