Related gene-specific medical variations for Gene (Select 9657) - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3588339	NM_001023570.4(IQCB1):c.-102+1G>A	IQCB1	Single nucleotide variant (splice donor variant)	Senior-Loken syndrome 5	GUncertain significance
Select item 3588338	NM_001023570.4(IQCB1):c.238A>G (p.Ile80Val)	IQCB1 (I80V)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 3588337	NM_001023570.4(IQCB1):c.264-10C>G	IQCB1	Single nucleotide variant (intron variant)	Senior-Loken syndrome 5	GUncertain significance
Select item 3588336	NM_001023570.4(IQCB1):c.306A>C (p.Glu102Asp)	IQCB1 (E102D)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 3588335	NM_001023570.4(IQCB1):c.503A>G (p.His168Arg)	IQCB1 (H168R)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 3588334	NM_001023570.4(IQCB1):c.510dup (p.His171fs)	IQCB1 (H171fs)	Duplication (frameshift variant +1 more)	Senior-Loken syndrome 5	GLikely pathogenic
Select item 3588333	NM_001023570.4(IQCB1):c.536A>C (p.Gln179Pro)	IQCB1 (Q179P)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 3588332	NM_001023570.4(IQCB1):c.553A>G (p.Met185Val)	IQCB1 (M185V)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 3588331	NM_001023570.4(IQCB1):c.587+3G>A	IQCB1	Single nucleotide variant (intron variant)	Senior-Loken syndrome 5	GUncertain significance
Select item 3588330	NM_001023570.4(IQCB1):c.588-1G>A	IQCB1	Single nucleotide variant (splice acceptor variant +1 more)	Senior-Loken syndrome 5	GLikely pathogenic
Select item 3588329	NM_001023570.4(IQCB1):c.617C>T (p.Ala206Val)	IQCB1 (A206V)	Single nucleotide variant (missense variant +2 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 3588328	NM_001023570.4(IQCB1):c.652C>G (p.Leu218Val)	IQCB1 (L218V)	Single nucleotide variant (missense variant +2 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 3588327	NM_001023570.4(IQCB1):c.685A>G (p.Thr229Ala)	IQCB1 (T229A)	Single nucleotide variant (missense variant +2 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 3588326	NM_001023570.4(IQCB1):c.694A>C (p.Lys232Gln)	IQCB1 (K232Q)	Single nucleotide variant (missense variant +2 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 3588325	NM_001023570.4(IQCB1):c.787A>G (p.Lys263Glu)	IQCB1 (K263E)	Single nucleotide variant (missense variant +2 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 3588324	NM_001023570.4(IQCB1):c.902T>C (p.Ile301Thr)	IQCB1 (I301T)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 3588323	NM_001023570.4(IQCB1):c.949C>T (p.Leu317Phe)	IQCB1 (L317F)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 3588322	NM_001023570.4(IQCB1):c.962T>A (p.Val321Glu)	IQCB1 (V321E)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 3588321	NM_001023570.4(IQCB1):c.1043T>A (p.Leu348His)	IQCB1 (L215H +1 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 3588320	NM_001023570.4(IQCB1):c.1091G>A (p.Arg364Gln)	IQCB1 (R364Q +1 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 3588319	NM_001023570.4(IQCB1):c.1117A>G (p.Ile373Val)	IQCB1 (I373V +1 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 3588318	NM_001023570.4(IQCB1):c.1134G>T (p.Gln378His)	IQCB1 (Q245H +1 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 3588317	NM_001023570.4(IQCB1):c.1145A>C (p.His382Pro)	IQCB1 (H382P +1 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 3588316	NM_001023570.4(IQCB1):c.1156A>G (p.Met386Val)	IQCB1 (M253V +1 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 3588315	NM_001023570.4(IQCB1):c.1280C>G (p.Ala427Gly)	IQCB1 (A294G +1 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 3588314	NM_001023570.4(IQCB1):c.1297A>G (p.Lys433Glu)	IQCB1 (K433E +1 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 3588313	NM_001023570.4(IQCB1):c.1309A>G (p.Lys437Glu)	IQCB1 (K304E +1 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 3588312	NM_001023570.4(IQCB1):c.1345G>T (p.Glu449Ter)	IQCB1 (E449* +1 more)	Single nucleotide variant (nonsense +1 more)	Senior-Loken syndrome 5	GLikely pathogenic
Select item 3588311	NM_001023570.4(IQCB1):c.1361G>A (p.Arg454His)	IQCB1 (R321H +1 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 3588310	NM_001023570.4(IQCB1):c.1366G>A (p.Val456Ile)	IQCB1 (V323I +1 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 3588309	NM_001023570.4(IQCB1):c.1387G>A (p.Asp463Asn)	IQCB1 (D330N +1 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 3588308	NM_001023570.4(IQCB1):c.1411G>T (p.Gly471Cys)	IQCB1 (G338C +1 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 3588307	NM_001023570.4(IQCB1):c.1453C>G (p.Gln485Glu)	IQCB1 (Q352E +1 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 3588306	NM_001023570.4(IQCB1):c.1480T>A (p.Phe494Ile)	IQCB1 (F494I +1 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 3588305	NM_001023570.4(IQCB1):c.1492G>A (p.Ala498Thr)	IQCB1 (A498T +1 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 3588304	NM_001023570.4(IQCB1):c.1535C>T (p.Ala512Val)	IQCB1 (A379V +1 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 3588303	NM_001023570.4(IQCB1):c.1574C>T (p.Pro525Leu)	IQCB1 (P525L +1 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 3588302	NM_001023570.4(IQCB1):c.1598A>G (p.Lys533Arg)	IQCB1 (K533R +1 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 3588301	NM_001023570.4(IQCB1):c.1649A>G (p.Lys550Arg)	IQCB1 (K417R +1 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 3588300	NM_001023570.4(IQCB1):c.1658A>C (p.His553Pro)	IQCB1 (H420P +1 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 3588299	NM_001023570.4(IQCB1):c.1692G>A (p.Trp564Ter)	IQCB1 (W431* +1 more)	Single nucleotide variant (nonsense +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 3361188	NM_001023570.4(IQCB1):c.236C>T (p.Thr79Ile)	IQCB1 (T79I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3241783	NM_001023570.4(IQCB1):c.1568-2A>G	IQCB1	Single nucleotide variant (splice acceptor variant)	Senior-Loken syndrome 5	GLikely pathogenic
Select item 3241782	NM_001023570.4(IQCB1):c.487+1G>A	IQCB1	Single nucleotide variant (splice donor variant)	Senior-Loken syndrome 5	GLikely pathogenic
Select item 3241781	NM_001023570.4(IQCB1):c.780dup (p.Leu261fs)	IQCB1 (L261fs)	Duplication (frameshift variant +2 more)	Senior-Loken syndrome 5	GLikely pathogenic
Select item 3241780	NM_001023570.4(IQCB1):c.986+1G>T	IQCB1	Single nucleotide variant (splice donor variant +1 more)	Senior-Loken syndrome 5	GLikely pathogenic
Select item 3241779	NM_001023570.4(IQCB1):c.479_482del (p.Ile160fs)	IQCB1 (I160fs)	Deletion (frameshift variant +1 more)	Senior-Loken syndrome 5	GPathogenic
Select item 3241778	NM_001023570.4(IQCB1):c.1129+1G>A	IQCB1	Single nucleotide variant (splice donor variant)	Senior-Loken syndrome 5	GLikely pathogenic
Select item 3241776	NM_001023570.4(IQCB1):c.263+201del	IQCB1	Deletion (intron variant)	Senior-Loken syndrome 5	GPathogenic
Select item 3241775	NM_001023570.4(IQCB1):c.1342C>T (p.Gln448Ter)	IQCB1 (Q315* +1 more)	Single nucleotide variant (nonsense +1 more)	Senior-Loken syndrome 5	GPathogenic
Select item 3241774	NM_001023570.4(IQCB1):c.717dup (p.Ser240fs)	IQCB1 (S240fs)	Duplication (frameshift variant +2 more)	Senior-Loken syndrome 5	GLikely pathogenic
Select item 3241773	NM_001023570.4(IQCB1):c.814C>T (p.Gln272Ter)	IQCB1 (Q272*)	Single nucleotide variant (nonsense +2 more)	Senior-Loken syndrome 5	GPathogenic
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 2676182	NM_001023570.4(IQCB1):c.151C>T (p.Gln51Ter)	IQCB1 (Q51*)	Single nucleotide variant (nonsense +1 more)	Senior-Loken syndrome 5	GLikely pathogenic
Select item 2676181	NM_001023570.4(IQCB1):c.781del (p.Leu260_Leu261insTer)	IQCB1	Deletion (nonsense +2 more)	Senior-Loken syndrome 5	GLikely pathogenic
Select item 2676180	NM_001023570.4(IQCB1):c.150_153del (p.Gln51fs)	IQCB1 (Q51fs)	Deletion (frameshift variant +1 more)	Senior-Loken syndrome 5	GLikely pathogenic
Select item 2676179	NM_001023570.4(IQCB1):c.481C>T (p.Gln161Ter)	IQCB1 (Q161*)	Single nucleotide variant (nonsense +1 more)	Senior-Loken syndrome 5	GLikely pathogenic
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 2676177	NM_001023570.4(IQCB1):c.628dup (p.Ile210fs)	IQCB1 (I210fs)	Duplication (frameshift variant +2 more)	Senior-Loken syndrome 5	GLikely pathogenic
Select item 2676176	NM_001023570.4(IQCB1):c.1051C>T (p.Gln351Ter)	IQCB1 (Q218* +1 more)	Single nucleotide variant (nonsense +1 more)	Senior-Loken syndrome 5	GLikely pathogenic
Select item 2676175	NM_001023570.4(IQCB1):c.577C>T (p.Gln193Ter)	IQCB1 (Q193*)	Single nucleotide variant (nonsense +1 more)	Senior-Loken syndrome 5	GLikely pathogenic
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 2676173	NM_001023570.4(IQCB1):c.488-2A>G	IQCB1	Single nucleotide variant (splice acceptor variant)	Senior-Loken syndrome 5	GLikely pathogenic
Select item 2676172	NM_001023570.4(IQCB1):c.1024C>T (p.Gln342Ter)	IQCB1 (Q209* +1 more)	Single nucleotide variant (nonsense +1 more)	Senior-Loken syndrome 5	GLikely pathogenic
Select item 2676171	NM_001023570.4(IQCB1):c.100+1G>A	IQCB1	Single nucleotide variant (splice donor variant)	Senior-Loken syndrome 5	GLikely pathogenic
Select item 2676170	NM_001023570.4(IQCB1):c.263+1G>T	IQCB1	Single nucleotide variant (splice donor variant)	Senior-Loken syndrome 5	GLikely pathogenic
Select item 2676169	NM_001023570.4(IQCB1):c.1045_1048delinsGGGGG (p.Lys349fs)	IQCB1 (K216fs +1 more)	Indel (frameshift variant +1 more)	Senior-Loken syndrome 5	GLikely pathogenic
Select item 2676168	NM_001023570.4(IQCB1):c.1056del (p.Leu352fs)	IQCB1 (L219fs +1 more)	Deletion (frameshift variant +1 more)	Senior-Loken syndrome 5	GLikely pathogenic
Select item 2574660	NM_001023570.4(IQCB1):c.1567+2_*2del	IQCB1	Deletion	Senior-Loken syndrome 5	GUncertain significance

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Items: 69