RNF19A[gene] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 148247	GRCh38/hg38 8q22.2-22.3(chr8:99580206-101547228)x1	LOC130000846, LOC130000847 +96 more	Copy number loss	See cases	GLikely pathogenic
Select item 57124	GRCh38/hg38 8q22.2-22.3(chr8:100023254-101190270)x3	ANKRD46, FBXO43 +77 more	Copy number gain	See cases	GPathogenic
Select item 153234	GRCh38/hg38 8q22.2-23.1(chr8:100179408-106524667)x1	ANKRD46, ATP6V1C1 +234 more	Copy number loss	See cases	GPathogenic
Select item 3155232	NM_183419.4(RNF19A):c.2462A>G (p.Asn821Ser)	RNF19A (N821S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283112	NM_183419.4(RNF19A):c.2405A>G (p.Asn802Ser)	LOC130000834, RNF19A (N802S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2529669	NM_183419.4(RNF19A):c.2285A>T (p.Glu762Val)	RNF19A (E762V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542804	NM_183419.4(RNF19A):c.2275A>G (p.Ile759Val)	RNF19A (I759V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230598	NM_183419.4(RNF19A):c.2258G>A (p.Arg753His)	RNF19A (R753H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592501	NM_183419.4(RNF19A):c.2131C>G (p.Pro711Ala)	RNF19A (P711A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526987	NM_183419.4(RNF19A):c.2087A>G (p.Gln696Arg)	RNF19A (Q696R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155231	NM_183419.4(RNF19A):c.2066C>T (p.Thr689Met)	RNF19A (T689M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392316	NM_183419.4(RNF19A):c.2060A>G (p.Asn687Ser)	RNF19A (N687S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314812	NM_183419.4(RNF19A):c.1994A>C (p.Lys665Thr)	RNF19A (K665T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380240	NM_183419.4(RNF19A):c.1942G>A (p.Gly648Ser)	LOC130000835, RNF19A (G648S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607257	NM_183419.4(RNF19A):c.1930A>G (p.Ser644Gly)	LOC130000835, RNF19A (S644G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552662	NM_183419.4(RNF19A):c.1906G>A (p.Val636Met)	LOC130000835, RNF19A (V636M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533940	NM_183419.4(RNF19A):c.1822G>C (p.Asp608His)	RNF19A (D608H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155230	NM_183419.4(RNF19A):c.1730G>A (p.Gly577Glu)	RNF19A (G577E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224182	NM_183419.4(RNF19A):c.1663A>G (p.Met555Val)	RNF19A (M555V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495378	NM_183419.4(RNF19A):c.1640C>T (p.Thr547Met)	RNF19A (T547M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328430	NM_183419.4(RNF19A):c.1210G>A (p.Gly404Ser)	RNF19A (G404S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658713	NM_183419.4(RNF19A):c.1202G>A (p.Arg401His)	RNF19A (R401H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2590352	NM_183419.4(RNF19A):c.848C>T (p.Ser283Leu)	RNF19A (S283L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314813	NM_183419.4(RNF19A):c.759C>G (p.His253Gln)	RNF19A (H253Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314814	NM_183419.4(RNF19A):c.728G>A (p.Arg243Gln)	RNF19A (R243Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155236	NM_183419.4(RNF19A):c.646T>A (p.Cys216Ser)	RNF19A (C216S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 792109	NM_183419.4(RNF19A):c.591G>A (p.Leu197=)	RNF19A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3155235	NM_183419.4(RNF19A):c.565C>G (p.Arg189Gly)	RNF19A (R189G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155234	NM_183419.4(RNF19A):c.374A>G (p.Gln125Arg)	RNF19A (Q125R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155233	NM_183419.4(RNF19A):c.293A>G (p.His98Arg)	RNF19A (H98R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314811	NM_183419.4(RNF19A):c.236G>A (p.Arg79His)	RNF19A (R79H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549367	NM_183419.4(RNF19A):c.235C>T (p.Arg79Cys)	RNF19A (R79C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347699	NM_183419.4(RNF19A):c.181A>C (p.Lys61Gln)	RNF19A (K61Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389752	NM_183419.4(RNF19A):c.85A>G (p.Ile29Val)	RNF19A (I29V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2685318	GRCh37/hg19 8q22.2-22.3(chr8:100446969-102315070)x1	ANKRD46, COX6C +10 more	Copy number loss	not provided	GUncertain significance
Select item 2684546	GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3	ANKRD46, ATP6V0D2 +96 more	Copy number gain	not provided	GPathogenic
Select item 2426944	NC_000008.10:g.(?_98358247)_(106815766_?)dup	ANKRD46, ATP6V1C1 +40 more	Duplication	not provided	GUncertain significance
Select item 1809446	GRCh37/hg19 8q22.2(chr8:100791384-101278033)x3	COX6C, FBXO43 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1808681	GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	AARD, ABRA +141 more	Copy number gain	not provided	GPathogenic
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1676301	GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	FZD6, PCAT1 +236 more	Copy number gain	not provided	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1449127	NC_000008.10:g.(?_99135566)_(106815766_?)dup	ANKRD46, ATP6V1C1 +34 more	Duplication	Cohen syndrome	GUncertain significance
Select item 815149	GRCh37/hg19 8q22.2(chr8:100791383-101278033)x3	POLR2K, RNF19A +5 more	Copy number gain	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 563556	GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3	DCAF13, CNGB3 +105 more	Copy number gain	not provided	GPathogenic
Select item 563534	GRCh37/hg19 8q22.2-22.3(chr8:100551211-103676738)x1	COX6C, UBR5 +17 more	Copy number loss	not provided	GPathogenic
Select item 443924	GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3	AARD, ABRA +277 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 441804	GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3	RRM2B, SLC30A8 +160 more	Copy number gain	See cases	GPathogenic
Select item 441594	GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3	SLC45A4, SLC7A13 +189 more	Copy number gain	See cases	GPathogenic
Select item 395449	GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4	AARD, ABRA +228 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic

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Items: 73