RTKN[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +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 155389	GRCh38/hg38 2p13.1-12(chr2:74375779-75517520)x1	AUP1, C2orf81 +86 more	Copy number loss	See cases	GLikely pathogenic
Select item 3156851	NM_001015055.2(RTKN):c.1664C>T (p.Pro555Leu)	RTKN (P505L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156850	NM_001015055.2(RTKN):c.1625G>A (p.Arg542Gln)	RTKN (R492Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333750	NM_001015055.2(RTKN):c.1610C>A (p.Pro537His)	RTKN (P487H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304409	NM_001015055.2(RTKN):c.1610C>G (p.Pro537Arg)	RTKN (P524R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569875	NM_001015055.2(RTKN):c.1597C>T (p.Arg533Cys)	RTKN (R483C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489742	NM_001015055.2(RTKN):c.1565A>T (p.Asp522Val)	RTKN (D522V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209434	NM_001015055.2(RTKN):c.1418G>T (p.Gly473Val)	RTKN (G423V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555192	NM_001015055.2(RTKN):c.1411C>T (p.Arg471Trp)	RTKN (R421W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340040	NM_001015055.2(RTKN):c.1400T>C (p.Ile467Thr)	RTKN (I454T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511836	NM_001015055.2(RTKN):c.1363A>G (p.Ile455Val)	RTKN (I455V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613561	NM_001015055.2(RTKN):c.1217G>A (p.Ser406Asn)	RTKN (S356N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481512	NM_001015055.2(RTKN):c.1201C>T (p.Arg401Trp)	RTKN (R388W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254205	NM_001015055.2(RTKN):c.1130G>A (p.Arg377Gln)	RTKN (R377Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156849	NM_001015055.2(RTKN):c.1027C>T (p.Arg343Trp)	RTKN (R330W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401295	NM_001015055.2(RTKN):c.982G>C (p.Ala328Pro)	RTKN (A328P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 808782	NM_001015055.2(RTKN):c.957G>C (p.Gln319His)	RTKN (Q319H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2569951	NM_001015055.2(RTKN):c.895C>G (p.Arg299Gly)	RTKN (R249G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592761	NM_001015055.2(RTKN):c.886G>A (p.Val296Met)	RTKN (V246M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156857	NM_001015055.2(RTKN):c.821G>A (p.Arg274His)	RTKN (R224H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156856	NM_001015055.2(RTKN):c.764G>A (p.Arg255His)	RTKN (R242H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549369	NM_001015055.2(RTKN):c.763C>T (p.Arg255Cys)	RTKN (R255C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412029	NM_001015055.2(RTKN):c.688C>T (p.Arg230Trp)	RTKN (R180W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156855	NM_001015055.2(RTKN):c.683G>A (p.Arg228His)	RTKN (R178H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401319	NM_001015055.2(RTKN):c.625G>A (p.Gly209Ser)	RTKN (G196S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609215	NM_001015055.2(RTKN):c.592G>A (p.Ala198Thr)	RTKN (A185T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364762	NM_001015055.2(RTKN):c.554C>T (p.Ala185Val)	RTKN (A135V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156854	NM_001015055.2(RTKN):c.467G>A (p.Gly156Glu)	RTKN (G106E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345100	NM_001015055.2(RTKN):c.436C>T (p.Arg146Cys)	RTKN (R96C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354105	NM_001015055.2(RTKN):c.393G>A (p.Met131Ile)	RTKN (M118I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156853	NM_001015055.2(RTKN):c.359G>A (p.Arg120Gln)	RTKN (R107Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515289	NM_001015055.2(RTKN):c.355G>T (p.Gly119Cys)	RTKN (G69C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215473	NM_001015055.2(RTKN):c.355G>A (p.Gly119Ser)	RTKN (G69S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216486	NM_001015055.2(RTKN):c.341G>A (p.Arg114His)	RTKN (R114H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313552	NM_001015055.2(RTKN):c.340C>T (p.Arg114Cys)	RTKN (R101C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774831	NM_001015055.2(RTKN):c.334G>A (p.Ala112Thr)	RTKN (A62T +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 147468	GRCh38/hg38 2p13.1-12(chr2:74432069-75181627)x3	AUP1, CCDC142 +66 more	Copy number gain	See cases	GUncertain significance
Select item 3156852	NM_001015055.2(RTKN):c.310C>T (p.Arg104Trp)	RTKN (R104W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496049	NM_001015055.2(RTKN):c.266T>C (p.Leu89Pro)	RTKN (L89P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212976	NM_001015055.2(RTKN):c.256A>G (p.Met86Val)	RTKN (M36V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329316	NM_001015055.2(RTKN):c.212C>T (p.Ala71Val)	RTKN (A71V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458159	NM_001015055.2(RTKN):c.200A>G (p.Gln67Arg)	RTKN (Q67R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284629	NM_001015055.2(RTKN):c.182C>T (p.Ala61Val)	RTKN (A48V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478092	NM_001015055.2(RTKN):c.141T>G (p.His47Gln)	RTKN (H34Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528128	NM_001015055.2(RTKN):c.137A>G (p.Asp46Gly)	RTKN (D33G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346382	NM_001015055.2(RTKN):c.59T>C (p.Met20Thr)	RTKN (M20T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062659	GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1	ACTG2, ALMS1 +60 more	Copy number loss	not specified	GLikely pathogenic
Select item 2498869	GRCh37/hg19 2p13.1-12(chr2:73716761-75347894)x1	ACTG2, ALMS1 +35 more	Copy number loss	not provided	GUncertain significance
Select item 2427025	NC_000002.11:g.(?_69240632)_(74779761_?)dup	DGUOK, EMX1 +72 more	Duplication	not provided	GUncertain significance
Select item 2425561	NC_000002.11:g.(?_72359356)_(74779761_?)del	INO80B, LBX2 +42 more	Deletion	not provided	GPathogenic
Select item 2424629	NC_000002.11:g.(?_71004499)_(74779761_?)del	ACTG2, ALMS1 +55 more	Deletion	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GPathogenic
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 562678	GRCh37/hg19 2p13.1-11.2(chr2:74527522-89125488)x1	ATOH8, AUP1 +78 more	Copy number loss	not provided	GPathogenic
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
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 442633	GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1	SFTPB, SH2D6 +81 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 61