CHFR[gene] - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	TRD-GTC2-10, TRD-GTC2-9 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	AACS, ABCB9 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	HNF1A, HNF1A-AS1 +786 more	Copy number gain	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 57448	GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3	AACS, ADGRD1 +412 more	Copy number gain	See cases	GPathogenic
Select item 146222	GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3	AACS, ADGRD1 +408 more	Copy number gain	See cases	GPathogenic
Select item 59847	GRCh38/hg38 12q24.32-24.33(chr12:126403612-133166920)x3	ADGRD1, ADGRD1-AS1 +266 more	Copy number gain	See cases	GPathogenic
Select item 144761	GRCh38/hg38 12q24.33(chr12:131650542-133191400)x1	ANKLE2, CHFR +122 more	Copy number loss	See cases	GPathogenic
Select item 144295	GRCh38/hg38 12q24.33(chr12:132576614-133191400)x1	ZNF84, ZNF84-DT +55 more	Copy number loss	See cases	GPathogenic
Select item 1338835	GRCh38/hg38 12q24.33(chr12:132804406-132944910)	CHFR, CHFR-DT +13 more	Copy number loss	Diaphragmatic hernia	GUncertain significance
Select item 2253169	NM_001161346.2(CHFR):c.1925A>G (p.Asn642Ser)	CHFR (N613S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204246	NM_001161346.2(CHFR):c.1813C>T (p.Arg605Trp)	CHFR (R605W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144306	NM_001161346.2(CHFR):c.1811A>G (p.Tyr604Cys)	CHFR (Y575C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596088	NM_001161346.2(CHFR):c.1759G>A (p.Val587Ile)	CHFR (V598I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341046	NM_001161346.2(CHFR):c.1748C>T (p.Thr583Met)	CHFR (T503M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144305	NM_001161346.2(CHFR):c.1706C>T (p.Ala569Val)	CHFR (A569V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475302	NM_001161346.2(CHFR):c.1702G>T (p.Val568Leu)	CHFR (V568L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471342	NM_001161346.2(CHFR):c.1693G>A (p.Glu565Lys)	CHFR (E536K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399207	NM_001161346.2(CHFR):c.1655T>C (p.Leu552Pro)	CHFR (L552P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343777	NM_001161346.2(CHFR):c.1568C>T (p.Pro523Leu)	CHFR (P523L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144303	NM_001161346.2(CHFR):c.1544C>A (p.Thr515Asn)	CHFR (T486N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725004	NM_001161346.2(CHFR):c.1497G>A (p.Ala499=)	CHFR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2361748	NM_001161346.2(CHFR):c.1496C>T (p.Ala499Val)	CHFR (A510V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355029	NM_001161346.2(CHFR):c.1462G>A (p.Glu488Lys)	CHFR (E408K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487146	NM_001161346.2(CHFR):c.1447C>T (p.Arg483Trp)	CHFR (R454W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 733760	NM_001161346.2(CHFR):c.1416G>A (p.Leu472=)	CHFR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2362008	NM_001161346.2(CHFR):c.1357G>A (p.Val453Ile)	CHFR (V373I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384268	NM_001161346.2(CHFR):c.1343C>T (p.Ala448Val)	CHFR (A368V +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1802254	NM_001161346.2(CHFR):c.1231C>T (p.Gln411Ter)	CHFR (Q331* +3 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3144300	NM_001161346.2(CHFR):c.1118T>G (p.Ile373Ser)	CHFR, LOC126861701 (I293S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546614	NM_001161346.2(CHFR):c.1036C>G (p.Leu346Val)	CHFR, LOC126861701 (L346V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144312	NM_001161346.2(CHFR):c.1000G>A (p.Val334Met)	CHFR, LOC126861701 (V346M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144311	NM_001161346.2(CHFR):c.953C>T (p.Ser318Leu)	CHFR, LOC126861701 (S238L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315507	NM_001161346.2(CHFR):c.866C>T (p.Thr289Met)	CHFR (T209M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302376	NM_001161346.2(CHFR):c.838G>T (p.Ala280Ser)	CHFR (A251S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542302	NM_001161346.2(CHFR):c.820G>A (p.Glu274Lys)	CHFR (E194K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366905	NM_001161346.2(CHFR):c.814G>A (p.Val272Ile)	CHFR (V192I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144310	NM_001161346.2(CHFR):c.797G>A (p.Arg266His)	CHFR (R186H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225070	NM_001161346.2(CHFR):c.796C>G (p.Arg266Gly)	CHFR (R266G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594383	NM_001161346.2(CHFR):c.753T>G (p.Asp251Glu)	CHFR (D171E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144309	NM_001161346.2(CHFR):c.730G>A (p.Val244Met)	CHFR (V244M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144308	NM_001161346.2(CHFR):c.692C>T (p.Ser231Leu)	CHFR (S231L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467637	NM_001161346.2(CHFR):c.589G>T (p.Gly197Trp)	CHFR (G197W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377867	NM_001161346.2(CHFR):c.335C>G (p.Pro112Arg)	CHFR (P112R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344487	NM_001161346.2(CHFR):c.278A>G (p.Gln93Arg)	CHFR (Q93R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495068	NM_001161346.2(CHFR):c.209G>A (p.Gly70Asp)	CHFR (G70D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144304	NM_001161346.2(CHFR):c.157A>G (p.Asn53Asp)	CHFR (N53D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144302	NM_001161346.2(CHFR):c.137G>T (p.Cys46Phe)	CHFR (C46F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144301	NM_001161346.2(CHFR):c.124C>T (p.Arg42Trp)	CHFR (R42W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482741	NM_001161346.2(CHFR):c.91G>A (p.Val31Ile)	CHFR (V31I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272358	NM_001161346.2(CHFR):c.42G>C (p.Gln14His)	CHFR (Q14H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512657	NM_001161346.2(CHFR):c.31C>T (p.Pro11Ser)	CHFR (P11S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144307	NM_001161346.2(CHFR):c.29C>T (p.Ser10Leu)	CHFR (S10L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344889	NM_001161346.2(CHFR):c.23A>G (p.Lys8Arg)	CHFR (K8R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684685	GRCh37/hg19 12q24.31-24.33(chr12:121551496-133777902)x3	AACS, ABCB9 +93 more	Copy number gain	not provided	GPathogenic
Select item 2684684	GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3	AACS, ABCB9 +108 more	Copy number gain	not provided	GPathogenic
Select item 1808265	GRCh37/hg19 12q24.33(chr12:133228857-133455925)x3	ANKLE2, CHFR +4 more	Copy number gain	not provided	GUncertain significance
Select item 1425930	NC_000012.11:g.(?_133236030)_(133676672_?)del	ANKLE2, CHFR +8 more	Deletion	Colorectal cancer, susceptibility to, 12	GPathogenic
Select item 1341278	GRCh37/hg19 12q24.33(chr12:133187500-133592221)x3	ANKLE2, CHFR +7 more	Copy number gain	not provided	GUncertain significance
Select item 1330196	GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	AACS, ABCB9 +135 more	Copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 981004	GRCh37/hg19 12q24.33(chr12:133155089-133455925)x3	ANKLE2, CHFR +7 more	Copy number gain	not provided	GUncertain significance
Select item 981000	GRCh37/hg19 12q24.33(chr12:133417788-133474060)x1	CHFR	Copy number loss	not provided	GLikely benign
Select item 688011	GRCh37/hg19 12q24.32-24.33(chr12:126470636-133777902)x1	ADGRD1, ANKLE2 +32 more	Copy number loss	not provided	GUncertain significance
Select item 687782	GRCh37/hg19 12q24.33(chr12:133318988-133423884)x3	ANKLE2, CHFR +1 more	Copy number gain	not provided	GUncertain significance
Select item 686464	GRCh37/hg19 12q24.33(chr12:132975658-133777902)x1	ANKLE2, CHFR +15 more	Copy number loss	not provided	GUncertain significance
Select item 638102	GRCh37/hg19 12q24.33(chr12:131363916-133777645)x3	EP400, FBRSL1 +23 more	Copy number gain	See cases	GPathogenic
Select item 625819	GRCh37/hg19 12q24.31-24.33(chr12:125451405-133810935)	AACS, ADGRD1 +37 more	Copy number gain	not provided	GPathogenic
Select item 563980	GRCh37/hg19 12q24.33(chr12:130973400-133777902)x3	ZNF10, PGAM5 +26 more	Copy number gain	not provided	GLikely pathogenic
Select item 443093	GRCh37/hg19 12q24.33(chr12:133061680-133510071)x1	ANKLE2, CHFR +8 more	Copy number loss	See cases	GUncertain significance
Select item 442500	GRCh37/hg19 12q24.33(chr12:133046203-133777902)x3	ANKLE2, CHFR +15 more	Copy number gain	See cases	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 441587	GRCh37/hg19 12q24.33(chr12:133187937-133497679)x1	ANKLE2, CHFR +5 more	Copy number loss	See cases	GUncertain significance
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

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Items: 75