ClinVar for Gene (Select 57727) - ClinVar

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Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248346	NC_000020.10:g.(?_44577592)_(45362473_?)del	CD40, CDH22 +12 more	Deletion	not provided	GPathogenic
Select item 3248279	NC_000020.10:g.(?_42223339)_(45362473_?)del	GTSF1L, HNF4A +72 more	Deletion	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 3248233	NC_000020.10:g.(?_44519965)_(44751017_?)del	CD40, CTSA +6 more	Deletion	Combined deficiency of sialidase AND beta galactosidase	GPathogenic
Select item 3184010	NM_020967.3(NCOA5):c.8C>T (p.Thr3Met)	NCOA5 (T3M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3184008	NM_020967.3(NCOA5):c.766A>G (p.Ile256Val)	NCOA5 (I151V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183999	NM_020967.3(NCOA5):c.523C>T (p.Arg175Trp)	NCOA5 (R112W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183994	NM_020967.3(NCOA5):c.316A>G (p.Met106Val)	NCOA5 (M106V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3183989	NM_020967.3(NCOA5):c.241G>A (p.Val81Ile)	NCOA5 (V81I)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3183957	NM_020967.3(NCOA5):c.1227G>T (p.Gln409His)	NCOA5 (Q304H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183949	NM_020967.3(NCOA5):c.1187G>T (p.Gly396Val)	NCOA5 (V341L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183945	NM_020967.3(NCOA5):c.1177G>T (p.Ala393Ser)	NCOA5 (A288S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600426	NM_020967.3(NCOA5):c.1087A>G (p.Ile363Val)	NCOA5 (I258V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589318	NM_020967.3(NCOA5):c.676G>A (p.Val226Ile)	NCOA5 (V121I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549850	NM_020967.3(NCOA5):c.1618G>T (p.Val540Leu)	NCOA5 (V540L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540589	NM_020967.3(NCOA5):c.1174G>A (p.Gly392Arg)	NCOA5 (G287R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514065	NM_020967.3(NCOA5):c.1445A>G (p.Asn482Ser)	NCOA5 (N482S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475728	NM_020967.3(NCOA5):c.1214C>A (p.Ser405Tyr)	NCOA5 (S405Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375867	NM_020967.3(NCOA5):c.1582G>A (p.Val528Met)	NCOA5 (V423M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353862	NM_020967.3(NCOA5):c.236G>A (p.Arg79His)	NCOA5 (R79H)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2350494	NM_020967.3(NCOA5):c.1319A>G (p.Asn440Ser)	NCOA5 (N440S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340813	NM_020967.3(NCOA5):c.1054A>G (p.Asn352Asp)	NCOA5 (N247D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319320	NM_020967.3(NCOA5):c.662G>C (p.Arg221Pro)	NCOA5 (R116P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280263	NM_020967.3(NCOA5):c.1647G>C (p.Gln549His)	NCOA5 (Q444H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256584	NM_020967.3(NCOA5):c.1555G>A (p.Ala519Thr)	NCOA5 (A414T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251784	NM_020967.3(NCOA5):c.1425A>C (p.Gln475His)	NCOA5 (Q370H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207376	NM_020967.3(NCOA5):c.1366G>C (p.Ala456Pro)	NCOA5 (A351P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205391	NM_020967.3(NCOA5):c.245G>A (p.Arg82Gln)	NCOA5 (R82Q)	Single nucleotide variant (5 prime UTR variant +2 more)	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 787493	NM_020967.3(NCOA5):c.979A>C (p.Arg327=)	NCOA5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	DZANK1, E2F1 +540 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 35