9652[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic
Select item 150860	GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1	ADGRV1, ARB2A +436 more	Copy number loss	See cases	GPathogenic
Select item 57272	GRCh38/hg38 5q14.3-21.1(chr5:87376883-101524443)x1	LOC110120974, LOC110120977 +277 more	Copy number loss	See cases	GPathogenic
Select item 59664	GRCh38/hg38 5q14.3-21.2(chr5:89081352-104687248)x1	ADGRV1, ARB2A +275 more	Copy number loss	See cases	GPathogenic
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	LOC129994523, LOC129994524 +683 more	Copy number loss	See cases	GPathogenic
Select item 59667	GRCh38/hg38 5q14.3-15(chr5:91386552-98365880)x1	ARB2A, ARRDC3-AS1 +147 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	DMXL1, DMXL1-DT +496 more	Copy number loss	See cases	GPathogenic
Select item 155182	GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1	APC, ARB2A +343 more	Copy number loss	See cases	GPathogenic
Select item 59443	GRCh38/hg38 5q15(chr5:93405010-97716265)x3	ARB2A, ARSK +120 more	Copy number gain	See cases	GUncertain significance
Select item 150147	GRCh38/hg38 5q15(chr5:94902711-95930059)x3	ARSK, ELL2 +42 more	Copy number gain	See cases	GLikely benign
Select item 1283989	NM_014639.4(SKIC3):c.*77G>A	SKIC3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2437394	NM_014639.4(SKIC3):c.*1C>G	SKIC3	Single nucleotide variant (3 prime UTR variant)	Trichohepatoenteric syndrome 1	GUncertain significance
Select item 1604899	NM_014639.4(SKIC3):c.4695A>G (p.Ter1565=)	SKIC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1371642	NM_014639.4(SKIC3):c.4695A>C (p.Ter1565Tyr)	SKIC3	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 1572834	NM_014639.4(SKIC3):c.4686C>G (p.Ser1562=)	SKIC3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1418577	NM_014639.4(SKIC3):c.4682T>G (p.Leu1561Trp)	SKIC3 (L1561W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2172156	NM_014639.4(SKIC3):c.4672A>T (p.Asn1558Tyr)	SKIC3 (N1558Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1469248	NM_014639.4(SKIC3):c.4672A>G (p.Asn1558Asp)	SKIC3 (N1558D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1162979	NM_014639.4(SKIC3):c.4670T>C (p.Leu1557Pro)	SKIC3 (L1557P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2876671	NM_014639.4(SKIC3):c.4663T>C (p.Leu1555=)	SKIC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1667886	NM_014639.4(SKIC3):c.4657A>C (p.Arg1553=)	SKIC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1994522	NM_014639.4(SKIC3):c.4655C>T (p.Thr1552Ile)	SKIC3 (T1552I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1912045	NM_014639.4(SKIC3):c.4655C>G (p.Thr1552Arg)	SKIC3 (T1552R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2117237	NM_014639.4(SKIC3):c.4653T>A (p.Asp1551Glu)	SKIC3 (D1551E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1924068	NM_014639.4(SKIC3):c.4645C>T (p.His1549Tyr)	SKIC3 (H1549Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2017945	NM_014639.4(SKIC3):c.4639A>G (p.Lys1547Glu)	SKIC3 (K1547E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1918081	NM_014639.4(SKIC3):c.4638del (p.Thr1548fs)	SKIC3 (T1548fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1477638	NM_014639.4(SKIC3):c.4628T>C (p.Val1543Ala)	SKIC3 (V1543A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1427350	NM_014639.4(SKIC3):c.4628T>A (p.Val1543Glu)	SKIC3 (V1543E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2872218	NM_014639.4(SKIC3):c.4621-7C>T	SKIC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2841198	NM_014639.4(SKIC3):c.4621-9T>G	SKIC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2787740	NM_014639.4(SKIC3):c.4621-9T>A	SKIC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2770250	NM_014639.4(SKIC3):c.4621-11A>G	SKIC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961898	NM_014639.4(SKIC3):c.4621-16A>G	SKIC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2740238	NM_014639.4(SKIC3):c.4621-17T>A	SKIC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248445	NM_014639.4(SKIC3):c.4621-118A>G	SKIC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180180	NM_014639.4(SKIC3):c.4621-162C>T	SKIC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267238	NM_014639.4(SKIC3):c.4621-270T>C	SKIC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280286	NM_014639.4(SKIC3):c.4621-275A>C	SKIC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2989414	NM_014639.4(SKIC3):c.4620+18T>C	SKIC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1914870	NM_014639.4(SKIC3):c.4620+1G>A	SKIC3	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 31237	NM_014639.4(SKIC3):c.4620+1G>C	SKIC3	Single nucleotide variant (splice donor variant)	Trichohepatoenteric syndrome 1	GPathogenic
Select item 1478946	NM_014639.4(SKIC3):c.4620C>T (p.Asp1540=)	SKIC3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1413566	NM_014639.4(SKIC3):c.4597A>G (p.Lys1533Glu)	SKIC3 (K1533E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1547788	NM_014639.4(SKIC3):c.4587C>T (p.His1529=)	SKIC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1445031	NM_014639.4(SKIC3):c.4583G>A (p.Arg1528Lys)	SKIC3 (R1528K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2711563	NM_014639.4(SKIC3):c.4581G>T (p.Leu1527=)	SKIC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001265	NM_014639.4(SKIC3):c.4575_4580del (p.Tyr1525_Leu1527delinsTer)	SKIC3	Deletion (nonsense)	not provided	GPathogenic
Select item 3162654	NM_014639.4(SKIC3):c.4568G>A (p.Arg1523His)	SKIC3 (R1523H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1477265	NM_014639.4(SKIC3):c.4541A>G (p.Tyr1514Cys)	SKIC3 (Y1514C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1895924	NM_014639.4(SKIC3):c.4539G>A (p.Gly1513=)	SKIC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 546976	NM_014639.4(SKIC3):c.4534C>T (p.Pro1512Ser)	SKIC3 (P1512S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2976029	NM_014639.4(SKIC3):c.4531C>T (p.Gln1511Ter)	SKIC3 (Q1511*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1593446	NM_014639.4(SKIC3):c.4527A>G (p.Val1509=)	SKIC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2862644	NM_014639.4(SKIC3):c.4524G>T (p.Val1508=)	SKIC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972125	NM_014639.4(SKIC3):c.4521A>G (p.Arg1507=)	SKIC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1303190	NM_014639.4(SKIC3):c.4514T>C (p.Leu1505Ser)	SKIC3 (L1505S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2545501	NM_014639.4(SKIC3):c.4511T>G (p.Leu1504Arg)	SKIC3 (L1504R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1951354	NM_014639.4(SKIC3):c.4508G>A (p.Arg1503His)	SKIC3 (R1503H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 287653	NM_014639.4(SKIC3):c.4507C>T (p.Arg1503Cys)	SKIC3 (R1503C)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1430556	NM_014639.4(SKIC3):c.4505G>A (p.Arg1502Gln)	SKIC3 (R1502Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1480644	NM_014639.4(SKIC3):c.4504C>T (p.Arg1502Trp)	SKIC3 (R1502W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1518840	NM_014639.4(SKIC3):c.4502C>T (p.Thr1501Ile)	SKIC3 (T1501I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895583	NM_014639.4(SKIC3):c.4497-3dup	SKIC3	Duplication (intron variant)	not provided	GLikely benign
Select item 197471	NM_014639.4(SKIC3):c.4497-14dup	SKIC3	Duplication (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2996034	NM_014639.4(SKIC3):c.4497-5T>C	SKIC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1925827	NM_014639.4(SKIC3):c.4497-5del	SKIC3	Deletion (intron variant)	not provided	GBenign
Select item 1622875	NM_014639.4(SKIC3):c.4497-13_4497-12insC	SKIC3	Insertion (intron variant)	not provided	GLikely benign
Select item 1642277	NM_014639.4(SKIC3):c.4497-14T>A	SKIC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2807420	NM_014639.4(SKIC3):c.4497-20T>C	SKIC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1491196	NM_014639.4(SKIC3):c.4381_4496+580del	SKIC3	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 2704557	NM_014639.4(SKIC3):c.4496+19T>A	SKIC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2846547	NM_014639.4(SKIC3):c.4494A>G (p.Ala1498=)	SKIC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1586335	NM_014639.4(SKIC3):c.4491G>A (p.Gly1497=)	SKIC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1010539	NM_014639.4(SKIC3):c.4490G>A (p.Gly1497Glu)	SKIC3 (G1497E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3318725	NM_014639.4(SKIC3):c.4489G>T (p.Gly1497Trp)	SKIC3 (G1497W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3318724	NM_014639.4(SKIC3):c.4488G>T (p.Met1496Ile)	SKIC3 (M1496I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465339	NM_014639.4(SKIC3):c.4483A>C (p.Lys1495Gln)	SKIC3 (K1495Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1484189	NM_014639.4(SKIC3):c.4481G>A (p.Arg1494His)	SKIC3 (R1494H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1381282	NM_014639.4(SKIC3):c.4480C>T (p.Arg1494Cys)	SKIC3 (R1494C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2130824	NM_014639.4(SKIC3):c.4476C>G (p.Phe1492Leu)	SKIC3 (F1492L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2831478	NM_014639.4(SKIC3):c.4464T>C (p.Ala1488=)	SKIC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1030342	NM_014639.4(SKIC3):c.4460A>G (p.Gln1487Arg)	SKIC3 (Q1487R)	Single nucleotide variant (missense variant)	Trichohepatoenteric syndrome 1	GUncertain significance
Select item 1550144	NM_014639.4(SKIC3):c.4456T>C (p.Leu1486=)	SKIC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2804593	NM_014639.4(SKIC3):c.4446G>T (p.Leu1482=)	SKIC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2767047	NM_014639.4(SKIC3):c.4444C>T (p.Leu1482=)	SKIC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1395897	NM_014639.4(SKIC3):c.4443A>T (p.Pro1481=)	SKIC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1401622	NM_014639.4(SKIC3):c.4436T>A (p.Phe1479Tyr)	SKIC3 (F1479Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 728149	NM_014639.4(SKIC3):c.4428G>A (p.Lys1476=)	SKIC3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1020524	NM_014639.4(SKIC3):c.4414A>G (p.Thr1472Ala)	SKIC3 (T1472A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2086883	NM_014639.4(SKIC3):c.4413A>G (p.Thr1471=)	SKIC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2111694	NM_014639.4(SKIC3):c.4394C>A (p.Ser1465Tyr)	SKIC3 (S1465Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1030341	NM_014639.4(SKIC3):c.4382A>G (p.Asp1461Gly)	SKIC3 (D1461G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2080224	NM_014639.4(SKIC3):c.4379A>G (p.Asn1460Ser)	SKIC3 (N1460S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965863	NM_014639.4(SKIC3):c.4366-4A>G	SKIC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2828079	NM_014639.4(SKIC3):c.4366-12A>T	SKIC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234628	NM_014639.4(SKIC3):c.4366-84_4366-83dup	SKIC3	Duplication (intron variant)	not provided	GBenign
Select item 1258159	NM_014639.4(SKIC3):c.4366-128C>T	SKIC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177688	NM_014639.4(SKIC3):c.4366-143del	SKIC3	Deletion (intron variant)	not provided	GBenign

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