ClinVar for Gene (Select 55660) - ClinVar

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Links from Gene

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3310367	NM_001365597.4(PRPF40A):c.1642G>A (p.Ala548Thr)	PRPF40A (A402T +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310366	NM_001365597.4(PRPF40A):c.2806A>G (p.Lys936Glu)	PRPF40A (K824E +17 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310365	NM_001365597.4(PRPF40A):c.274A>G (p.Met92Val)	PRPF40A (M92V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219174	NM_001365597.4(PRPF40A):c.893C>T (p.Ala298Val)	PRPF40A (A238V +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219173	NM_001365597.4(PRPF40A):c.890C>G (p.Ala297Gly)	PRPF40A (A183G +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219172	NM_001365597.4(PRPF40A):c.56G>T (p.Gly19Val)	LOC129934933, PRPF40A (G19V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219171	NM_001365597.4(PRPF40A):c.2528C>T (p.Ser843Phe)	PRPF40A (S701F +17 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219170	NM_001365597.4(PRPF40A):c.22C>T (p.Arg8Trp)	LOC129934933, PRPF40A (R72W +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3219169	NM_001365597.4(PRPF40A):c.19C>G (p.Arg7Gly)	LOC129934933, PRPF40A (R71G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062645	GRCh37/hg19 2q23.3(chr2:151626277-154149348)x1	ARL5A, ARL6IP6 +9 more	Copy number loss	not specified	GUncertain significance
Select item 2609292	NM_001365597.4(PRPF40A):c.917C>G (p.Ala306Gly)	PRPF40A (A160G +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494101	NM_001365597.4(PRPF40A):c.13A>C (p.Ser5Arg)	LOC129934933, PRPF40A (S5R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474378	NM_001365597.4(PRPF40A):c.1773T>A (p.Asp591Glu)	PRPF40A (D613E +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465119	NM_001365597.4(PRPF40A):c.16G>A (p.Gly6Ser)	LOC129934933, PRPF40A (G6S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454531	NM_001365597.4(PRPF40A):c.1540A>G (p.Ile514Val)	PRPF40A (I400V +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375379	NM_001365597.4(PRPF40A):c.1006A>G (p.Ile336Val)	PRPF40A (I190V +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367241	NM_001365597.4(PRPF40A):c.439A>G (p.Met147Val)	PRPF40A (M90V +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2365217	NM_001365597.4(PRPF40A):c.1418C>T (p.Ser473Leu)	PRPF40A (S327L +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357180	NM_001365597.4(PRPF40A):c.673G>A (p.Ala225Thr)	PRPF40A (A111T +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318492	NM_001365597.4(PRPF40A):c.2563C>A (p.His855Asn)	PRPF40A (H739N +17 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264636	NM_001365597.4(PRPF40A):c.837T>G (p.Ile279Met)	PRPF40A (I181M +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259305	NM_001365597.4(PRPF40A):c.1760T>C (p.Met587Thr)	PRPF40A (M471T +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207942	NM_001365597.4(PRPF40A):c.2732A>G (p.Lys911Arg)	PRPF40A (K816R +17 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1340817	GRCh37/hg19 2q23.3(chr2:153211493-153511384)x3	FMNL2, PRPF40A	Copy number gain	not provided	GUncertain significance
Select item 1339787	GRCh37/hg19 2q23.3-24.2(chr2:152967964-160089210)x3	ACVR1, ACVR1C +17 more	Copy number gain	not provided	Gnot provided
Select item 814314	GRCh37/hg19 2q22.3-24.1(chr2:147173792-158346266)x1	ARL6IP6, CACNB4 +25 more	Copy number loss	not provided	GPathogenic
Select item 711346	NM_001365597.4(PRPF40A):c.1606-8_1606-3del	PRPF40A	Deletion (intron variant)	not provided	GBenign
Select item 711345	NM_001365597.4(PRPF40A):c.1938A>G (p.Ser646=)	PRPF40A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 562665	GRCh37/hg19 2q23.2-23.3(chr2:150134077-154848282)x1	ARL5A, ARL6IP6 +14 more	Copy number loss	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
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
Select item 154597	GRCh38/hg38 2q23.3-24.2(chr2:151932344-159419734)x1	ACVR1, ACVR1C +147 more	Copy number loss	See cases	GPathogenic
Select item 154515	GRCh38/hg38 2q22.3-24.1(chr2:146324191-156219125)x3	ACVR2A, ARL5A +146 more	Copy number gain	See cases	GPathogenic
Select item 146076	GRCh38/hg38 2q22.3-24.1(chr2:143900149-158321624)x3	ACVR1, ACVR1C +238 more	Copy number gain	See cases	GPathogenic
Select item 60219	GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)x1	ACVR1, ACVR1C +333 more	Copy number loss	See cases	GPathogenic
Select item 60217	GRCh38/hg38 2q22.3-23.3(chr2:147590324-153496674)x1	ACVR2A, ARL5A +119 more	Copy number loss	See cases	GPathogenic
Select item 60216	GRCh38/hg38 2q22.3-24.1(chr2:147251948-157856378)x1	ACVR1, ACVR1C +189 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 39