9657[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	AMOTL2, DNAJC13 +1343 more	Copy number gain	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	ALCAM, BTLA +637 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	ABHD10, ABI3BP +681 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937351, LOC129937424 +570 more	Copy number loss	See cases	GPathogenic
Select item 153722	GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1	ADCY5, ADPRH +286 more	Copy number loss	See cases	GPathogenic
Select item 146711	GRCh38/hg38 3q13.31-21.1(chr3:115019074-122513398)x1	ADPRH, ARGFX +199 more	Copy number loss	See cases	GPathogenic
Select item 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	GOLGB1, LOC129389118 +326 more	Copy number loss	See cases	GPathogenic
Select item 57806	GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1	LOC126806792, LOC126806793 +291 more	Copy number loss	See cases	GPathogenic
Select item 57829	GRCh38/hg38 3q13.33-21.2(chr3:121644209-125676353)x1	ADCY5, CASR +182 more	Copy number loss	See cases	GPathogenic
Select item 899816	NM_001023570.4(IQCB1):c.*399A>G	IQCB1	Single nucleotide variant (3 prime UTR variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 899817	NM_001023570.4(IQCB1):c.*327T>C	IQCB1	Single nucleotide variant (3 prime UTR variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 342767	NM_001023570.4(IQCB1):c.*226T>C	IQCB1	Single nucleotide variant (3 prime UTR variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 899818	NM_001023570.4(IQCB1):c.*218G>A	IQCB1	Single nucleotide variant (3 prime UTR variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 342768	NM_001023570.4(IQCB1):c.*197G>C	IQCB1	Single nucleotide variant (3 prime UTR variant +1 more)	Senior-Loken syndrome 5 +1 more	GBenign
Select item 900978	NM_001023570.4(IQCB1):c.*160C>T	IQCB1	Single nucleotide variant (3 prime UTR variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 900979	NM_001023570.4(IQCB1):c.*151T>C	IQCB1	Single nucleotide variant (3 prime UTR variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 900980	NM_001023570.4(IQCB1):c.*148T>C	IQCB1	Single nucleotide variant (3 prime UTR variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 1035408	NM_001023570.4(IQCB1):c.1769T>G (p.Leu590Ter)	IQCB1 (L590* +1 more)	Single nucleotide variant (nonsense +1 more)	Nephronophthisis	GUncertain significance
Select item 2252124	NM_001023570.4(IQCB1):c.1763A>C (p.Glu588Ala)	IQCB1 (E455A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2718728	NM_001023570.4(IQCB1):c.1752T>C (p.Ser584=)	IQCB1	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 1429502	NM_001023570.4(IQCB1):c.1751G>A (p.Ser584Asn)	IQCB1 (S584N +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 1141451	NM_001023570.4(IQCB1):c.1746G>A (p.Glu582=)	IQCB1	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 1009255	NM_001023570.4(IQCB1):c.1741G>C (p.Asp581His)	IQCB1 (D448H +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +1 more	GUncertain significance
Select item 342769	NM_001023570.4(IQCB1):c.1739A>C (p.Lys580Thr)	IQCB1 (K580T +1 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 1501327	NM_001023570.4(IQCB1):c.1738A>C (p.Lys580Gln)	IQCB1 (K580Q +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 1434961	NM_001023570.4(IQCB1):c.1727T>C (p.Ile576Thr)	IQCB1 (I443T +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +1 more	GUncertain significance
Select item 1965841	NM_001023570.4(IQCB1):c.1720G>A (p.Asp574Asn)	IQCB1 (D441N +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 1506262	NM_001023570.4(IQCB1):c.1711G>T (p.Glu571Ter)	IQCB1 (E571* +1 more)	Single nucleotide variant (nonsense +1 more)	Nephronophthisis	GUncertain significance
Select item 1950824	NM_001023570.4(IQCB1):c.1707A>T (p.Gly569=)	IQCB1	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 2003153	NM_001023570.4(IQCB1):c.1706G>C (p.Gly569Ala)	IQCB1 (G436A +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 695529	NM_001023570.4(IQCB1):c.1703T>C (p.Leu568Pro)	IQCB1 (L435P +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +1 more	GLikely benign
Select item 1145271	NM_001023570.4(IQCB1):c.1689C>T (p.Pro563=)	IQCB1	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 1428621	NM_001023570.4(IQCB1):c.1688C>G (p.Pro563Arg)	IQCB1 (P563R +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 1714577	NM_001023570.4(IQCB1):c.1687C>G (p.Pro563Ala)	IQCB1 (P430A +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 1017957	NM_001023570.4(IQCB1):c.1681C>G (p.Gln561Glu)	IQCB1 (Q428E +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 2067930	NM_001023570.4(IQCB1):c.1678A>G (p.Ile560Val)	IQCB1 (I427V +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 938618	NM_001023570.4(IQCB1):c.1675C>G (p.His559Asp)	IQCB1 (H559D +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 1052303	NM_001023570.4(IQCB1):c.1667C>T (p.Thr556Ile)	IQCB1 (T423I +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 840360	NM_001023570.4(IQCB1):c.1657C>T (p.His553Tyr)	IQCB1 (H420Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 900981	NM_001023570.4(IQCB1):c.1656C>G (p.Ala552=)	IQCB1	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis +1 more	GConflicting classifications of pathogenicity
Select item 1901736	NM_001023570.4(IQCB1):c.1655C>T (p.Ala552Val)	IQCB1 (A419V +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 2693222	NM_001023570.4(IQCB1):c.1647C>G (p.Ala549=)	IQCB1	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 560465	NM_001023570.4(IQCB1):c.1632_1638dup (p.Ala547fs)	IQCB1 (A414fs +1 more)	Duplication (frameshift variant +1 more)	Nephronophthisis	GUncertain significance
Select item 1450503	NM_001023570.4(IQCB1):c.1634T>C (p.Val545Ala)	IQCB1 (V412A +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 342770	NM_001023570.4(IQCB1):c.1611C>T (p.Leu537=)	IQCB1	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis +1 more	GConflicting classifications of pathogenicity
Select item 1151820	NM_001023570.4(IQCB1):c.1608G>A (p.Glu536=)	IQCB1	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 2791387	NM_001023570.4(IQCB1):c.1605T>C (p.Pro535=)	IQCB1	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 2676178	NM_001023570.4(IQCB1):c.1602del (p.Glu534fs)	IQCB1 (E401fs +1 more)	Deletion (frameshift variant +1 more)	Senior-Loken syndrome 5	GLikely pathogenic
Select item 342771	NM_001023570.4(IQCB1):c.1595G>A (p.Gly532Glu)	IQCB1 (G532E +1 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 1057261	NM_001023570.4(IQCB1):c.1594G>A (p.Gly532Arg)	IQCB1 (G399R +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +1 more	GUncertain significance
Select item 1416514	NM_001023570.4(IQCB1):c.1589C>A (p.Ala530Glu)	IQCB1 (A397E +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 2099785	NM_001023570.4(IQCB1):c.1574_1576del (p.Pro525_Ser526delinsArg)	IQCB1	Deletion (non-coding transcript variant +1 more)	Nephronophthisis	GUncertain significance
Select item 1358616	NM_001023570.4(IQCB1):c.1576A>C (p.Ser526Arg)	IQCB1 (S393R +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +1 more	GUncertain significance
Select item 1955021	NM_001023570.4(IQCB1):c.1573C>T (p.Pro525Ser)	IQCB1 (P525S +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 1001739	NM_001023570.4(IQCB1):c.1573C>A (p.Pro525Thr)	IQCB1 (P392T +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 2799338	NM_001023570.4(IQCB1):c.1568-6C>T	IQCB1	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 1484604	NM_001023570.4(IQCB1):c.1568-10T>C	IQCB1	Single nucleotide variant (intron variant)	Nephronophthisis +1 more	GLikely benign
Select item 2025029	NM_001023570.4(IQCB1):c.1568-11G>A	IQCB1	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 2071316	NM_001023570.4(IQCB1):c.1568-13C>T	IQCB1	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 2077284	NM_001023570.4(IQCB1):c.1568-19T>A	IQCB1	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 257092	NM_001023570.4(IQCB1):c.1568-19del	IQCB1	Deletion (intron variant)	not specified +2 more	GBenign
Select item 1240603	NM_001023570.4(IQCB1):c.1568-191G>T	IQCB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235397	NM_001023570.4(IQCB1):c.1567+292C>G	IQCB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2152062	NM_001023570.4(IQCB1):c.1567+20T>C	IQCB1	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 2418008	NM_001023570.4(IQCB1):c.1567+17C>T	IQCB1	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 2963985	NM_001023570.4(IQCB1):c.1567+10C>G	IQCB1	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 853773	NM_001023570.4(IQCB1):c.1567+5del	IQCB1	Deletion (intron variant)	Nephronophthisis	GUncertain significance
Select item 2142322	NM_001023570.4(IQCB1):c.1567+4T>C	IQCB1	Single nucleotide variant (intron variant)	Nephronophthisis	GUncertain significance
Select item 998822	NM_001023570.4(IQCB1):c.1567+3A>G	IQCB1	Single nucleotide variant (intron variant)	Nephronophthisis +1 more	GUncertain significance
Select item 2187016	NM_001023570.4(IQCB1):c.1563A>G (p.Leu521=)	IQCB1	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 2676174	NM_001023570.4(IQCB1):c.1557dup (p.Gln520fs)	IQCB1 (Q387fs +1 more)	Duplication (frameshift variant +1 more)	Senior-Loken syndrome 5	GLikely pathogenic
Select item 449717	NM_001023570.4(IQCB1):c.1558C>T (p.Gln520Ter)	IQCB1 (Q520* +1 more)	Single nucleotide variant (nonsense +1 more)	Nephronophthisis +3 more	GConflicting classifications of pathogenicity
Select item 839146	NM_001023570.4(IQCB1):c.1552G>A (p.Val518Ile)	IQCB1 (V385I +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +1 more	GUncertain significance
Select item 1627266	NM_001023570.4(IQCB1):c.1551C>T (p.Asn517=)	IQCB1	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 1400735	NM_001023570.4(IQCB1):c.1550A>G (p.Asn517Ser)	IQCB1 (N384S +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 954309	NM_001023570.4(IQCB1):c.1549A>G (p.Asn517Asp)	IQCB1 (N384D +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 215481	NM_001023570.4(IQCB1):c.1549A>T (p.Asn517Tyr)	IQCB1 (N517Y +1 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 5 +4 more	GConflicting classifications of pathogenicity
Select item 342772	NM_001023570.4(IQCB1):c.1544G>T (p.Ser515Ile)	IQCB1 (S515I +1 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 3220927	NM_001023570.4(IQCB1):c.1540dup (p.Ile514fs)	IQCB1 (I381fs +1 more)	Duplication (frameshift variant +1 more)	Senior-Loken syndrome 5	GLikely pathogenic
Select item 1983358	NM_001023570.4(IQCB1):c.1532_1536dup (p.Gln513Ter)	IQCB1 (Q513* +1 more)	Duplication (nonsense +1 more)	Nephronophthisis +1 more	GPathogenic
Select item 156379	NM_001023570.4(IQCB1):c.1522_1523dup (p.Ala509fs)	IQCB1 (A509fs +1 more)	Microsatellite (frameshift variant +1 more)	Nephronophthisis +1 more	GPathogenic/Likely pathogenic
Select item 93469	NM_001023570.4(IQCB1):c.1518_1519del (p.His506fs)	IQCB1 (H373fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided +2 more	GPathogenic
Select item 1550055	NM_001023570.4(IQCB1):c.1518C>T (p.His506=)	IQCB1	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 1484893	NM_001023570.4(IQCB1):c.1516C>A (p.His506Asn)	IQCB1 (H373N +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 419171	NM_001023570.4(IQCB1):c.1513del (p.Gln505fs)	IQCB1 (Q372fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2025068	NM_001023570.4(IQCB1):c.1510C>T (p.Gln504Ter)	IQCB1 (Q371* +1 more)	Single nucleotide variant (nonsense +1 more)	Nephronophthisis	GPathogenic
Select item 901542	NM_001023570.4(IQCB1):c.1509C>G (p.Ala503=)	IQCB1	Single nucleotide variant (synonymous variant +1 more)	Senior-Loken syndrome 5 +1 more	GBenign/Likely benign
Select item 1448167	NM_001023570.4(IQCB1):c.1505G>A (p.Arg502Gln)	IQCB1 (R369Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 569196	NM_001023570.4(IQCB1):c.1504C>T (p.Arg502Ter)	IQCB1 (R502* +1 more)	Single nucleotide variant (nonsense +1 more)	Senior-Loken syndrome 5 +2 more	GPathogenic
Select item 2111084	NM_001023570.4(IQCB1):c.1499A>G (p.Glu500Gly)	IQCB1 (E500G +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 2074666	NM_001023570.4(IQCB1):c.1498G>A (p.Glu500Lys)	IQCB1 (E500K +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 1974656	NM_001023570.4(IQCB1):c.1496del (p.Leu499fs)	IQCB1 (L499fs +1 more)	Deletion (frameshift variant +1 more)	Nephronophthisis	GPathogenic
Select item 2480018	NM_001023570.4(IQCB1):c.1491G>C (p.Arg497Ser)	IQCB1 (R364S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 998779	NM_001023570.4(IQCB1):c.1491G>T (p.Arg497Ser)	IQCB1 (R364S +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 2068570	NM_001023570.4(IQCB1):c.1487G>A (p.Gly496Asp)	IQCB1 (G496D +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 1354136	NM_001023570.4(IQCB1):c.1484T>C (p.Met495Thr)	IQCB1 (M362T +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 2050191	NM_001023570.4(IQCB1):c.1471C>T (p.Gln491Ter)	IQCB1 (Q491* +1 more)	Single nucleotide variant (nonsense +1 more)	Nephronophthisis	GPathogenic
Select item 697970	NM_001023570.4(IQCB1):c.1470G>C (p.Leu490=)	IQCB1	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 839885	NM_001023570.4(IQCB1):c.1466G>A (p.Arg489Gln)	IQCB1 (R356Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity

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