ClinVar for Gene (Select 6815) - ClinVar

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Links from Gene

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3323499	NM_145251.4(STYX):c.305C>T (p.Thr102Ile)	STYX (T102I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171848	NM_145251.4(STYX):c.55G>A (p.Glu19Lys)	STYX (E19K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171847	NM_145251.4(STYX):c.43A>G (p.Lys15Glu)	STYX (K15E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171846	NM_145251.4(STYX):c.289C>T (p.Arg97Cys)	STYX (R97C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171845	NM_145251.4(STYX):c.187A>G (p.Ile63Val)	STYX (I63V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684725	GRCh37/hg19 14q22.1(chr14:53005584-53252148)x3	ERO1A, GNPNAT1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2619009	NM_145251.4(STYX):c.39G>T (p.Gln13His)	STYX (Q13H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542467	NM_145251.4(STYX):c.580G>A (p.Val194Ile)	STYX (V194I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334151	NM_145251.4(STYX):c.140G>A (p.Ser47Asn)	STYX (S47N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237347	NM_145251.4(STYX):c.142A>G (p.Lys48Glu)	STYX (K48E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1527818	GRCh37/hg19 14q22.1-22.3(chr14:53241194-55803026)	BMP4, CDKN3 +15 more	Copy number loss	not specified	GPathogenic
Select item 784286	NM_145251.4(STYX):c.58-8C>A	STYX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 564118	GRCh37/hg19 14q22.1(chr14:53077252-53557861)x3	DDHD1, GNPNAT1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 152063	GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3	ABHD12B, ARF6 +394 more	Copy number gain	See cases	GLikely pathogenic
Select item 146623	GRCh38/hg38 14q22.1-22.3(chr14:51544846-55320598)x1	BMP4, CDKN3 +147 more	Copy number loss	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57779	GRCh38/hg38 14q22.1-22.3(chr14:50591011-56286919)x1	ABHD12B, ATG14 +217 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 22