15880[HGNC] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 146032	GRCh38/hg38 20q11.21(chr20:31254983-33473080)x3	LOC121627902, LOC121853002 +160 more	Copy number gain	See cases	GPathogenic
Select item 153447	GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3	ACSS2, ACTL10 +254 more	Copy number gain	See cases	GPathogenic
Select item 2208532	NM_016408.4(CDK5RAP1):c.1643T>C (p.Leu548Pro)	CDK5RAP1 (L562P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141564	NM_016408.4(CDK5RAP1):c.1604T>C (p.Phe535Ser)	CDK5RAP1 (F458S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455307	NM_016408.4(CDK5RAP1):c.1472T>A (p.Ile491Asn)	CDK5RAP1 (I414N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214888	NM_016408.4(CDK5RAP1):c.1430C>T (p.Pro477Leu)	CDK5RAP1 (P450L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265483	NM_016408.4(CDK5RAP1):c.1400G>A (p.Arg467Gln)	CDK5RAP1 (R390Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220104	NM_016408.4(CDK5RAP1):c.1312G>C (p.Glu438Gln)	CDK5RAP1 (E411Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287714	NM_016408.4(CDK5RAP1):c.1307C>T (p.Thr436Met)	CDK5RAP1 (T437M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265482	NM_016408.4(CDK5RAP1):c.1300G>C (p.Gly434Arg)	CDK5RAP1 (G435R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141563	NM_016408.4(CDK5RAP1):c.1279G>A (p.Asp427Asn)	CDK5RAP1 (D350N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 929052	NM_016408.4(CDK5RAP1):c.1107+5G>A	CDK5RAP1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2209645	NM_016408.4(CDK5RAP1):c.1038G>C (p.Gln346His)	CDK5RAP1 (Q347H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568957	NM_016408.4(CDK5RAP1):c.1037A>G (p.Gln346Arg)	CDK5RAP1 (Q319R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556747	NM_016408.4(CDK5RAP1):c.1015C>T (p.Arg339Cys)	CDK5RAP1 (R339C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141571	NM_016408.4(CDK5RAP1):c.949A>G (p.Ser317Gly)	CDK5RAP1 (S318G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141570	NM_016408.4(CDK5RAP1):c.835A>G (p.Ile279Val)	CDK5RAP1 (I280V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3141569	NM_016408.4(CDK5RAP1):c.829C>T (p.Arg277Trp)	CDK5RAP1 (R250W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212629	NM_016408.4(CDK5RAP1):c.811C>T (p.Arg271Trp)	CDK5RAP1 (R272W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141568	NM_016408.4(CDK5RAP1):c.788G>A (p.Ser263Asn)	CDK5RAP1 (S236N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519482	NM_016408.4(CDK5RAP1):c.764T>C (p.Met255Thr)	CDK5RAP1 (M228T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263787	NM_016408.4(CDK5RAP1):c.763A>C (p.Met255Leu)	CDK5RAP1 (M228L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 741491	NM_016408.4(CDK5RAP1):c.675C>A (p.Ala225=)	CDK5RAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3141567	NM_016408.4(CDK5RAP1):c.662G>A (p.Gly221Asp)	CDK5RAP1 (G221D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396617	NM_016408.4(CDK5RAP1):c.637C>T (p.Arg213Trp)	CDK5RAP1 (R213W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141566	NM_016408.4(CDK5RAP1):c.533T>C (p.Ile178Thr)	CDK5RAP1 (I151T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568894	NM_016408.4(CDK5RAP1):c.511C>T (p.Arg171Cys)	CDK5RAP1 (R171C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141565	NM_016408.4(CDK5RAP1):c.421C>T (p.Leu141Phe)	CDK5RAP1 (L141F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259675	NM_016408.4(CDK5RAP1):c.389G>A (p.Arg130Gln)	CDK5RAP1 (R131Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210854	NM_016408.4(CDK5RAP1):c.151G>A (p.Ala51Thr)	CDK5RAP1 (A51T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238095	NM_016408.4(CDK5RAP1):c.138G>T (p.Arg46Ser)	CDK5RAP1 (R46S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279397	NM_016408.4(CDK5RAP1):c.103A>G (p.Ser35Gly)	CDK5RAP1 (S35G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3248297	NC_000020.10:g.(?_31571600)_(33001705_?)del	ACTL10, AHCY +22 more	Deletion	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GPathogenic
Select item 3248260	NC_000020.10:g.(?_31368130)_(34287210_?)del	ACSS2, ACTL10 +51 more	Deletion	Glutathione synthetase deficiency with 5-oxoprolinuria	GPathogenic
Select item 1809278	GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3	AAR2, ACSS2 +98 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808687	GRCh37/hg19 20q11.21-11.23(chr20:29833535-34815537)x3	ACSS2, ACTL10 +86 more	Copy number gain	not provided	GLikely pathogenic
Select item 1526690	GRCh37/hg19 20p11.21-q11.22(chr20:25442597-33761550)	ACSS2, ACTL10 +71 more	Copy number gain	not specified	GPathogenic
Select item 1457888	NC_000020.10:g.(?_31189994)_(34287210_?)del	ACSS2, ACTL10 +53 more	Deletion	not provided	GPathogenic
Select item 1341087	GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3	ABHD12, ACSS1 +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 816125	GRCh37/hg19 20q11.21-11.22(chr20:31966407-33169058)x3	PIGU, E2F1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 689044	GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3	AAR2, ACSS2 +88 more	Copy number gain	not provided	GPathogenic
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)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic

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Items: 45