ClinVar for Gene (Select 254122) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3321324	NM_152760.3(SNX32):c.980C>T (p.Ala327Val)	LOC130006070, SNX32 (A327V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321323	NM_152760.3(SNX32):c.212A>G (p.His71Arg)	SNX32 (H71R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167307	NM_152760.3(SNX32):c.832G>A (p.Glu278Lys)	SNX32 (E278K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167306	NM_152760.3(SNX32):c.755T>G (p.Leu252Arg)	SNX32 (L252R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167305	NM_152760.3(SNX32):c.659G>A (p.Arg220His)	LOC124500673, SNX32 (R220H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167304	NM_152760.3(SNX32):c.590T>C (p.Met197Thr)	LOC130006069, SNX32 (M197T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167303	NM_152760.3(SNX32):c.587G>A (p.Gly196Asp)	LOC130006069, SNX32 (G196D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167302	NM_152760.3(SNX32):c.539G>A (p.Gly180Glu)	LOC130006069, SNX32 (G180E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167301	NM_152760.3(SNX32):c.509G>A (p.Arg170Gln)	SNX32 (R170Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167300	NM_152760.3(SNX32):c.415G>A (p.Glu139Lys)	SNX32 (E139K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167299	NM_152760.3(SNX32):c.146G>A (p.Cys49Tyr)	SNX32 (C49Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167297	NM_152760.3(SNX32):c.1130T>C (p.Leu377Pro)	SNX32 (L377P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167296	NM_152760.3(SNX32):c.1124T>C (p.Ile375Thr)	SNX32 (I375T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167295	NM_152760.3(SNX32):c.1091C>A (p.Ser364Tyr)	SNX32 (S364Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167294	NM_152760.3(SNX32):c.104G>C (p.Ser35Thr)	SNX32 (S35T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167293	NM_152760.3(SNX32):c.1049G>A (p.Arg350His)	LOC130006070, SNX32 (R350H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2602039	NM_152760.3(SNX32):c.1177C>T (p.Arg393Trp)	SNX32 (R393W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594308	NM_152760.3(SNX32):c.967G>A (p.Ala323Thr)	LOC130006070, SNX32 (A323T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568758	NM_152760.3(SNX32):c.1063G>A (p.Ala355Thr)	LOC130006070, SNX32 (A355T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553800	NM_152760.3(SNX32):c.821T>C (p.Leu274Pro)	SNX32 (L274P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544802	NM_152760.3(SNX32):c.931C>G (p.Leu311Val)	LOC130006070, SNX32 (L311V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544336	NM_152760.3(SNX32):c.400A>G (p.Thr134Ala)	SNX32 (T134A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521754	NM_152760.3(SNX32):c.458G>A (p.Arg153Gln)	SNX32 (R153Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2517076	NM_152760.3(SNX32):c.584C>T (p.Thr195Met)	LOC130006069, SNX32 (T195M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485423	NM_152760.3(SNX32):c.410T>C (p.Met137Thr)	SNX32 (M137T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484274	NM_152760.3(SNX32):c.598C>A (p.Leu200Ile)	LOC130006069, SNX32 (L200I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481338	NM_152760.3(SNX32):c.774C>A (p.Asn258Lys)	SNX32 (N258K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462899	NM_152760.3(SNX32):c.925C>T (p.Arg309Trp)	LOC130006070, SNX32 (R309W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426697	NC_000011.9:g.(?_65325080)_(65639825_?)del	AP5B1, CFL1 +15 more	Deletion	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 2409152	NM_152760.3(SNX32):c.1048C>T (p.Arg350Cys)	LOC130006070, SNX32 (R350C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403802	NM_152760.3(SNX32):c.1112G>T (p.Arg371Leu)	SNX32 (R371L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393324	NM_152760.3(SNX32):c.995G>A (p.Arg332Gln)	LOC130006070, SNX32 (R332Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377545	NM_152760.3(SNX32):c.1178G>A (p.Arg393Gln)	SNX32 (R393Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364118	NM_152760.3(SNX32):c.445C>T (p.Pro149Ser)	SNX32 (P149S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339235	NM_152760.3(SNX32):c.893G>A (p.Arg298His)	SNX32 (R298H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321707	NM_152760.3(SNX32):c.646G>A (p.Glu216Lys)	LOC124500673, SNX32 (E216K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305827	NM_152760.3(SNX32):c.968C>T (p.Ala323Val)	LOC130006070, SNX32 (A323V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299801	NM_152760.3(SNX32):c.343G>A (p.Glu115Lys)	SNX32 (E115K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272692	NM_152760.3(SNX32):c.223G>A (p.Val75Met)	SNX32 (V75M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251653	NM_152760.3(SNX32):c.338G>C (p.Arg113Pro)	SNX32 (R113P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235037	NM_152760.3(SNX32):c.1139T>C (p.Leu380Pro)	SNX32 (L380P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222941	NM_152760.3(SNX32):c.1009G>A (p.Ala337Thr)	LOC130006070, SNX32 (A337T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220501	NM_152760.3(SNX32):c.934C>T (p.Arg312Trp)	LOC130006070, SNX32 (R312W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214440	NM_152760.3(SNX32):c.635C>T (p.Thr212Ile)	LOC124500673, SNX32 (T212I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527644	GRCh37/hg19 11q13.1-13.2(chr11:64935724-66405514)	ACTN3, AP5B1 +63 more	Copy number loss	not specified	GUncertain significance
Select item 1449359	NC_000011.9:g.(?_64522783)_(66283694_?)del	AP5B1, ARL2 +81 more	Deletion	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 685329	GRCh37/hg19 11q13.1(chr11:65529506-65649002)x3	AP5B1, CFL1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 625593	GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402)	ACTN3, ACY3 +94 more	Copy number gain	not provided	GPathogenic
Select item 443398	GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3	ACTN3, ANKRD13D +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	GAL3ST3, GPR152 +282 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 57