ClinVar for Gene (Select 9032) - ClinVar

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Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2588249	NM_003963.3(TM4SF5):c.161T>C (p.Ile54Thr)	TM4SF5 (I54T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2570536	NM_003963.3(TM4SF5):c.202G>A (p.Val68Ile)	TM4SF5 (V68I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556423	NM_003963.3(TM4SF5):c.329C>A (p.Ala110Asp)	TM4SF5 (A110D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460186	NM_003963.3(TM4SF5):c.385G>A (p.Glu129Lys)	TM4SF5 (E129K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391774	NM_003963.3(TM4SF5):c.464A>C (p.Asn155Thr)	TM4SF5 (N155T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380369	NM_003963.3(TM4SF5):c.206G>A (p.Arg69Gln)	TM4SF5 (R69Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331451	NM_003963.3(TM4SF5):c.361A>G (p.Asn121Asp)	TM4SF5 (N121D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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	CLUH, CRK +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)	RTN4RL1, SCARF1 +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	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +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 +71 more	Copy number gain	See cases	GUncertain significance
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	LOC130060143, LOC130060144 +963 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	MIR22HG, MIR3183 +464 more	Copy number loss	See cases	GPathogenic
Select item 150854	GRCh38/hg38 17p13.2(chr17:4092608-5354473)x3	ALOX15, ANKFY1 +142 more	Copy number gain	See cases	GLikely benign
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR6883, MIR744 +923 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	ABR, ABR-AS1 +652 more	Copy number loss	See cases	GPathogenic
Select item 148440	GRCh38/hg38 17p13.2(chr17:4141725-4778120)x1	ALOX15, ANKFY1 +57 more	Copy number loss	See cases	GUncertain significance
Select item 146235	GRCh38/hg38 17p13.2(chr17:4044302-5943772)x1	LOC130060059, LOC130060060 +167 more	Copy number loss	See cases	GLikely pathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	YWHAE, ZBTB4 +605 more	Copy number gain	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	LOC130059866, LOC130059867 +499 more	Copy number loss	See cases	GPathogenic
Select item 144239	GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1	UBE2G1, USP6 +304 more	Copy number loss	See cases	GPathogenic
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	LOC130060037, LOC130060038 +291 more	Copy number loss	See cases	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC130060025, LOC130060026 +458 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 38