SNX19[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	LOC130006930, LOC130006931 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	ABCG4, ACRV1 +774 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	MPZL3, MSANTD2 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	LOC129390375, LOC129390376 +764 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	POU2F3, PRDM10 +764 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	ABCG4, ACAD8 +763 more	Copy number gain	See cases	GPathogenic
Select item 57503	GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3	ABCG4, ACAD8 +635 more	Copy number gain	See cases	GPathogenic
Select item 545140	Single allele	LOC130007028, LOC130007029 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 150032	GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1	ACAD8, ACRV1 +551 more	Copy number loss	See cases	GPathogenic
Select item 57238	GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1	ACAD8, ACRV1 +549 more	Copy number loss	See cases	GPathogenic
Select item 59777	GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3	OR8G5, PANX3 +519 more	Copy number gain	See cases	GPathogenic
Select item 58924	GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1	LOC129390377, LOC129390378 +488 more	Copy number loss	See cases	GPathogenic
Select item 149328	GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1	ACAD8, ACRV1 +497 more	Copy number loss	See cases	GPathogenic
Select item 154016	GRCh38/hg38 11q24.1-25(chr11:121611476-135068576)x1	ACAD8, ACRV1 +444 more	Copy number loss	See cases	GPathogenic
Select item 150820	GRCh38/hg38 11q24.1-25(chr11:121689052-135075271)x1	ACAD8, ACRV1 +442 more	Copy number loss	See cases	GPathogenic
Select item 148952	GRCh38/hg38 11q24.1-25(chr11:121780459-135075271)x1	LOC130007011, LOC130007012 +440 more	Copy number loss	See cases	GPathogenic
Select item 154045	GRCh38/hg38 11q24.1-25(chr11:121806547-135068576)x1	ACAD8, ACRV1 +439 more	Copy number loss	See cases	GPathogenic
Select item 145308	GRCh38/hg38 11q24.1-25(chr11:123799938-134998526)x1	ST14, ST3GAL4 +368 more	Copy number loss	See cases	GPathogenic
Select item 149547	GRCh38/hg38 11q24.1-25(chr11:123963074-135075271)x1	LOC130007071, LOC130007072 +363 more	Copy number loss	See cases	GPathogenic
Select item 57206	GRCh38/hg38 11q24.2-25(chr11:124155723-134998513)x1	ACAD8, ACRV1 +353 more	Copy number loss	See cases	GPathogenic
Select item 145337	GRCh38/hg38 11q24.2-25(chr11:124205225-134998526)x1	LOC112061823, LOC112067710 +352 more	Copy number loss	See cases	GPathogenic
Select item 151164	GRCh38/hg38 11q24.2-25(chr11:124315025-134818116)x1	TMEM218, TMEM45B +343 more	Copy number loss	See cases	GPathogenic
Select item 149702	GRCh38/hg38 11q24.2-25(chr11:124940059-135075271)x1	LOC130007029, LOC130007030 +312 more	Copy number loss	See cases	GPathogenic
Select item 147420	GRCh38/hg38 11q24.2-25(chr11:125241472-134998513)x1	ACAD8, ACRV1 +299 more	Copy number loss	See cases	GPathogenic
Select item 149105	GRCh38/hg38 11q24.2-25(chr11:126046358-135075271)x1	FOXRED1, GLB1L2 +266 more	Copy number loss	See cases	GPathogenic
Select item 147401	GRCh38/hg38 11q24.2-25(chr11:126046358-134998513)x1	ACAD8, ADAMTS15 +265 more	Copy number loss	See cases	GPathogenic
Select item 150232	GRCh38/hg38 11q24.2-25(chr11:126199589-135075271)x1	LOC121392949, LOC121392950 +261 more	Copy number loss	See cases	GPathogenic
Select item 58948	GRCh38/hg38 11q24.2-25(chr11:126433740-135040246)x1	ACAD8, ADAMTS15 +239 more	Copy number loss	See cases	GPathogenic
Select item 57456	GRCh38/hg38 11q24.2-25(chr11:126445805-134998513)x3	ACAD8, ADAMTS15 +239 more	Copy number gain	See cases	GPathogenic
Select item 148651	GRCh38/hg38 11q24.2-25(chr11:127564482-135075271)x1	ACAD8, ADAMTS15 +222 more	Copy number loss	See cases	GPathogenic
Select item 57189	GRCh38/hg38 11q24.2-25(chr11:127604660-134998454)x1	ACAD8, ADAMTS15 +221 more	Copy number loss	See cases	GPathogenic
Select item 155688	GRCh38/hg38 11q24.3-25(chr11:127915964-135068576)x1	ACAD8, ADAMTS15 +220 more	Copy number loss	See cases	GPathogenic
Select item 150923	GRCh38/hg38 11q24.3-25(chr11:128867946-133086998)x1	ADAMTS15, ADAMTS8 +99 more	Copy number loss	See cases	GLikely pathogenic
Select item 58949	GRCh38/hg38 11q24.3-25(chr11:129700536-134998513)x1	ACAD8, ADAMTS15 +145 more	Copy number loss	See cases	GPathogenic
Select item 58950	GRCh38/hg38 11q24.3-25(chr11:130060292-135040246)x1	ACAD8, ADAMTS15 +123 more	Copy number loss	See cases	GPathogenic
Select item 155222	GRCh38/hg38 11q24.3-25(chr11:130457291-133168833)x3	ADAMTS15, LINC02551 +43 more	Copy number gain	See cases	GUncertain significance
Select item 154559	GRCh38/hg38 11q24.3-25(chr11:130706504-135075271)x1	ACAD8, B3GAT1 +99 more	Copy number loss	See cases	GPathogenic
Select item 154157	GRCh38/hg38 11q24.3-25(chr11:130763378-131409419)x3	LINC02551, LOC126861392 +9 more	Copy number gain	See cases	GUncertain significance
Select item 2642548	NM_014758.3(SNX19):c.2973C>G (p.Ser991=)	SNX19	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2378794	NM_014758.3(SNX19):c.2875A>G (p.Ile959Val)	SNX19 (I339V +9 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2330187	NM_014758.3(SNX19):c.2847G>T (p.Arg949Ser)	SNX19 (R189S +9 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2213139	NM_014758.3(SNX19):c.2794C>T (p.Arg932Trp)	SNX19 (P250L +9 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 784522	NM_014758.3(SNX19):c.2683C>T (p.Arg895Trp)	SNX19 (R217W +7 more)	Single nucleotide variant (missense variant +3 more)	not provided	GBenign
Select item 2225582	NM_014758.3(SNX19):c.2660G>A (p.Gly887Asp)	SNX19 (G209D +7 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2231057	NM_014758.3(SNX19):c.2566G>A (p.Val856Ile)	SNX19 (V178I +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 794613	NM_014758.3(SNX19):c.2523C>T (p.Thr841=)	SNX19	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 788365	NM_014758.3(SNX19):c.2482C>G (p.Leu828Val)	SNX19 (L788V +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2369295	NM_014758.3(SNX19):c.2462C>T (p.Ala821Val)	SNX19 (A246V +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 786927	NM_014758.3(SNX19):c.2444G>C (p.Gly815Ala)	SNX19 (G155A +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2279410	NM_014758.3(SNX19):c.2437G>A (p.Asp813Asn)	SNX19 (D135N +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2291968	NM_014758.3(SNX19):c.2381G>A (p.Arg794His)	SNX19 (R116H +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2247069	NM_014758.3(SNX19):c.2255G>A (p.Gly752Asp)	SNX19 (G752D +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2623732	NM_014758.3(SNX19):c.1940C>T (p.Ala647Val)	SNX19 (A27V +3 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2479173	NM_014758.3(SNX19):c.1933G>A (p.Glu645Lys)	SNX19 (E645K +3 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2529163	NM_014758.3(SNX19):c.1915C>A (p.Gln639Lys)	SNX19 (Q639K +3 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2489835	NM_014758.3(SNX19):c.1778T>C (p.Leu593Pro)	SNX19 (L593P +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2303995	NM_014758.3(SNX19):c.1775G>A (p.Arg592His)	SNX19 (R592H +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2326838	NM_014758.3(SNX19):c.1751G>A (p.Arg584Gln)	SNX19 (R27Q +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2386842	NM_014758.3(SNX19):c.1693G>A (p.Gly565Ser)	SNX19 (G565S +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GLikely benign
Select item 2521155	NM_014758.3(SNX19):c.1687C>T (p.Leu563Phe)	SNX19 (L6F +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2341660	NM_014758.3(SNX19):c.1601G>A (p.Arg534His)	SNX19 (R534H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2523547	NM_014758.3(SNX19):c.1546T>C (p.Phe516Leu)	SNX19 (F516L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2611247	NM_014758.3(SNX19):c.1388C>T (p.Ala463Val)	SNX19 (A463V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2387544	NM_014758.3(SNX19):c.1387G>C (p.Ala463Pro)	SNX19 (A463P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2269436	NM_014758.3(SNX19):c.1346T>C (p.Ile449Thr)	SNX19 (I449T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2219192	NM_014758.3(SNX19):c.1316C>T (p.Ser439Phe)	SNX19 (S439F)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2382298	NM_014758.3(SNX19):c.1282C>T (p.Pro428Ser)	SNX19 (P428S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2315143	NM_014758.3(SNX19):c.1271C>A (p.Ala424Asp)	SNX19 (A424D)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2382452	NM_014758.3(SNX19):c.1250A>C (p.Glu417Ala)	SNX19 (E417A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2378034	NM_014758.3(SNX19):c.1127C>T (p.Pro376Leu)	SNX19 (P376L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2412345	NM_014758.3(SNX19):c.1122G>T (p.Glu374Asp)	SNX19 (E374D)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2369355	NM_014758.3(SNX19):c.1111T>C (p.Ser371Pro)	SNX19 (S371P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2454973	NM_014758.3(SNX19):c.1000G>A (p.Glu334Lys)	SNX19 (E334K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2285777	NM_014758.3(SNX19):c.1000G>C (p.Glu334Gln)	SNX19 (E334Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 720700	NM_014758.3(SNX19):c.949A>G (p.Ser317Gly)	SNX19 (S317G)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 96985	NM_014758.3(SNX19):c.842C>T (p.Ala281Val)	SNX19 (A281V)	Single nucleotide variant (missense variant +2 more)	not provided	Gnot provided
Select item 2353437	NM_014758.3(SNX19):c.772G>T (p.Asp258Tyr)	SNX19 (D258Y)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2615710	NM_014758.3(SNX19):c.721C>G (p.Leu241Val)	SNX19 (L241V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2457116	NM_014758.3(SNX19):c.712G>C (p.Val238Leu)	SNX19 (V238L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2543690	NM_014758.3(SNX19):c.548T>G (p.Val183Gly)	SNX19 (V183G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2595244	NM_014758.3(SNX19):c.287G>A (p.Arg96Lys)	SNX19 (R96K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2396892	NM_014758.3(SNX19):c.274C>T (p.Pro92Ser)	SNX19 (P92S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2277929	NM_014758.3(SNX19):c.265C>T (p.Pro89Ser)	SNX19 (P89S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2521298	NM_014758.3(SNX19):c.257C>T (p.Ala86Val)	SNX19 (A86V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2619210	NM_014758.3(SNX19):c.151C>G (p.Leu51Val)	SNX19 (L51V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2312261	NM_014758.3(SNX19):c.56A>G (p.His19Arg)	SNX19 (H19R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 752247	NM_014758.3(SNX19):c.39A>C (p.Pro13=)	SNX19	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2248850	NM_014758.3(SNX19):c.23C>T (p.Pro8Leu)	SNX19 (P8L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 760749	NM_014758.3(SNX19):c.15A>G (p.Thr5=)	SNX19	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3063218	GRCh37/hg19 11q24.1-25(chr11:123523103-134938470)x1	ACAD8, ACRV1 +92 more	Copy number loss	not specified	GPathogenic
Select item 3063194	GRCh37/hg19 11q24.1-25(chr11:121423232-134938470)x1	ACAD8, ACRV1 +104 more	Copy number loss	not specified	GPathogenic
Select item 3063192	GRCh37/hg19 11q24.2-25(chr11:125511834-134938470)x1	ACAD8, ACRV1 +49 more	Copy number loss	not specified	GPathogenic
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2506544	GRCh37/hg19 11q23.3-25(chr11:120531028-134257553)	JHY, RPUSD4 +107 more	Copy number loss	11q partial monosomy syndrome	GPathogenic
Select item 1808652	GRCh37/hg19 11q24.1-25(chr11:122975824-134938470)x1	ACAD8, ACRV1 +94 more	Copy number loss	not provided	GPathogenic
Select item 1707620	GRCh37/hg19 11q24.2-25(chr11:127075189-134945120)x1	TP53AIP1, VPS26B +30 more	Copy number loss	Syndromic anorectal malformation	GLikely pathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1703539	GRCh37/hg19 11q24.3-25(chr11:130173156-134938470)	ACAD8, ADAMTS15 +17 more	Copy number gain	Seizure	GLikely pathogenic
Select item 1694653	GRCh37/hg19 11q24.3-25(chr11:128634685-134257741)x1	ACAD8, ADAMTS15 +28 more	Copy number loss	not provided	GPathogenic

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