RHPN2[gene] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 155638	GRCh38/hg38 19q11-13.11(chr19:27780238-34783942)x3	ANKRD27, C19orf12 +210 more	Copy number gain	See cases	GUncertain significance
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 153499	GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1	ANKRD27, CD22 +193 more	Copy number loss	See cases	GPathogenic
Select item 2548928	NM_033103.5(RHPN2):c.2042C>T (p.Ser681Leu)	RHPN2 (S681L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377240	NM_033103.5(RHPN2):c.2039A>G (p.Asn680Ser)	RHPN2 (N680S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154144	NM_033103.5(RHPN2):c.2009A>G (p.Lys670Arg)	RHPN2 (K670R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154143	NM_033103.5(RHPN2):c.1897A>C (p.Lys633Gln)	RHPN2 (K633Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314262	NM_033103.5(RHPN2):c.1841C>T (p.Thr614Met)	RHPN2 (T614M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318781	NM_033103.5(RHPN2):c.1825G>A (p.Val609Met)	RHPN2 (V609M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314259	NM_033103.5(RHPN2):c.1796C>T (p.Ser599Phe)	RHPN2 (S599F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360528	NM_033103.5(RHPN2):c.1750G>T (p.Asp584Tyr)	RHPN2 (D584Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559053	NM_033103.5(RHPN2):c.1657C>T (p.Arg553Trp)	RHPN2 (R553W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458026	NM_033103.5(RHPN2):c.1573G>A (p.Asp525Asn)	RHPN2 (D525N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 403376	NM_033103.5(RHPN2):c.1552C>T (p.Arg518Cys)	RHPN2 (R518C)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 2601731	NM_033103.5(RHPN2):c.1529G>A (p.Arg510Gln)	RHPN2 (R510Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649691	NM_033103.5(RHPN2):c.1479G>A (p.Thr493=)	RHPN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3154142	NM_033103.5(RHPN2):c.1460T>C (p.Phe487Ser)	RHPN2 (F487S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454935	NM_033103.5(RHPN2):c.1363G>A (p.Ala455Thr)	RHPN2 (A455T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 791356	NM_033103.5(RHPN2):c.1360T>G (p.Tyr454Asp)	RHPN2 (Y454D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3314260	NM_033103.5(RHPN2):c.1352G>A (p.Arg451Gln)	RHPN2 (R451Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2476952	NM_033103.5(RHPN2):c.1349C>T (p.Ser450Phe)	RHPN2 (S450F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329604	NM_033103.5(RHPN2):c.1307T>C (p.Ile436Thr)	RHPN2 (I436T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314261	NM_033103.5(RHPN2):c.1301G>A (p.Arg434Gln)	RHPN2 (R434Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262957	NM_033103.5(RHPN2):c.1300C>T (p.Arg434Trp)	RHPN2 (R434W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2296039	NM_033103.5(RHPN2):c.1289G>T (p.Cys430Phe)	RHPN2 (C430F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407021	NM_033103.5(RHPN2):c.1280C>T (p.Ala427Val)	RHPN2 (A427V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313731	NM_033103.5(RHPN2):c.1274G>A (p.Arg425Gln)	RHPN2 (R425Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154141	NM_033103.5(RHPN2):c.1207C>G (p.Gln403Glu)	RHPN2 (Q403E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318223	NM_033103.5(RHPN2):c.1055A>G (p.Tyr352Cys)	RHPN2 (Y352C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265269	NM_033103.5(RHPN2):c.1039G>A (p.Val347Met)	RHPN2 (V347M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460820	NM_033103.5(RHPN2):c.1037G>A (p.Cys346Tyr)	RHPN2 (C346Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598981	NM_033103.5(RHPN2):c.1034C>T (p.Ala345Val)	RHPN2 (A345V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777526	NM_033103.5(RHPN2):c.1024G>C (p.Ala342Pro)	RHPN2 (A342P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2470174	NM_033103.5(RHPN2):c.1012C>T (p.Pro338Ser)	RHPN2 (P338S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300337	NM_033103.5(RHPN2):c.973C>T (p.His325Tyr)	RHPN2 (H325Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649692	NM_033103.5(RHPN2):c.948+8T>C	RHPN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2278473	NM_033103.5(RHPN2):c.902G>A (p.Arg301Gln)	RHPN2 (R301Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3154153	NM_033103.5(RHPN2):c.889C>T (p.Leu297Phe)	RHPN2 (L297F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309932	NM_033103.5(RHPN2):c.877G>A (p.Glu293Lys)	RHPN2 (E293K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154152	NM_033103.5(RHPN2):c.838G>A (p.Val280Ile)	RHPN2 (V280I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779185	NM_033103.5(RHPN2):c.832G>A (p.Val278Met)	RHPN2 (V278M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2458842	NM_033103.5(RHPN2):c.811A>T (p.Met271Leu)	RHPN2 (M271L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649693	NM_033103.5(RHPN2):c.652A>T (p.Ser218Cys)	RHPN2 (S218C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3154151	NM_033103.5(RHPN2):c.565A>G (p.Thr189Ala)	RHPN2 (T189A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570391	NM_033103.5(RHPN2):c.479C>T (p.Thr160Met)	RHPN2 (T160M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 761865	NM_033103.5(RHPN2):c.469-4G>A	RHPN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3154147	NM_033103.5(RHPN2):c.448G>T (p.Asp150Tyr)	RHPN2 (D150Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314258	NM_033103.5(RHPN2):c.430T>C (p.Tyr144His)	RHPN2 (Y144H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207082	NM_033103.5(RHPN2):c.379G>A (p.Val127Ile)	RHPN2 (V127I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209690	NM_033103.5(RHPN2):c.296G>A (p.Gly99Asp)	RHPN2 (G99D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154146	NM_033103.5(RHPN2):c.238G>A (p.Val80Ile)	RHPN2 (V80I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154145	NM_033103.5(RHPN2):c.221G>A (p.Arg74Gln)	RHPN2 (R74Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407600	NM_033103.5(RHPN2):c.199T>C (p.Ser67Pro)	RHPN2 (S67P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2342962	NM_033103.5(RHPN2):c.155G>A (p.Arg52Gln)	RHPN2 (R52Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230400	NM_033103.5(RHPN2):c.139A>G (p.Ile47Val)	RHPN2 (I47V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154150	NM_033103.5(RHPN2):c.55G>T (p.Gly19Cys)	LOC130064169, RHPN2 (G19C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154149	NM_033103.5(RHPN2):c.46G>A (p.Glu16Lys)	LOC130064169, RHPN2 (E16K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2684890	GRCh37/hg19 19q13.11(chr19:33301640-34007202)x3	CEBPA, CEBPG +9 more	Copy number gain	not provided	GUncertain significance
Select item 2684889	GRCh37/hg19 19q12-13.11(chr19:32052961-34144873)x3	ANKRD27, CEBPA +17 more	Copy number gain	not provided	GUncertain significance
Select item 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	ALKBH6, APLP1 +83 more	Duplication	Hereditary spastic paraplegia 75	GUncertain significance
Select item 1526660	GRCh37/hg19 19q13.11(chr19:32827535-35263640)	ANKRD27, CEBPA +28 more	Copy number gain	not specified	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 1020169	NC_000019.9:g.(?_33532300)_(33793320_?)dup	CEBPA, GPATCH1 +4 more	Duplication	Acute myeloid leukemia	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394109	GRCh37/hg19 19q12-13.12(chr19:30735448-36120396)x3	ANKRD27, ATP4A +58 more	Copy number gain	See cases	GPathogenic

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Items: 71