5-Hydroxy-p-cymene-2-sulfonic acid - ClinVar

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Items: 25

The following terms were not found in ClinVar: cymene, sulfonic.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 553933	NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter)	HMGCL (R41*)	Single nucleotide variant (nonsense)	Deficiency of hydroxymethylglutaryl-CoA lyase	GPathogenic/Likely pathogenic
Select item 870424	NM_005518.4(HMGCS2):c.905C>T (p.Thr302Ile)	HMGCS2 (T260I +1 more)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely pathogenic
Select item 1327464	NM_005518.4(HMGCS2):c.821G>A (p.Arg274His)	HMGCS2 (R232H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2628076	NM_005518.4(HMGCS2):c.164G>A (p.Gly55Asp)	HMGCS2 (G55D)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely pathogenic
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LOC126807363, LOC126807364 +518 more	Copy number gain	See cases	GPathogenic
Select item 2400155	NM_000859.3(HMGCR):c.830C>T (p.Pro277Leu)	HMGCR (P277L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1803007	NM_000859.3(HMGCR):c.2465G>A (p.Gly822Asp)	HMGCR (G769D +1 more)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy	GPathogenic
Select item 1808669	GRCh37/hg19 5p13.3-11(chr5:29348753-46389339)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	not provided	GPathogenic
Select item 1527153	GRCh37/hg19 5p14.1-11(chr5:26382110-46389339)	ADAMTS12, AGXT2 +72 more	Copy number gain	not specified	GPathogenic
Select item 1012370	GRCh37/hg19 5p13.3-12(chr5:29081195-45294031)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	See cases	GPathogenic
Select item 687304	GRCh37/hg19 5p13.2-11(chr5:34453883-46389339)x3	AGXT2, ANXA2R +56 more	Copy number gain	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563053	GRCh37/hg19 5p14.1-12(chr5:27227243-45685844)x3	C1QTNF3, C5orf22 +71 more	Copy number gain	not provided	GPathogenic
Select item 442809	GRCh37/hg19 5p14.2-11(chr5:24281195-46389339)x3	ADAMTS12, AGXT2 +73 more	Copy number gain	See cases	GLikely pathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 253597	GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3	RXFP3, GDNF +89 more	Copy number gain	See cases	GPathogenic
Select item 8409	CYP2C9*2	CYP2C9 (R144C)	Single nucleotide variant (missense variant)	not specified +4 more	GLikely benign; drug response; other
Select item 441764	GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3	HTR2A, IFT88 +332 more	Copy number gain	See cases	GPathogenic
Select item 2371809	NM_025193.4(HSD3B7):c.662C>T (p.Pro221Leu)	HSD3B7 (P221L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 25