24612[HGNC] - ClinVar

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Items: 73

	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 153060	GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1	LOC130059930, LOC130059931 +352 more	Copy number loss	See cases	GPathogenic
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 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 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	AIPL1, ALOX12 +290 more	Copy number loss	See cases	GPathogenic
Select item 151168	GRCh38/hg38 17p13.2(chr17:3782655-4472701)x3	ANKFY1, ATP2A3 +50 more	Copy number gain	See cases	GUncertain significance
Select item 3181813	NM_001114118.3(NCBP3):c.1834A>G (p.Ser612Gly)	NCBP3 (S612G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262684	NM_001114118.3(NCBP3):c.1687G>A (p.Val563Met)	NCBP3 (V563M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321005	NM_001114118.3(NCBP3):c.1622A>G (p.Lys541Arg)	NCBP3 (K541R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260397	NM_001114118.3(NCBP3):c.1612C>T (p.Arg538Trp)	NCBP3 (R538W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326940	NM_001114118.3(NCBP3):c.1502C>T (p.Pro501Leu)	NCBP3 (P501L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181794	NM_001114118.3(NCBP3):c.1454G>T (p.Ser485Ile)	NCBP3 (S485I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181789	NM_001114118.3(NCBP3):c.1421G>A (p.Arg474His)	NCBP3 (R474H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279055	NM_001114118.3(NCBP3):c.1374A>T (p.Leu458Phe)	NCBP3 (L458F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496182	NM_001114118.3(NCBP3):c.1340C>T (p.Ser447Leu)	NCBP3 (S447L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298750	NM_001114118.3(NCBP3):c.1271T>C (p.Met424Thr)	NCBP3 (M424T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181783	NM_001114118.3(NCBP3):c.1207G>A (p.Asp403Asn)	NCBP3 (D403N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280376	NM_001114118.3(NCBP3):c.1147C>T (p.Pro383Ser)	NCBP3 (P383S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3298749	NM_001114118.3(NCBP3):c.992G>A (p.Arg331Gln)	NCBP3 (R331Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181864	NM_001114118.3(NCBP3):c.980C>T (p.Ser327Leu)	NCBP3 (S327L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328462	NM_001114118.3(NCBP3):c.916C>T (p.Arg306Cys)	NCBP3 (R306C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280873	NM_001114118.3(NCBP3):c.848A>T (p.Tyr283Phe)	NCBP3 (Y283F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181846	NM_001114118.3(NCBP3):c.841A>G (p.Met281Val)	NCBP3 (M281V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181844	NM_001114118.3(NCBP3):c.700T>G (p.Ser234Ala)	NCBP3 (S234A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181837	NM_001114118.3(NCBP3):c.695C>T (p.Thr232Met)	NCBP3 (T232M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364780	NM_001114118.3(NCBP3):c.619G>A (p.Glu207Lys)	NCBP3 (E207K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250232	NM_001114118.3(NCBP3):c.578G>C (p.Ser193Thr)	NCBP3 (S193T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181819	NM_001114118.3(NCBP3):c.384C>G (p.Ile128Met)	NCBP3 (I128M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468442	NM_001114118.3(NCBP3):c.226A>G (p.Thr76Ala)	NCBP3 (T76A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470183	NM_001114118.3(NCBP3):c.180C>G (p.Ile60Met)	LOC130059992, NCBP3 (I60M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305942	NM_001114118.3(NCBP3):c.164C>T (p.Ser55Leu)	LOC130059992, NCBP3 (S55L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386632	NM_001114118.3(NCBP3):c.157C>T (p.Arg53Trp)	LOC130059992, NCBP3 (R53W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467804	NM_001114118.3(NCBP3):c.110C>T (p.Pro37Leu)	LOC130059992, NCBP3 (P37L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181858	NM_001114118.3(NCBP3):c.92G>C (p.Gly31Ala)	LOC130059992, NCBP3 (G31A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181833	NM_001114118.3(NCBP3):c.62T>C (p.Leu21Pro)	LOC130059992, NCBP3 (L21P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353116	NM_001114118.3(NCBP3):c.44C>T (p.Ala15Val)	LOC130059992, NCBP3 (A15V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473586	NM_001114118.3(NCBP3):c.38C>T (p.Ala13Val)	LOC130059992, NCBP3 (A13V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388128	NM_001114118.3(NCBP3):c.22C>T (p.Arg8Trp)	LOC130059992, NCBP3 (R8W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298748	NM_001114118.3(NCBP3):c.7G>A (p.Ala3Thr)	LOC130059992, NCBP3 (A3T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	not specified	GPathogenic
Select item 2671597	Single allele	ABR, ALOX15 +80 more	Deletion	not provided	GPathogenic
Select item 2422206	NC_000017.10:g.(?_3379454)_(3819519_?)del	ASPA, CAMKK1 +11 more	Deletion	Spongy degeneration of central nervous system	GPathogenic
Select item 1403973	NC_000017.10:g.(?_2541583)_(3819519_?)del	ASPA, CAMKK1 +26 more	Deletion	not provided	GPathogenic
Select item 1340632	GRCh37/hg19 17p13.2(chr17:3652068-3872306)x3	ATP2A3, CAMKK1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1180511	GRCh37/hg19 17p13.3-13.2(chr17:2313096-3735525)x1	OR1G1, OR3A1 +25 more	Copy number loss	not provided	GPathogenic
Select item 972966	GRCh37/hg19 17p13.2(chr17:3543270-4045261)x3	ATP2A3, HASPIN +9 more	Copy number gain	not provided	Gnot provided
Select item 816504	GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1	ABR, ALOX15 +115 more	Copy number loss	See cases	GPathogenic
Select item 625578	GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620)	ABR, ALOX15 +115 more	Copy number gain	Chromosome 17P13.3, telomeric, duplication syndrome	GPathogenic
Select item 564391	GRCh37/hg19 17p13.2(chr17:3737355-4266446)x3	CYB5D2, NCBP3 +6 more	Copy number gain	not provided	GUncertain significance
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 443023	GRCh37/hg19 17p13.3-13.2(chr17:525-3825428)x1	ABR, ASPA +68 more	Copy number loss	See cases	GPathogenic
Select item 442031	GRCh37/hg19 17p13.3-13.2(chr17:525-4151421)x3	ABR, ANKFY1 +72 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 441650	GRCh37/hg19 17p13.2(chr17:3543270-4045261)x3	ATP2A3, CAMKK1 +9 more	Copy number gain	See cases	GLikely benign
Select item 395716	GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486)	AIPL1, ALOX15 +115 more	Copy number gain	See cases	GPathogenic
Select item 394707	GRCh37/hg19 17p13.2(chr17:3552153-3719502)x3	CTNS, EMC6 +5 more	Copy number gain	See cases	GUncertain significance
Select item 253507	GRCh37/hg19 17p13.3-13.2(chr17:919381-4046915)x3	ABR, ASPA +60 more	Copy number gain	See cases	GPathogenic

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Items: 73