Related gene-specific medical variations for Gene (Select 440073) - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3110702	NM_001170738.2(IQSEC3):c.3059C>T (p.Pro1020Leu)	IQSEC3, IQSEC3-AS1 (P717L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110701	NM_001170738.2(IQSEC3):c.2996C>G (p.Thr999Arg)	IQSEC3, IQSEC3-AS1 (T999R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110698	NM_001170738.2(IQSEC3):c.2141G>A (p.Arg714His)	IQSEC3, LOC574538 (R411H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110697	NM_001170738.2(IQSEC3):c.2029G>A (p.Gly677Ser)	IQSEC3, LOC574538 (G374S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110695	NM_001170738.2(IQSEC3):c.1832C>T (p.Ser611Leu)	IQSEC3, LOC574538 (S611L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110694	NM_001170738.2(IQSEC3):c.1763A>G (p.Glu588Gly)	IQSEC3, LOC574538 (E285G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110693	NM_001170738.2(IQSEC3):c.1709A>G (p.Lys570Arg)	IQSEC3, LOC574538 (K267R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110692	NM_001170738.2(IQSEC3):c.1610C>T (p.Ala537Val)	IQSEC3, LOC574538 (A537V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110691	NM_001170738.2(IQSEC3):c.1409C>T (p.Thr470Ile)	IQSEC3, LOC574538 (T470I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110690	NM_001170738.2(IQSEC3):c.1375G>A (p.Ala459Thr)	IQSEC3, LOC574538 (A459T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110689	NM_001170738.2(IQSEC3):c.1275G>T (p.Met425Ile)	IQSEC3, LOC574538 (M425I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110688	NM_001170738.2(IQSEC3):c.1178G>T (p.Gly393Val)	IQSEC3, LOC574538 (G393V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110686	NM_001170738.2(IQSEC3):c.1118G>T (p.Gly373Val)	IQSEC3, LOC574538 (G70V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110685	NM_001170738.2(IQSEC3):c.1089C>G (p.Ser363Arg)	IQSEC3, LOC574538 (S60R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3056513	NM_001170738.2(IQSEC3):c.1992-5T>A	IQSEC3, LOC574538	Single nucleotide variant (non-coding transcript variant +1 more)	IQSEC3-related disorder	GLikely benign
Select item 3043084	NM_001170738.2(IQSEC3):c.3114+141C>T	IQSEC3, IQSEC3-AS1 (T754I)	Single nucleotide variant (missense variant +1 more)	IQSEC3-related disorder	GLikely benign
Select item 3025702	NM_001170738.2(IQSEC3):c.1317C>A (p.Ala439=)	IQSEC3, LOC574538	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642559	NM_001170738.2(IQSEC3):c.3402G>T (p.Leu1134=)	IQSEC3, IQSEC3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642558	NM_001170738.2(IQSEC3):c.3078C>T (p.Ala1026=)	IQSEC3, IQSEC3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2527085	NM_001170738.2(IQSEC3):c.2891C>T (p.Ser964Leu)	IQSEC3, IQSEC3-AS1 (S661L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2524056	NM_001170738.2(IQSEC3):c.1153C>T (p.Pro385Ser)	IQSEC3, LOC574538 (P385S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521011	NM_001170738.2(IQSEC3):c.1376C>T (p.Ala459Val)	IQSEC3, LOC574538 (A156V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516950	NM_001170738.2(IQSEC3):c.1712C>T (p.Thr571Ile)	IQSEC3, LOC574538 (T268I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512519	NM_001170738.2(IQSEC3):c.1810A>G (p.Thr604Ala)	IQSEC3, LOC574538 (T301A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493214	NM_001170738.2(IQSEC3):c.1574G>A (p.Gly525Asp)	IQSEC3, LOC574538 (G222D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485251	NM_001170738.2(IQSEC3):c.1868A>T (p.Gln623Leu)	IQSEC3, LOC574538 (Q320L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480958	NM_001170738.2(IQSEC3):c.1132G>C (p.Gly378Arg)	IQSEC3, LOC574538 (G75R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473359	NM_001170738.2(IQSEC3):c.1054T>A (p.Ser352Thr)	IQSEC3, LOC574538 (S352T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469061	NM_001170738.2(IQSEC3):c.1334G>A (p.Gly445Glu)	IQSEC3, LOC574538 (G445E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465172	NM_001170738.2(IQSEC3):c.1892G>C (p.Arg631Pro)	IQSEC3, LOC574538 (R631P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461214	NM_001170738.2(IQSEC3):c.1754G>T (p.Arg585Ile)	IQSEC3, LOC574538 (R585I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397541	NM_001170738.2(IQSEC3):c.1850C>T (p.Ala617Val)	IQSEC3, LOC574538 (A314V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391595	NM_001170738.2(IQSEC3):c.2140C>T (p.Arg714Cys)	IQSEC3, LOC574538 (R411C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364681	NM_001170738.2(IQSEC3):c.1288G>A (p.Glu430Lys)	IQSEC3, LOC574538 (E127K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356174	NM_001170738.2(IQSEC3):c.947G>A (p.Arg316Gln)	IQSEC3, LOC574538 (R13Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350162	NM_001170738.2(IQSEC3):c.2026C>T (p.Arg676Cys)	IQSEC3, LOC574538 (R373C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345455	NM_001170738.2(IQSEC3):c.3518G>A (p.Arg1173His)	IQSEC3, IQSEC3-AS1 (R1173H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339610	NM_001170738.2(IQSEC3):c.1527C>G (p.Asn509Lys)	IQSEC3, LOC574538 (N509K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333805	NM_001170738.2(IQSEC3):c.1457G>A (p.Arg486Gln)	IQSEC3, LOC574538 (R486Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276114	NM_001170738.2(IQSEC3):c.1849G>A (p.Ala617Thr)	IQSEC3, LOC574538 (A617T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240028	NM_001170738.2(IQSEC3):c.3107C>T (p.Thr1036Met)	IQSEC3, IQSEC3-AS1 (T1036M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226693	NM_001170738.2(IQSEC3):c.2068C>T (p.Leu690Phe)	IQSEC3, LOC574538 (L690F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213752	NM_001170738.2(IQSEC3):c.3022G>A (p.Gly1008Arg)	IQSEC3, IQSEC3-AS1 (G705R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207791	NM_001170738.2(IQSEC3):c.1192C>A (p.Leu398Met)	IQSEC3, LOC574538 (L398M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1247673	NM_001170738.2(IQSEC3):c.2971+9A>G	IQSEC3, IQSEC3-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 785895	NM_001170738.2(IQSEC3):c.1061G>A (p.Arg354His)	IQSEC3, LOC574538 (R354H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 774702	NM_001170738.2(IQSEC3):c.2809+13_2809+32dup	IQSEC3, IQSEC3-AS1	Duplication (splice donor variant)	not provided	GBenign
Select item 718779	NM_001170738.2(IQSEC3):c.1381C>T (p.Pro461Ser)	IQSEC3, LOC574538 (P461S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 717712	NM_001170738.2(IQSEC3):c.1107G>A (p.Ala369=)	IQSEC3, LOC574538	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 692310	NM_001170738.2(IQSEC3):c.3546G>A (p.Val1182=)	IQSEC3, IQSEC3-AS1	Single nucleotide variant (synonymous variant)	Arthrogryposis multiplex congenita +1 more	GUncertain significance
Select item 692309	NM_001170738.2(IQSEC3):c.1058T>C (p.Leu353Pro)	LOC574538, IQSEC3 (L353P +1 more)	Single nucleotide variant (missense variant +1 more)	Arthrogryposis multiplex congenita +1 more	GUncertain significance
Select item 395411	GRCh37/hg19 12p13.33(chr12:148034-176816)x3	IQSEC3	Copy number gain	See cases	GBenign/Likely benign
Select item 395372	GRCh37/hg19 12p13.33(chr12:91682-176861)x3	IQSEC3	Copy number gain	See cases	GBenign
Select item 395211	GRCh37/hg19 12p13.33(chr12:91682-176816)x3	IQSEC3	Copy number gain	See cases	GLikely benign

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Links from Gene

Items: 54