17722[HGNC] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 60180	GRCh38/hg38 2p15-14(chr2:63311999-67309291)x1	ACTR2, AFTPH +173 more	Copy number loss	See cases	GPathogenic
Select item 152020	GRCh38/hg38 2p14-13.3(chr2:64587095-69876311)x1	AAK1, ACTR2 +216 more	Copy number loss	See cases	GLikely pathogenic
Select item 2237980	NM_181784.3(SPRED2):c.1220G>A (p.Cys407Tyr)	SPRED2 (C404Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169365	NM_181784.3(SPRED2):c.1193G>A (p.Arg398Gln)	SPRED2 (R395Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1209657	NM_181784.3(SPRED2):c.1142_1143del (p.Leu381fs)	SPRED2 (L378fs +1 more)	Deletion (frameshift variant)	Noonan syndrome	GPathogenic
Select item 2307745	NM_181784.3(SPRED2):c.1138G>A (p.Ala380Thr)	SPRED2 (A380T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557148	NM_181784.3(SPRED2):c.1105A>G (p.Thr369Ala)	SPRED2 (T366A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169364	NM_181784.3(SPRED2):c.1089C>A (p.Asp363Glu)	SPRED2 (D360E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605622	NM_181784.3(SPRED2):c.1032G>C (p.Trp344Cys)	SPRED2 (W344C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322364	NM_181784.3(SPRED2):c.1015C>T (p.Arg339Trp)	SPRED2 (R336W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169373	NM_181784.3(SPRED2):c.950A>T (p.Asn317Ile)	SPRED2 (N314I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169372	NM_181784.3(SPRED2):c.943A>T (p.Met315Leu)	SPRED2 (M315L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169371	NM_181784.3(SPRED2):c.943A>C (p.Met315Leu)	SPRED2 (M312L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169370	NM_181784.3(SPRED2):c.931T>C (p.Tyr311His)	SPRED2 (Y308H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169369	NM_181784.3(SPRED2):c.917G>A (p.Arg306His)	SPRED2 (R306H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550488	NM_181784.3(SPRED2):c.892C>T (p.Arg298Trp)	SPRED2 (R298W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345083	NM_181784.3(SPRED2):c.848G>A (p.Arg283His)	SPRED2 (R283H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322363	NM_181784.3(SPRED2):c.791A>G (p.Tyr264Cys)	SPRED2 (Y264C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478148	NM_181784.3(SPRED2):c.768G>C (p.Lys256Asn)	SPRED2 (K253N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218769	NM_181784.3(SPRED2):c.728C>T (p.Pro243Leu)	SPRED2 (P240L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289701	NM_181784.3(SPRED2):c.596C>G (p.Pro199Arg)	SPRED2 (P199R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275025	NM_181784.3(SPRED2):c.595C>T (p.Pro199Ser)	SPRED2 (P199S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651009	NM_181784.3(SPRED2):c.589-8C>T	SPRED2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2543130	NM_181784.3(SPRED2):c.583G>C (p.Asp195His)	SPRED2 (D192H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169368	NM_181784.3(SPRED2):c.573C>A (p.His191Gln)	SPRED2 (H188Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285602	NM_181784.3(SPRED2):c.568G>A (p.Asp190Asn)	SPRED2 (D190N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591332	NM_181784.3(SPRED2):c.524G>A (p.Arg175Gln)	SPRED2 (R175Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169367	NM_181784.3(SPRED2):c.490C>T (p.Arg164Trp)	SPRED2 (R161W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385065	NM_181784.3(SPRED2):c.464C>T (p.Ser155Phe)	SPRED2 (S155F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243178	NM_181784.3(SPRED2):c.425A>G (p.Asp142Gly)	SPRED2 (D139G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169366	NM_181784.3(SPRED2):c.398T>C (p.Ile133Thr)	SPRED2 (I133T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499566	NM_181784.2(SPRED2):c.374delG	SPRED2	Deletion	Severe postnatal growth retardation	GUncertain significance
Select item 1209658	NM_181784.3(SPRED2):c.299T>C (p.Leu100Pro)	SPRED2 (L100P +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic
Select item 2651010	NM_181784.3(SPRED2):c.204+205C>T	SPRED2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1210167	NM_181784.3(SPRED2):c.187C>T (p.Arg63Ter)	SPRED2 (R60* +1 more)	Single nucleotide variant (nonsense)	Noonan syndrome 14 +1 more	GPathogenic
Select item 2554888	NM_181784.3(SPRED2):c.109G>A (p.Gly37Arg)	SPRED2 (G34R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3362677	NM_181784.3(SPRED2):c.89G>A (p.Trp30Ter)	SPRED2 (W27* +1 more)	Single nucleotide variant (nonsense)	Noonan syndrome 14	GLikely pathogenic
Select item 775723	NM_181784.3(SPRED2):c.81C>T (p.Ser27=)	SPRED2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2309386	NM_181784.3(SPRED2):c.44G>A (p.Arg15His)	SPRED2 (R15H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 151435	GRCh38/hg38 2p14(chr2:65377225-66768570)x3	LINC01798, LINC01873 +48 more	Copy number gain	See cases	GUncertain significance
Select item 2241137	NM_181784.3(SPRED2):c.10G>A (p.Glu4Lys)	SPRED2 (E4K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498868	GRCh37/hg19 2p14-13.3(chr2:65296579-71305638)x1	AAK1, ACTR2 +43 more	Copy number loss	not provided	GUncertain significance
Select item 1808941	GRCh37/hg19 2p14(chr2:65110275-65556249)x1	ACTR2, CEP68 +3 more	Copy number loss	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 980978	GRCh37/hg19 2p14(chr2:65595585-66081477)x3	SPRED2	Copy number gain	not provided	GUncertain significance
Select item 814271	GRCh37/hg19 2p14(chr2:65379957-66469397)x3	SPRED2, ACTR2	Copy number gain	not provided	GUncertain significance
Select item 687379	GRCh37/hg19 2p15-14(chr2:63536353-65793944)x1	ACTR2, AFTPH +11 more	Copy number loss	not provided	GPathogenic
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 547118	GRCh37/hg19 2p14(chr2:65502450-68225338)x1	MEIS1, ETAA1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 443366	GRCh37/hg19 2p15-14(chr2:61701437-65731084)x1	ACTR2, AFTPH +19 more	Copy number loss	See cases	GLikely pathogenic
Select item 443261	GRCh37/hg19 2p15-14(chr2:63234780-67908846)x1	ACTR2, AFTPH +16 more	Copy number loss	See cases	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic

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Items: 57