ClinVar for Gene (Select 388323) - ClinVar

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Links from Gene

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3281665	NM_001014985.3(GLTPD2):c.116C>T (p.Ser39Leu)	GLTPD2 (S75L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281664	NM_001014985.3(GLTPD2):c.142T>C (p.Cys48Arg)	GLTPD2 (C48R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281663	NM_001014985.3(GLTPD2):c.236G>A (p.Arg79Gln)	GLTPD2 (R79Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3281662	NM_001014985.3(GLTPD2):c.113G>T (p.Arg38Leu)	GLTPD2 (R74L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3281660	NM_001014985.3(GLTPD2):c.856G>T (p.Gly286Cys)	GLTPD2, LOC130060033 (G322C +1 more)	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 3100386	NM_001014985.3(GLTPD2):c.853C>G (p.Arg285Gly)	GLTPD2, LOC130060033 (R321G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100385	NM_001014985.3(GLTPD2):c.668G>C (p.Gly223Ala)	GLTPD2, LOC130060033 (G223A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3100384	NM_001014985.3(GLTPD2):c.642C>G (p.Cys214Trp)	GLTPD2, LOC130060033 (C214W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100383	NM_001014985.3(GLTPD2):c.595C>G (p.Arg199Gly)	GLTPD2, LOC130060033 (R199G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100382	NM_001014985.3(GLTPD2):c.541C>T (p.Arg181Cys)	GLTPD2, LOC130060033 (R181C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100381	NM_001014985.3(GLTPD2):c.506C>T (p.Ala169Val)	GLTPD2, LOC130060033 (A205V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100380	NM_001014985.3(GLTPD2):c.368C>T (p.Ala123Val)	GLTPD2, LOC130060033 (A159V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100379	NM_001014985.3(GLTPD2):c.242T>G (p.Met81Arg)	GLTPD2 (M117R +1 more)	Single nucleotide variant (missense variant)	not specified	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 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 2552229	NM_001014985.3(GLTPD2):c.659C>A (p.Ala220Glu)	GLTPD2, LOC130060033 (A220E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486842	NM_001014985.3(GLTPD2):c.154G>C (p.Glu52Gln)	GLTPD2 (E52Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484871	NM_001014985.3(GLTPD2):c.769G>C (p.Glu257Gln)	GLTPD2, LOC130060033 (E257Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2483853	NM_001014985.3(GLTPD2):c.17G>A (p.Arg6Gln)	GLTPD2 (R6Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466597	NM_001014985.3(GLTPD2):c.479G>A (p.Arg160Lys)	GLTPD2, LOC130060033 (R196K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459228	NM_001014985.3(GLTPD2):c.851A>G (p.Glu284Gly)	GLTPD2, LOC130060033 (E284G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403332	NM_001014985.3(GLTPD2):c.538T>C (p.Ser180Pro)	GLTPD2, LOC130060033 (S180P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373559	NM_001014985.3(GLTPD2):c.134C>T (p.Ala45Val)	GLTPD2 (A45V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371406	NM_001014985.3(GLTPD2):c.411G>T (p.Glu137Asp)	GLTPD2, LOC130060033 (E173D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356350	NM_001014985.3(GLTPD2):c.730C>T (p.Arg244Cys)	GLTPD2, LOC130060033 (R244C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345658	NM_001014985.3(GLTPD2):c.652T>A (p.Tyr218Asn)	GLTPD2, LOC130060033 (Y218N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338785	NM_001014985.3(GLTPD2):c.73C>G (p.Leu25Val)	GLTPD2 (L25V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277209	NM_001014985.3(GLTPD2):c.598G>A (p.Val200Met)	GLTPD2, LOC130060033 (V236M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251226	NM_001014985.3(GLTPD2):c.509C>T (p.Ala170Val)	GLTPD2, LOC130060033 (A170V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228235	NM_001014985.3(GLTPD2):c.243G>A (p.Met81Ile)	GLTPD2 (M81I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218895	NM_001014985.3(GLTPD2):c.560A>G (p.His187Arg)	GLTPD2, LOC130060033 (H187R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809320	GRCh37/hg19 17p13.2(chr17:4658216-5266343)x3	C17orf107, CAMTA2 +22 more	Copy number gain	not provided	GUncertain significance
Select item 1679759	Single allele	C17orf107, C17orf114 +68 more	Duplication	7p22.1 microduplication syndrome	GUncertain significance
Select item 1526561	GRCh37/hg19 17p13.2(chr17:4113551-5023913)	ALOX15, ANKFY1 +31 more	Copy number loss	not specified	GUncertain significance
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 688934	GRCh37/hg19 17p13.2(chr17:3759126-6128911)x1	ALOX15, ANKFY1 +48 more	Copy number loss	not provided	GUncertain significance
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 564394	GRCh37/hg19 17p13.2(chr17:4633847-4926646)x3	INCA1, SLC25A11 +18 more	Copy number gain	not provided	GUncertain significance
Select item 564393	GRCh37/hg19 17p13.2(chr17:4475016-4884701)x3	ARRB2, MINK1 +20 more	Copy number gain	not provided	GUncertain significance
Select item 564392	GRCh37/hg19 17p13.2(chr17:4036861-5174346)x3	CXCL16, SLC52A1 +36 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 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 441788	GRCh37/hg19 17p13.2(chr17:4633847-4856516)x1	C17orf107, CHRNE +14 more	Copy number loss	See cases	GUncertain significance
Select item 395716	GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486)	AIPL1, ALOX15 +115 more	Copy number gain	See cases	GPathogenic
Select item 154947	GRCh38/hg38 17p13.2(chr17:4141725-4873241)x3	ALOX15, ANKFY1 +70 more	Copy number gain	See cases	GUncertain significance
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 150854	GRCh38/hg38 17p13.2(chr17:4092608-5354473)x3	ALOX15, ANKFY1 +141 more	Copy number gain	See cases	GLikely benign
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 146235	GRCh38/hg38 17p13.2(chr17:4044302-5943772)x1	ALOX15, ANKFY1 +166 more	Copy number loss	See cases	GLikely pathogenic
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 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	ABR, ABR-AS1 +498 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 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	AIPL1, ALOX12 +290 more	Copy number loss	See cases	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 60