ClinVar for Gene (Select 6642) - ClinVar

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

Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3167129	NM_003099.5(SNX1):c.937C>G (p.Leu313Val)	SNX1 (L248V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167127	NM_003099.5(SNX1):c.337C>G (p.Leu113Val)	SNX1 (L113V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167126	NM_003099.5(SNX1):c.277A>G (p.Thr93Ala)	SNX1 (T93A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167125	NM_003099.5(SNX1):c.1370A>C (p.Glu457Ala)	SNX1 (E392A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167124	NM_003099.5(SNX1):c.1116G>T (p.Glu372Asp)	SNX1 (E307D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611542	NM_003099.5(SNX1):c.1439G>A (p.Arg480Gln)	SNX1 (R415Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605767	NM_003099.5(SNX1):c.1291C>T (p.Arg431Trp)	SNX1 (R366W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593304	NM_003099.5(SNX1):c.1082C>T (p.Thr361Met)	SNX1 (T361M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591204	NM_003099.5(SNX1):c.1220G>A (p.Arg407His)	SNX1 (R407H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539176	NM_003099.5(SNX1):c.280G>A (p.Val94Met)	SNX1 (V94M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533680	NM_003099.5(SNX1):c.88G>A (p.Gly30Arg)	SNX1 (G30R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493430	NM_003099.5(SNX1):c.1160A>C (p.Asn387Thr)	SNX1 (N322T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489511	NM_003099.5(SNX1):c.40C>G (p.Leu14Val)	LOC130057263, SNX1 (L14V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488098	NM_003099.5(SNX1):c.1475A>G (p.His492Arg)	SNX1 (H492R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486961	NM_003099.5(SNX1):c.1477G>A (p.Val493Met)	SNX1 (V493M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484349	NM_003099.5(SNX1):c.79G>A (p.Gly27Arg)	SNX1 (G27R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457235	NM_003099.5(SNX1):c.1292G>A (p.Arg431Gln)	SNX1 (R431Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456228	NM_003099.5(SNX1):c.92G>A (p.Gly31Glu)	SNX1 (G31E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424797	NC_000015.9:g.(?_62146656)_(64747263_?)del	APH1B, RPS27L +19 more	Deletion	not provided	GPathogenic
Select item 2383755	NM_003099.5(SNX1):c.388A>G (p.Thr130Ala)	SNX1 (T130A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364689	NM_003099.5(SNX1):c.142A>G (p.Thr48Ala)	SNX1 (T48A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360123	NM_003099.5(SNX1):c.1094G>A (p.Arg365Gln)	SNX1 (R300Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353376	NM_003099.5(SNX1):c.1256G>A (p.Arg419His)	SNX1 (R419H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336138	NM_003099.5(SNX1):c.853C>T (p.Leu285Phe)	SNX1 (L285F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332280	NM_003099.5(SNX1):c.253C>T (p.Pro85Ser)	SNX1 (P85S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321369	NM_003099.5(SNX1):c.440T>G (p.Val147Gly)	SNX1 (V147G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309819	NM_003099.5(SNX1):c.1538C>A (p.Ala513Asp)	SNX1 (A513D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292461	NM_003099.5(SNX1):c.617T>A (p.Phe206Tyr)	SNX1 (F141Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282889	NM_003099.5(SNX1):c.811C>A (p.Pro271Thr)	SNX1 (P271T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271670	NM_003099.5(SNX1):c.692C>A (p.Ser231Tyr)	SNX1 (S231Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268215	NM_003099.5(SNX1):c.685T>C (p.Ser229Pro)	SNX1 (S229P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266077	NM_003099.5(SNX1):c.457G>A (p.Glu153Lys)	SNX1 (E153K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258588	NM_003099.5(SNX1):c.1025T>G (p.Leu342Arg)	SNX1 (L342R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234293	NM_003099.5(SNX1):c.46C>T (p.Pro16Ser)	LOC130057263, SNX1 (P16S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ARPIN-AP3S2, COMMD4 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 560063	Single allele	ANKDD1A, APH1B +40 more	Deletion	Nemaline myopathy 6	GLikely pathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CSK, CSNK1G1 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	TRPM7, TSPAN3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	SLC24A1, SLC28A1 +310 more	Copy number gain	not provided	GLikely pathogenic
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057806, LOC130057807 +1763 more	Copy number gain	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: 43