ClinVar for Gene (Select 6642) - ClinVar

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Links from Gene

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3321253	NM_003099.5(SNX1):c.268G>A (p.Ala90Thr)	SNX1 (A90T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321252	NM_003099.5(SNX1):c.374C>T (p.Ser125Leu)	SNX1 (S125L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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, C2CD4A +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	CGNL1, MAPDA +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	PDIA3, PEAK1 +521 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)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

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Variation size

Variant length

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Additional filters

Links from Gene

Items: 45