RFTN2[gene] - ClinVar

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

Search results

Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 146616	GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1	ANKAR, ANKRD44 +329 more	Copy number loss	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57395	GRCh38/hg38 2q32.3-33.1(chr2:194515159-198545937)x1	ANKRD44, ANKRD44-AS1 +118 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146015	GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1	ABI2, ALS2 +279 more	Copy number loss	See cases	GPathogenic
Select item 154446	GRCh38/hg38 2q33.1(chr2:197125460-199741748)x1	LOC129935350, LOC129935351 +69 more	Copy number loss	See cases	GPathogenic
Select item 146362	GRCh38/hg38 2q33.1(chr2:197400023-202089348)x1	ALS2, AOX1 +145 more	Copy number loss	See cases	GLikely pathogenic
Select item 3313902	NM_144629.3(RFTN2):c.1490A>G (p.Gln497Arg)	RFTN2 (Q497R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610509	NM_144629.3(RFTN2):c.1481G>C (p.Gly494Ala)	RFTN2 (G494A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313899	NM_144629.3(RFTN2):c.1459G>A (p.Gly487Arg)	RFTN2 (G487R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153434	NM_144629.3(RFTN2):c.1438G>A (p.Val480Ile)	RFTN2 (V480I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366852	NM_144629.3(RFTN2):c.1409G>T (p.Ser470Ile)	RFTN2 (S470I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244480	NM_144629.3(RFTN2):c.1407C>G (p.Asn469Lys)	RFTN2 (N469K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153433	NM_144629.3(RFTN2):c.1402C>T (p.His468Tyr)	RFTN2 (H468Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2384812	NM_144629.3(RFTN2):c.1352G>A (p.Arg451His)	RFTN2 (R451H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313897	NM_144629.3(RFTN2):c.1351C>T (p.Arg451Cys)	RFTN2 (R451C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313896	NM_144629.3(RFTN2):c.1312T>C (p.Ser438Pro)	RFTN2 (S438P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471244	NM_144629.3(RFTN2):c.1304C>T (p.Thr435Ile)	RFTN2 (T435I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248715	NM_144629.3(RFTN2):c.1283G>A (p.Ser428Asn)	RFTN2 (S428N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153432	NM_144629.3(RFTN2):c.1249C>T (p.His417Tyr)	RFTN2 (H417Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592186	NM_144629.3(RFTN2):c.1246C>T (p.Arg416Cys)	RFTN2 (R416C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324998	NM_144629.3(RFTN2):c.1206G>A (p.Met402Ile)	RFTN2 (M402I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556323	NM_144629.3(RFTN2):c.1183G>A (p.Val395Ile)	RFTN2 (V395I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153431	NM_144629.3(RFTN2):c.1145G>C (p.Arg382Thr)	RFTN2 (R382T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459090	NM_144629.3(RFTN2):c.1129C>G (p.Pro377Ala)	RFTN2 (P377A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313895	NM_144629.3(RFTN2):c.1024G>A (p.Val342Ile)	RFTN2 (V342I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313901	NM_144629.3(RFTN2):c.1001G>A (p.Ser334Asn)	RFTN2 (S334N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153439	NM_144629.3(RFTN2):c.934C>T (p.His312Tyr)	RFTN2 (H312Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153438	NM_144629.3(RFTN2):c.694T>C (p.Ser232Pro)	RFTN2 (S232P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515876	NM_144629.3(RFTN2):c.649C>A (p.His217Asn)	RFTN2 (H217N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250836	NM_144629.3(RFTN2):c.636G>C (p.Glu212Asp)	RFTN2 (E212D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339060	NM_144629.3(RFTN2):c.550C>G (p.Leu184Val)	RFTN2 (L184V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526186	NM_144629.3(RFTN2):c.445G>A (p.Val149Ile)	RFTN2 (V149I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605304	NM_144629.3(RFTN2):c.374T>A (p.Ile125Asn)	RFTN2 (I125N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298662	NM_144629.3(RFTN2):c.359G>A (p.Arg120His)	RFTN2 (R120H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153437	NM_144629.3(RFTN2):c.340G>T (p.Ala114Ser)	RFTN2 (A114S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153436	NM_144629.3(RFTN2):c.324C>G (p.Ser108Arg)	RFTN2 (S108R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392903	NM_144629.3(RFTN2):c.311G>A (p.Arg104His)	RFTN2 (R104H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313900	NM_144629.3(RFTN2):c.196G>A (p.Val66Met)	RFTN2 (V66M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296389	NM_144629.3(RFTN2):c.182A>G (p.Asp61Gly)	RFTN2 (D61G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313898	NM_144629.3(RFTN2):c.8G>A (p.Cys3Tyr)	RFTN2 (C3Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062594	GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1	ABI2, ACADL +95 more	Copy number loss	not specified	GPathogenic
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 1809117	GRCh37/hg19 2q33.1(chr2:198526013-198630600)x3	BOLL, MARS2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1808483	GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1	ABI2, ADAM23 +107 more	Copy number loss	not provided	GPathogenic
Select item 1808369	GRCh37/hg19 2q33.1(chr2:197704153-198552092)x3	ANKRD44, COQ10B +6 more	Copy number gain	not provided	GUncertain significance
Select item 1807826	GRCh37/hg19 2q32.1-33.1(chr2:187152754-199960525)x1	ANKAR, ANKRD44 +48 more	Copy number loss	not provided	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 1703524	GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	ABI2, ACADL +127 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1526941	GRCh37/hg19 2q33.1(chr2:198057503-198461454)	ANKRD44, COQ10B +5 more	Copy number gain	not specified	GUncertain significance
Select item 1526940	GRCh37/hg19 2q33.1(chr2:197586481-200793870)	ANKRD44, BOLL +16 more	Copy number loss	not specified	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 983310	GRCh37/hg19 2q32.3-33.1(chr2:197359024-201383462)x1	PGAP1, PLCL1 +20 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 977790	GRCh37/hg19 2q32.2-33.1(chr2:190345272-200212289)	OSGEPL1, STAT4 +38 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 689171	GRCh37/hg19 2q32.3-33.1(chr2:195786723-200531127)x1	ANKRD44, BOLL +17 more	Copy number loss	not provided	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 562676	GRCh37/hg19 2q32.2-33.1(chr2:191750202-202297376)x1	ANKRD44, AOX1 +45 more	Copy number loss	not provided	GPathogenic
Select item 562673	GRCh37/hg19 2q32.3-33.1(chr2:193537927-202027736)x1	HSPD1, DNAH7 +34 more	Copy number loss	not provided	GPathogenic
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 394652	GRCh37/hg19 2q32.3-33.1(chr2:194581315-201752422)x1	ANKRD44, AOX1 +28 more	Copy number loss	See cases	GPathogenic
Select item 253668	GRCh37/hg19 2q32.3-33.1(chr2:196581377-200947041)x1	C2orf66, BOLL +21 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: 71