ClinVar for Gene (Select 79183) - ClinVar

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Links from Gene

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3184673	NM_001039199.3(TTPAL):c.86C>T (p.Pro29Leu)	TTPAL (P29L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184672	NM_001039199.3(TTPAL):c.838G>A (p.Glu280Lys)	TTPAL (E280K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184671	NM_001039199.3(TTPAL):c.385T>C (p.Phe129Leu)	TTPAL (F129L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184670	NM_001039199.3(TTPAL):c.321A>C (p.Arg107Ser)	TTPAL (R107S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184669	NM_001039199.3(TTPAL):c.196C>T (p.Arg66Trp)	TTPAL (R66W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613714	NM_001039199.3(TTPAL):c.667G>T (p.Val223Phe)	TTPAL (V223F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609230	NM_001039199.3(TTPAL):c.412C>A (p.Pro138Thr)	TTPAL (P138T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606497	NM_001039199.3(TTPAL):c.548T>C (p.Ile183Thr)	TTPAL (I183T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596785	NM_001039199.3(TTPAL):c.430G>A (p.Val144Ile)	TTPAL (V144I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594009	NM_001039199.3(TTPAL):c.568A>G (p.Lys190Glu)	TTPAL (K190E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570278	NM_001039199.3(TTPAL):c.965C>T (p.Thr322Ile)	TTPAL (T288I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526436	NM_001039199.3(TTPAL):c.281G>A (p.Arg94Gln)	TTPAL (R94Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427543	NC_000020.10:g.(?_43047045)_(43280248_?)del	HNF4A, ADA +3 more	Deletion	not provided	GPathogenic
Select item 2425559	NC_000020.10:g.(?_42223339)_(44638757_?)del	GDAP1L1, GTSF1L +60 more	Deletion	Combined immunodeficiency due to STK4 deficiency	GPathogenic
Select item 2358292	NM_001039199.3(TTPAL):c.801A>C (p.Arg267Ser)	TTPAL (R233S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345132	NM_001039199.3(TTPAL):c.862G>A (p.Ala288Thr)	TTPAL (A288T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204243	NM_001039199.3(TTPAL):c.501G>T (p.Leu167Phe)	TTPAL (L167F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1330181	GRCh37/hg19 20q13.12-13.13(chr20:42985044-48599046)x1	PREX1, PTGIS +79 more	Copy number loss	Developmental and epileptic encephalopathy, 26	GPathogenic
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 493564	GRCh37/hg19 20q13.12(chr20:42818852-43180449)x3	PKIG, R3HDML +6 more	Copy number gain	not provided	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	KIF3B, KIZ +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	LOC130065861, LOC130065862 +568 more	Copy number loss	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065566, LOC130065567 +2522 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 24