162514[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	ABR, ABR-AS1 +463 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	ABR, ABR-AS1 +498 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 154373	GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1	ABR, ABR-AS1 +303 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 146594	GRCh38/hg38 17p13.3-13.2(chr17:226472-3655099)x1	LOC130059869, LOC130059870 +243 more	Copy number loss	See cases	GPathogenic
Select item 153060	GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1	LOC130059930, LOC130059931 +352 more	Copy number loss	See cases	GPathogenic
Select item 148529	GRCh38/hg38 17p13.3-13.2(chr17:1348488-3513273)x3	LOC130059937, LOC130059938 +174 more	Copy number gain	See cases	GLikely pathogenic
Select item 144239	GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1	CAMKK1, CAMTA2 +303 more	Copy number loss	See cases	GPathogenic
Select item 150948	GRCh38/hg38 17p13.3-13.2(chr17:2062429-4141883)x3	ASPA, ATP2A3 +166 more	Copy number gain	See cases	GPathogenic
Select item 58677	GRCh38/hg38 17p13.3-13.2(chr17:2357067-4328426)x3	ANKFY1, ASPA +126 more	Copy number gain	See cases	GPathogenic
Select item 60099	GRCh38/hg38 17p13.3-13.2(chr17:3036729-3684667)x3	ASPA, CTNS +33 more	Copy number gain	See cases	GUncertain significance
Select item 148256	GRCh38/hg38 17p13.3-13.2(chr17:3102273-3667053)x3	ASPA, CTNS +28 more	Copy number gain	See cases	GUncertain significance
Select item 144439	GRCh38/hg38 17p13.3-13.2(chr17:3155468-3543868)x1	ASPA, LOC100288728 +12 more	Copy number loss	See cases	GBenign
Select item 155543	GRCh38/hg38 17p13.3-13.2(chr17:3168370-3852982)x3	ASPA, CTNS +47 more	Copy number gain	See cases	GLikely benign
Select item 153806	GRCh38/hg38 17p13.3-13.2(chr17:3168370-3862518)x3	ASPA, CAMKK1 +48 more	Copy number gain	See cases	GUncertain significance
Select item 154726	GRCh38/hg38 17p13.3-13.2(chr17:3187406-3880628)x3	ASPA, CAMKK1 +48 more	Copy number gain	See cases	GUncertain significance
Select item 583521	NC_000017.11:g.(?_3489235)_(3729555_?)del	EMC6, HASPIN +27 more	Deletion	not provided	GUncertain significance
Select item 150930	GRCh38/hg38 17p13.2(chr17:3494418-3727880)x1	ASPA, CTNS +27 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 892078	NM_145068.3(TRPV3):c.*3428A>T	SPATA22, TRPV3	Single nucleotide variant (intron variant)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 322672	NM_145068.4(TRPV3):c.*3340C>G	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 322673	NM_145068.4(TRPV3):c.*3302TG[5]	SPATA22, TRPV3	Microsatellite (3 prime UTR variant +1 more)	Olmsted syndrome 1	GUncertain significance
Select item 322674	NM_145068.4(TRPV3):c.*3307G>A	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GBenign
Select item 322675	NM_145068.4(TRPV3):c.*3295G>C	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 892079	NM_145068.4(TRPV3):c.*3258G>A	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GBenign
Select item 322676	NM_145068.4(TRPV3):c.*3255G>A	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GBenign
Select item 322677	NM_145068.4(TRPV3):c.*3196T>C	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GBenign
Select item 888619	NM_145068.4(TRPV3):c.*3155G>A	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GBenign
Select item 322678	NM_145068.4(TRPV3):c.*3154C>T	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma +1 more	GBenign
Select item 322679	NM_145068.4(TRPV3):c.*3149T>C	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GBenign
Select item 322680	NM_145068.4(TRPV3):c.*3148G>A	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 888620	NM_145068.4(TRPV3):c.*3114C>A	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 322681	NM_145068.4(TRPV3):c.*3076A>C	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma +1 more	GBenign
Select item 322682	NM_145068.4(TRPV3):c.*3051A>G	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma +1 more	GBenign
Select item 322683	NM_145068.4(TRPV3):c.*3045G>T	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 322684	NM_145068.4(TRPV3):c.*2895C>G	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 322685	NM_145068.4(TRPV3):c.*2808C>T	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 890321	NM_145068.4(TRPV3):c.*2784G>T	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 322686	NM_145068.4(TRPV3):c.*2783G>A	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GBenign
Select item 890322	NM_145068.4(TRPV3):c.*2760A>C	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GBenign
Select item 890323	NM_145068.4(TRPV3):c.*2757C>T	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 322687	NM_145068.4(TRPV3):c.*2729A>G	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma +1 more	GBenign
Select item 890324	NM_145068.4(TRPV3):c.*2702A>G	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 322688	NM_145068.4(TRPV3):c.*2671C>T	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 322689	NM_145068.4(TRPV3):c.*2622G>T	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 322690	NM_145068.4(TRPV3):c.*2611G>A	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GBenign
Select item 890879	NM_145068.4(TRPV3):c.*2610C>T	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GBenign
Select item 890880	NM_145068.4(TRPV3):c.*2604G>A	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GBenign
Select item 322691	NM_145068.4(TRPV3):c.*2490T>C	TRPV3, SPATA22	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 890881	NM_145068.4(TRPV3):c.*2485G>A	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GBenign
Select item 890882	NM_145068.4(TRPV3):c.*2477T>G	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GBenign
Select item 322692	NM_145068.4(TRPV3):c.*2437A>G	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma +1 more	GBenign
Select item 892122	NM_145068.4(TRPV3):c.*2432C>T	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 892123	NM_145068.4(TRPV3):c.*2391C>T	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 322693	NM_145068.4(TRPV3):c.*2365T>C	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 322694	NM_145068.4(TRPV3):c.*2352G>A	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma +1 more	GBenign
Select item 322695	NM_145068.4(TRPV3):c.*2296T>C	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 322696	NM_145068.4(TRPV3):c.*2272T>C	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma +1 more	GBenign
Select item 322697	NM_145068.4(TRPV3):c.*2169C>A	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GBenign
Select item 322698	NM_145068.4(TRPV3):c.*2153A>G	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GBenign
Select item 322699	NM_145068.4(TRPV3):c.*2115G>A	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma +1 more	GBenign
Select item 322700	NM_145068.4(TRPV3):c.*2094G>A	TRPV3, SPATA22	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GBenign
Select item 322701	NM_145068.4(TRPV3):c.*2093C>T	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma +1 more	GBenign
Select item 322702	NM_145068.4(TRPV3):c.*2087T>G	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GBenign
Select item 322703	NM_145068.4(TRPV3):c.*2072A>C	TRPV3, SPATA22	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GBenign
Select item 322704	NM_145068.4(TRPV3):c.*2068A>G	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GBenign
Select item 890380	NM_145068.4(TRPV3):c.*2054A>C	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 322705	NM_145068.4(TRPV3):c.*2054A>T	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 322706	NM_145068.4(TRPV3):c.*2019A>G	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 322707	NM_145068.4(TRPV3):c.*2014A>T	TRPV3, SPATA22	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GBenign
Select item 890381	NM_145068.4(TRPV3):c.*1968A>G	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 890936	NM_145068.4(TRPV3):c.*1950C>T	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GBenign
Select item 322708	NM_145068.4(TRPV3):c.*1940T>G	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Olmsted syndrome 1	GUncertain significance
Select item 890937	NM_145068.4(TRPV3):c.*1843C>T	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 322709	NM_145068.4(TRPV3):c.*1841C>A	TRPV3, SPATA22	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma +1 more	GBenign
Select item 322710	NM_145068.4(TRPV3):c.*1790G>C	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma +1 more	GBenign
Select item 890938	NM_145068.4(TRPV3):c.*1767T>C	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 322711	NM_145068.4(TRPV3):c.*1669G>A	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 322712	NM_145068.4(TRPV3):c.*1625C>G	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 322713	NM_145068.4(TRPV3):c.*1621del	SPATA22, TRPV3	Deletion (3 prime UTR variant +1 more)	Olmsted syndrome 1	GLikely benign
Select item 322714	NM_145068.4(TRPV3):c.1591_1592insC	SPATA22, TRPV3	Insertion (3 prime UTR variant +1 more)	Olmsted syndrome 1 +1 more	GUncertain significance
Select item 322716	NM_145068.4(TRPV3):c.*1591G>C	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 322715	NM_145068.4(TRPV3):c.*1591del	TRPV3, SPATA22	Deletion (3 prime UTR variant +1 more)	Olmsted syndrome 1	GBenign
Select item 322718	NM_145068.4(TRPV3):c.*1590T>C	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma +1 more	GBenign
Select item 322717	NM_145068.4(TRPV3):c.*1590del	SPATA22, TRPV3	Deletion (3 prime UTR variant +1 more)	Olmsted syndrome 1	GUncertain significance
Select item 322719	NM_145068.4(TRPV3):c.*1565T>C	TRPV3, SPATA22	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma +1 more	GBenign
Select item 322720	NM_145068.4(TRPV3):c.*1533A>C	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma +1 more	GBenign
Select item 892171	NM_145068.4(TRPV3):c.*1500C>T	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 322721	NM_145068.4(TRPV3):c.*1485G>A	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GBenign
Select item 322722	NM_145068.4(TRPV3):c.*1424G>A	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GBenign
Select item 892172	NM_145068.4(TRPV3):c.*1380T>C	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 888728	NM_145068.4(TRPV3):c.*1328C>A	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 888729	NM_145068.4(TRPV3):c.*1280G>A	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 888730	NM_145068.4(TRPV3):c.*1272C>T	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 322723	NM_145068.4(TRPV3):c.*1229G>C	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma +1 more	GBenign
Select item 322724	NM_145068.4(TRPV3):c.*1218G>A	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance

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