ClinVar for Gene (Select 6242) - ClinVar

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Links from Gene

Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315638	NM_001015055.2(RTKN):c.1399A>G (p.Ile467Val)	RTKN (I417V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315637	NM_001015055.2(RTKN):c.1018T>G (p.Phe340Val)	RTKN (F327V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315636	NM_001015055.2(RTKN):c.1118A>C (p.Gln373Pro)	RTKN (Q323P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315634	NM_001015055.2(RTKN):c.1099C>T (p.Arg367Trp)	RTKN (R354W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315633	NM_001015055.2(RTKN):c.896G>A (p.Arg299His)	RTKN (R286H +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 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 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 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 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 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 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 3062659	GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1	ACTG2, ALMS1 +60 more	Copy number loss	not specified	GLikely pathogenic
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 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 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 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 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 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 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 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 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 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 2498869	GRCh37/hg19 2p13.1-12(chr2:73716761-75347894)x1	CCDC142, DCTN1 +35 more	Copy number loss	not provided	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 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 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 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 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 2427025	NC_000002.11:g.(?_69240632)_(74779761_?)dup	AAK1, ACTG2 +72 more	Duplication	not provided	GUncertain significance
Select item 2425561	NC_000002.11:g.(?_72359356)_(74779761_?)del	ACTG2, ALMS1 +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 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 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 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 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 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 2346382	NM_001015055.2(RTKN):c.59T>C (p.Met20Thr)	RTKN (M20T)	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 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 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 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 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 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 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 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 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 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 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 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 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 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 774831	NM_001015055.2(RTKN):c.334G>A (p.Ala112Thr)	RTKN (A62T +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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
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 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	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 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 66