FAM217A[gene] - ClinVar

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Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +823 more	Copy number gain	See cases	GPathogenic
Select item 58405	GRCh38/hg38 6p25.3-25.1(chr6:107682-4978781)x1	BPHL, C6orf201 +258 more	Copy number loss	See cases	GPathogenic
Select item 58125	GRCh38/hg38 6p25.3-25.1(chr6:144957-5239181)x3	BPHL, C6orf201 +279 more	Copy number gain	See cases	GPathogenic
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC129995555, LOC129995556 +641 more	Copy number gain	See cases	GPathogenic
Select item 154849	GRCh38/hg38 6p25.3-25.1(chr6:152634-6289804)x1	BPHL, C6orf201 +312 more	Copy number loss	See cases	GPathogenic
Select item 149755	GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x1	BPHL, C6orf201 +307 more	Copy number loss	See cases	GPathogenic
Select item 149754	GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x3	BPHL, C6orf201 +307 more	Copy number gain	See cases	GLikely pathogenic
Select item 148422	GRCh38/hg38 6p25.3-25.1(chr6:152634-5315679)x1	BPHL, C6orf201 +287 more	Copy number loss	See cases	GPathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	LOC129995829, LOC129995830 +777 more	Copy number gain	See cases	GPathogenic
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	ADTRP, BLOC1S5 +610 more	Copy number loss	See cases	GPathogenic
Select item 155631	GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3	LOC129995745, LOC129995746 +557 more	Copy number gain	See cases	GLikely pathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ANKRD66, C6orf201 +2580 more	Copy number gain	See cases	GPathogenic
Select item 155308	GRCh38/hg38 6p25.3-25.1(chr6:156974-4946857)x3	BPHL, C6orf201 +255 more	Copy number gain	See cases	GUncertain significance
Select item 154201	GRCh38/hg38 6p25.3-25.1(chr6:156974-4907692)x1	BPHL, C6orf201 +255 more	Copy number loss	See cases	GPathogenic
Select item 154194	GRCh38/hg38 6p25.3-24.3(chr6:156974-7122759)x1	BPHL, C6orf201 +345 more	Copy number loss	See cases	GPathogenic
Select item 154190	GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3	LOC132090751, LOC132090752 +508 more	Copy number gain	See cases	GLikely pathogenic
Select item 147369	GRCh38/hg38 6p25.3-24.3(chr6:163083-9525496)x3	LOC132089486, LOC132089487 +435 more	Copy number gain	See cases	GPathogenic
Select item 58407	GRCh38/hg38 6p25.3-25.1(chr6:163083-5875402)x1	BPHL, C6orf201 +301 more	Copy number loss	See cases	GPathogenic
Select item 57077	GRCh38/hg38 6p25.3-25.1(chr6:163083-6062800)x1	LOC126859561, LOC126859562 +305 more	Copy number loss	See cases	GPathogenic
Select item 144540	GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3	SERPINB9-AS1, SLC22A23 +571 more	Copy number gain	See cases	GPathogenic
Select item 58410	GRCh38/hg38 6p25.3-25.1(chr6:164633-5823601)x1	BPHL, C6orf201 +300 more	Copy number loss	See cases	GPathogenic
Select item 58409	GRCh38/hg38 6p25.3-25.1(chr6:164633-6284237)x1	BPHL, C6orf201 +310 more	Copy number loss	See cases	GPathogenic
Select item 58411	GRCh38/hg38 6p25.3-24.3(chr6:165675-9036034)x1	BLOC1S5, BLOC1S5-TXNDC5 +431 more	Copy number loss	See cases	GPathogenic
Select item 58150	GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3	LOC126859578, LOC126859579 +536 more	Copy number gain	See cases	GPathogenic
Select item 2583165	Single allele	LOC129995619, LOC129995620 +140 more	Inversion	Anophthalmia-microphthalmia syndrome	GLikely pathogenic
Select item 154368	GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1	ADTRP, ATXN1 +617 more	Copy number loss	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 59497	GRCh38/hg38 6p25.2(chr6:3417286-4140023)x3	LOC643327, PRPF4B +31 more	Copy number gain	See cases	GUncertain significance
Select item 145823	GRCh38/hg38 6p25.2(chr6:3876004-4099191)x3	C6orf201, FAM217A +7 more	Copy number gain	See cases	GLikely benign
Select item 2656191	NM_173563.3(FAM217A):c.1507T>C (p.Ser503Pro)	FAM217A (S503P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3092287	NM_173563.3(FAM217A):c.1496A>G (p.Asp499Gly)	FAM217A (D499G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3092286	NM_173563.3(FAM217A):c.1494G>C (p.Lys498Asn)	FAM217A (K498N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092285	NM_173563.3(FAM217A):c.1490C>G (p.Ala497Gly)	FAM217A (A497G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344067	NM_173563.3(FAM217A):c.1475C>T (p.Ser492Leu)	FAM217A (S492L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596635	NM_173563.3(FAM217A):c.1453A>G (p.Ile485Val)	FAM217A (I485V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 146906	GRCh38/hg38 6p25.2-24.1(chr6:4068792-13267799)x1	LOC129995677, LOC129995678 +331 more	Copy number loss	See cases	GPathogenic
Select item 2309752	NM_173563.3(FAM217A):c.1421G>A (p.Arg474Gln)	FAM217A (R474Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3092283	NM_173563.3(FAM217A):c.1397T>G (p.Phe466Cys)	FAM217A (F466C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248005	NM_173563.3(FAM217A):c.1385C>T (p.Pro462Leu)	FAM217A (P462L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614311	NM_173563.3(FAM217A):c.1352T>C (p.Phe451Ser)	FAM217A (F451S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340805	NM_173563.3(FAM217A):c.1304G>A (p.Cys435Tyr)	FAM217A (C435Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092282	NM_173563.3(FAM217A):c.1270A>G (p.Asn424Asp)	FAM217A (N424D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261411	NM_173563.3(FAM217A):c.1265A>G (p.His422Arg)	FAM217A (H422R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092281	NM_173563.3(FAM217A):c.1216T>C (p.Ser406Pro)	FAM217A (S406P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284861	NM_173563.3(FAM217A):c.1187T>C (p.Ile396Thr)	FAM217A (I396T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3092279	NM_173563.3(FAM217A):c.1151T>C (p.Leu384Pro)	FAM217A (L384P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2350576	NM_173563.3(FAM217A):c.1076C>A (p.Ser359Tyr)	FAM217A (S359Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380360	NM_173563.3(FAM217A):c.1026G>C (p.Gln342His)	FAM217A (Q342H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656192	NM_173563.3(FAM217A):c.1020T>G (p.Ser340Arg)	FAM217A (S340R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3092296	NM_173563.3(FAM217A):c.959G>A (p.Arg320Gln)	FAM217A (R320Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491839	NM_173563.3(FAM217A):c.848T>C (p.Val283Ala)	FAM217A (V283A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494119	NM_173563.3(FAM217A):c.836C>A (p.Ala279Glu)	FAM217A (A279E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619082	NM_173563.3(FAM217A):c.698A>T (p.Asn233Ile)	FAM217A (N233I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092295	NM_173563.3(FAM217A):c.652T>C (p.Tyr218His)	FAM217A (Y218H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345378	NM_173563.3(FAM217A):c.651C>A (p.Ser217Arg)	FAM217A (S217R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345377	NM_173563.3(FAM217A):c.650G>A (p.Ser217Asn)	FAM217A (S217N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602641	NM_173563.3(FAM217A):c.623A>T (p.Asn208Ile)	FAM217A (N208I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092294	NM_173563.3(FAM217A):c.518T>C (p.Ile173Thr)	FAM217A (I173T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092293	NM_173563.3(FAM217A):c.511T>A (p.Ser171Thr)	FAM217A (S171T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092292	NM_173563.3(FAM217A):c.437C>T (p.Pro146Leu)	FAM217A (P146L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092291	NM_173563.3(FAM217A):c.425G>A (p.Gly142Glu)	FAM217A (G142E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207456	NM_173563.3(FAM217A):c.386C>T (p.Thr129Ile)	FAM217A (T129I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656193	NM_173563.3(FAM217A):c.378C>T (p.His126=)	FAM217A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2224006	NM_173563.3(FAM217A):c.376C>T (p.His126Tyr)	FAM217A (H126Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216866	NM_173563.3(FAM217A):c.360G>T (p.Arg120Ser)	FAM217A (R120S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473009	NM_173563.3(FAM217A):c.343A>G (p.Ile115Val)	FAM217A (I115V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092290	NM_173563.3(FAM217A):c.313A>C (p.Lys105Gln)	FAM217A (K105Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532790	NM_173563.3(FAM217A):c.309C>A (p.Phe103Leu)	FAM217A (F103L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092289	NM_173563.3(FAM217A):c.307T>A (p.Phe103Ile)	FAM217A (F103I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092288	NM_173563.3(FAM217A):c.218G>C (p.Ser73Thr)	FAM217A (S73T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2656194	NM_173563.3(FAM217A):c.210G>C (p.Ser70=)	FAM217A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2228412	NM_173563.3(FAM217A):c.94C>T (p.Pro32Ser)	FAM217A (P32S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382355	NM_173563.3(FAM217A):c.38G>A (p.Arg13His)	FAM217A (R13H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548380	NM_173563.3(FAM217A):c.30C>G (p.Asn10Lys)	FAM217A (N10K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207825	NM_173563.3(FAM217A):c.4G>A (p.Gly2Arg)	FAM217A (G2R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062932	GRCh37/hg19 6p25.3-25.1(chr6:156974-4338899)x1	BPHL, C6orf201 +25 more	Copy number loss	not specified	GPathogenic
Select item 2684439	GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3	ADTRP, BLOC1S5 +73 more	Copy number gain	not provided	GPathogenic
Select item 1810398	GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3	ADTRP, ATXN1 +89 more	Copy number gain	See cases	GPathogenic
Select item 687409	GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3	ADTRP, ATXN1 +95 more	Copy number gain	not provided	GPathogenic
Select item 563144	GRCh37/hg19 6p25.3-24.3(chr6:1860928-8884071)x3	BLOC1S5, BMP6 +38 more	Copy number gain	not provided	GLikely pathogenic
Select item 563140	GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3	ADTRP, ATXN1 +93 more	Copy number gain	not provided	GPathogenic
Select item 563139	GRCh37/hg19 6p25.3-23(chr6:156974-13502033)x3	ADTRP, BLOC1S5 +66 more	Copy number gain	not provided	GPathogenic
Select item 560067	Single allele	ADTRP, ATXN1 +95 more	Duplication	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443199	GRCh37/hg19 6p25.3-25.2(chr6:383951-4183288)x1	BPHL, C6orf201 +24 more	Copy number loss	See cases	GPathogenic
Select item 442393	GRCh37/hg19 6p25.3-25.1(chr6:156974-6417749)x1	BPHL, C6orf201 +33 more	Copy number loss	See cases	GPathogenic
Select item 442040	GRCh37/hg19 6p25.3-25.1(chr6:2109893-5962832)x1	PXDC1, RIPK1 +24 more	Copy number loss	See cases	GPathogenic
Select item 395567	GRCh37/hg19 6p25.2(chr6:4069563-4088450)x1	C6orf201, FAM217A	Copy number loss	See cases	GLikely benign
Select item 253526	GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3	STMND1, SYCP2L +95 more	Copy number gain	See cases	GPathogenic
Select item 253511	GRCh37/hg19 6p25.3-24.1(chr6:204009-11608587)x1	BLOC1S5, BMP6 +60 more	Copy number loss	See cases	GPathogenic
Select item 253456	GRCh37/hg19 6p25.3-25.1(chr6:204009-6447311)x1	PPP1R3G, BPHL +33 more	Copy number loss	See cases	GPathogenic

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Items: 92