ClinVar for Gene (Select 92162) - ClinVar

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Links from Gene

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3179698	NM_203411.2(TMEM88):c.91G>T (p.Val31Leu)	TMEM88 (V31L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179697	NM_203411.2(TMEM88):c.403C>A (p.Arg135Ser)	TMEM88 (R135S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179696	NM_203411.2(TMEM88):c.388C>G (p.Leu130Val)	TMEM88 (L130V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179695	NM_203411.2(TMEM88):c.14C>G (p.Pro5Arg)	TMEM88 (P5R)	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 2671586	Single allele	TMEM88, TRG-GCC2-6 +31 more	Duplication	not provided	GUncertain significance
Select item 2624300	NM_203411.2(TMEM88):c.26G>A (p.Arg9Gln)	TMEM88 (R9Q)	Single nucleotide variant (missense variant)	not specified	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 2554832	NM_203411.2(TMEM88):c.91G>C (p.Val31Leu)	TMEM88 (V31L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511316	NM_203411.2(TMEM88):c.383G>A (p.Arg128Gln)	TMEM88 (R128Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2498727	GRCh37/hg19 17p13.1(chr17:7004894-7766789)x1	ACADVL, ACAP1 +48 more	Copy number loss	not provided	GPathogenic
Select item 2423280	NC_000017.10:g.(?_7571752)_(8285628_?)del	ALOX12B, ALOX15B +33 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 2423278	NC_000017.10:g.(?_7120455)_(8151423_?)del	ALOX15B, ACADVL +66 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 2422139	NC_000017.10:g.(?_7123304)_(8193254_?)del	NEURL4, NLGN2 +69 more	Deletion	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 2371853	NM_203411.2(TMEM88):c.451G>A (p.Val151Ile)	TMEM88 (V151I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366158	NM_203411.2(TMEM88):c.217C>G (p.Arg73Gly)	TMEM88 (R73G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363363	NM_203411.2(TMEM88):c.332G>A (p.Arg111His)	TMEM88 (R111H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333751	NM_203411.2(TMEM88):c.34C>T (p.Pro12Ser)	TMEM88 (P12S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264940	NM_203411.2(TMEM88):c.394C>T (p.Arg132Trp)	TMEM88 (R132W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255835	NM_203411.2(TMEM88):c.464G>T (p.Gly155Val)	TMEM88 (G155V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227795	NM_203411.2(TMEM88):c.73T>G (p.Trp25Gly)	TMEM88 (W25G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216244	NM_203411.2(TMEM88):c.250C>G (p.Arg84Gly)	TMEM88 (R84G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207002	NM_203411.2(TMEM88):c.454C>G (p.Pro152Ala)	TMEM88 (P152A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809151	GRCh37/hg19 17p13.1(chr17:7381537-8068400)x3	ALOX12B, ALOX15B +37 more	Copy number gain	not provided	GUncertain significance
Select item 1526568	GRCh37/hg19 17p13.1(chr17:7593552-8225803)	ALOX12B, ALOX15B +29 more	Copy number gain	not specified	GUncertain significance
Select item 1526567	GRCh37/hg19 17p13.1(chr17:7241916-8692213)	ACAP1, ALOX12B +65 more	Copy number loss	not specified	GPathogenic
Select item 1526566	GRCh37/hg19 17p13.1(chr17:7020054-8086290)	ACADVL, ACAP1 +64 more	Copy number loss	not specified	GPathogenic
Select item 1376044	NC_000017.10:g.(?_7571752)_(8135555_?)del	ALOX12B, ALOX15B +26 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 980123	GRCh37/hg19 17p13.1(chr17:6650649-8040151)x3	TMEM102, TNFSF12 +74 more	Copy number gain	not provided	GPathogenic
Select item 831200	NC_000017.10:g.(?_6589506)_(8151374_?)dup	KCNAB3, KCTD11 +81 more	Duplication	Dyskeratosis congenita +1 more	GUncertain significance
Select item 687831	GRCh37/hg19 17p13.1(chr17:7676383-8350870)x3	ALOX12B, ALOX15B +32 more	Copy number gain	not provided	GUncertain significance
Select item 649065	NC_000017.11:g.(?_7669599)_(8382320_?)del	ALOX12B, ALOX15B +141 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 523158	GRCh37/hg19 17p13.1(chr17:6934163-8217978)x1	ACADVL, ACAP1 +75 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 463365	NC_000017.11:g.(?_7669603)_(8382316_?)del	LOC129390832, LOC130060171 +141 more	Deletion	Dyskeratosis congenita +2 more	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 442648	GRCh37/hg19 17p13.1(chr17:7431013-9868179)x3	ALOX12B, ALOX15B +61 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 221529	GRCh37/hg19 17p13.1(chr17:7736464-7798352)x3	CHD3, CYB5D1 +4 more	Copy number gain	Breast ductal adenocarcinoma	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 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR4521, MIR497 +922 more	Copy number gain	See cases	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 59583	GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1	ALOX12B, ALOX15B +191 more	Copy number loss	See cases	GPathogenic
Select item 57356	GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1	SPEM3, TEKT1 +229 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 45