33758[HGNC] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 59732	GRCh38/hg38 17q25.1(chr17:73843095-74670538)x3	BTBD17, CD300A +42 more	Copy number gain	See cases	GBenign
Select item 160836	GRCh38/hg38 17q25.1(chr17:73851698-74610813)x3	BTBD17, CD300A +41 more	Copy number gain	See cases	GBenign
Select item 152569	GRCh38/hg38 17q25.1(chr17:73851698-74651858)x3	BTBD17, CD300A +42 more	Copy number gain	See cases	GBenign/Likely benign
Select item 59733	GRCh38/hg38 17q25.1(chr17:73851698-74732123)x3	BTBD17, CD300A +44 more	Copy number gain	See cases	GBenign
Select item 32717	GRCh38/hg38 17q25.1(chr17:73851698-74610813)x3	BTBD17, CD300A +41 more	Copy number gain	See cases	GConflicting classifications of pathogenicity
Select item 145427	GRCh38/hg38 17q25.1(chr17:73851718-74610906)x3	BTBD17, CD300A +41 more	Copy number gain	See cases	GBenign
Select item 150454	GRCh38/hg38 17q25.1(chr17:73967269-74610906)x3	BTBD17, CD300A +39 more	Copy number gain	See cases	GLikely benign
Select item 3250678	NM_001080466.2(BTBD17):c.1419T>C (p.Leu473=)	BTBD17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3250679	NM_001080466.2(BTBD17):c.1410C>T (p.Tyr470=)	BTBD17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3250680	NM_001080466.2(BTBD17):c.1407A>C (p.Val469=)	BTBD17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2407181	NM_001080466.2(BTBD17):c.1405G>A (p.Val469Ile)	BTBD17 (V469I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250681	NM_001080466.2(BTBD17):c.1395C>T (p.Ile465=)	BTBD17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648195	NM_001080466.2(BTBD17):c.1386G>C (p.Leu462=)	BTBD17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3250682	NM_001080466.2(BTBD17):c.1383C>T (p.His461=)	BTBD17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3135386	NM_001080466.2(BTBD17):c.1381C>A (p.His461Asn)	BTBD17 (H461N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648196	NM_001080466.2(BTBD17):c.1374C>T (p.Asn458=)	BTBD17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648197	NM_001080466.2(BTBD17):c.1317C>T (p.Gly439=)	BTBD17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3135385	NM_001080466.2(BTBD17):c.1260G>C (p.Gln420His)	BTBD17 (Q420H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2407333	NM_001080466.2(BTBD17):c.1257G>C (p.Gln419His)	BTBD17 (Q419H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648198	NM_001080466.2(BTBD17):c.1236G>C (p.Thr412=)	BTBD17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3135384	NM_001080466.2(BTBD17):c.1207G>A (p.Asp403Asn)	BTBD17 (D403N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648199	NM_001080466.2(BTBD17):c.1185G>C (p.Val395=)	BTBD17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648200	NM_001080466.2(BTBD17):c.1173G>C (p.Pro391=)	BTBD17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648201	NM_001080466.2(BTBD17):c.1170A>G (p.Arg390=)	BTBD17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2456768	NM_001080466.2(BTBD17):c.1165G>A (p.Gly389Ser)	BTBD17 (G389S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648202	NM_001080466.2(BTBD17):c.1158G>C (p.Pro386=)	BTBD17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648203	NM_001080466.2(BTBD17):c.1152G>A (p.Ala384=)	BTBD17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3135383	NM_001080466.2(BTBD17):c.1150G>A (p.Ala384Thr)	BTBD17 (A384T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218692	NM_001080466.2(BTBD17):c.1148C>T (p.Ala383Val)	BTBD17 (A383V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135381	NM_001080466.2(BTBD17):c.1147G>C (p.Ala383Pro)	BTBD17 (A383P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648204	NM_001080466.2(BTBD17):c.1140T>G (p.Ala380=)	BTBD17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648205	NM_001080466.2(BTBD17):c.1137T>A (p.Thr379=)	BTBD17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648206	NM_001080466.2(BTBD17):c.1116T>C (p.Val372=)	BTBD17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648207	NM_001080466.2(BTBD17):c.1113C>T (p.Pro371=)	BTBD17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3250683	NM_001080466.2(BTBD17):c.1110G>A (p.Arg370=)	BTBD17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648208	NM_001080466.2(BTBD17):c.1101C>A (p.Val367=)	BTBD17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648209	NM_001080466.2(BTBD17):c.1098C>G (p.Pro366=)	BTBD17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648210	NM_001080466.2(BTBD17):c.1086G>A (p.Pro362=)	BTBD17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3135380	NM_001080466.2(BTBD17):c.1048G>T (p.Ala350Ser)	BTBD17 (A350S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648211	NM_001080466.2(BTBD17):c.1038T>C (p.Ser346=)	BTBD17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648212	NM_001080466.2(BTBD17):c.1035G>A (p.Pro345=)	BTBD17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648213	NM_001080466.2(BTBD17):c.1002C>T (p.Asp334=)	BTBD17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3250634	NM_001080466.2(BTBD17):c.957C>T (p.Pro319=)	BTBD17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2359257	NM_001080466.2(BTBD17):c.928G>A (p.Ala310Thr)	BTBD17 (A310T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250684	NM_001080466.2(BTBD17):c.924C>T (p.Gly308=)	BTBD17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648214	NM_001080466.2(BTBD17):c.909C>T (p.Phe303=)	BTBD17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2249700	NM_001080466.2(BTBD17):c.909C>A (p.Phe303Leu)	BTBD17 (F303L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350982	NM_001080466.2(BTBD17):c.902C>T (p.Ala301Val)	BTBD17 (A301V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648215	NM_001080466.2(BTBD17):c.885G>C (p.Ala295=)	BTBD17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2681575	NM_001080466.2(BTBD17):c.882C>T (p.Ala294=)	BTBD17	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 3250685	NM_001080466.2(BTBD17):c.840C>G (p.Pro280=)	BTBD17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3250585	NM_001080466.2(BTBD17):c.819A>C (p.Ala273=)	BTBD17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3250686	NM_001080466.2(BTBD17):c.804G>T (p.Leu268=)	BTBD17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3261995	NM_001080466.2(BTBD17):c.800A>G (p.Gln267Arg)	BTBD17 (Q267R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250795	NM_001080466.2(BTBD17):c.783A>T (p.Pro261=)	BTBD17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2300784	NM_001080466.2(BTBD17):c.772C>G (p.Pro258Ala)	BTBD17 (P258A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250796	NM_001080466.2(BTBD17):c.768C>T (p.Arg256=)	BTBD17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3250797	NM_001080466.2(BTBD17):c.765A>C (p.Ile255=)	BTBD17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3250798	NM_001080466.2(BTBD17):c.750G>C (p.Arg250=)	BTBD17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3250799	NM_001080466.2(BTBD17):c.690G>C (p.Leu230=)	BTBD17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3250586	NM_001080466.2(BTBD17):c.681A>G (p.Glu227=)	BTBD17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3250800	NM_001080466.2(BTBD17):c.678T>C (p.Asp226=)	BTBD17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3250793	NM_001080466.2(BTBD17):c.666G>C (p.Leu222=)	BTBD17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2328243	NM_001080466.2(BTBD17):c.645G>C (p.Gln215His)	BTBD17 (Q215H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250687	NM_001080466.2(BTBD17):c.630C>T (p.Pro210=)	BTBD17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3250587	NM_001080466.2(BTBD17):c.603C>G (p.Ala201=)	BTBD17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3135393	NM_001080466.2(BTBD17):c.556G>C (p.Glu186Gln)	BTBD17 (E186Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135392	NM_001080466.2(BTBD17):c.532G>A (p.Gly178Ser)	BTBD17 (G178S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2648216	NM_001080466.2(BTBD17):c.492A>C (p.Gly164=)	BTBD17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648217	NM_001080466.2(BTBD17):c.471C>T (p.Tyr157=)	BTBD17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648218	NM_001080466.2(BTBD17):c.456C>G (p.Arg152=)	BTBD17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3250688	NM_001080466.2(BTBD17):c.448C>T (p.Leu150=)	BTBD17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2468692	NM_001080466.2(BTBD17):c.389T>C (p.Val130Ala)	BTBD17 (V130A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489945	NM_001080466.2(BTBD17):c.388G>A (p.Val130Met)	BTBD17 (V130M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304899	NM_001080466.2(BTBD17):c.358A>G (p.Ile120Val)	BTBD17 (I120V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608730	NM_001080466.2(BTBD17):c.335G>A (p.Cys112Tyr)	BTBD17 (C112Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387841	NM_001080466.2(BTBD17):c.229G>A (p.Val77Ile)	BTBD17 (V77I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511939	NM_001080466.2(BTBD17):c.203G>A (p.Arg68Gln)	BTBD17 (R68Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327815	NM_001080466.2(BTBD17):c.190G>A (p.Asp64Asn)	BTBD17 (D64N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135388	NM_001080466.2(BTBD17):c.172C>T (p.Arg58Trp)	BTBD17 (R58W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135387	NM_001080466.2(BTBD17):c.159G>T (p.Leu53Phe)	BTBD17 (L53F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459304	NM_001080466.2(BTBD17):c.148C>G (p.Leu50Val)	BTBD17 (L50V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407323	NM_001080466.2(BTBD17):c.107G>A (p.Gly36Glu)	BTBD17 (G36E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135391	NM_001080466.2(BTBD17):c.52A>T (p.Met18Leu)	BTBD17 (M18L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135390	NM_001080466.2(BTBD17):c.20C>G (p.Ser7Cys)	BTBD17 (S7C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1340830	GRCh37/hg19 17q25.1(chr17:71813960-72707349)x3	BTBD17, CD300A +13 more	Copy number gain	not provided	GLikely benign
Select item 815950	GRCh37/hg19 17q25.1(chr17:71811005-72681118)x3	BTBD17, CD300A +12 more	Copy number gain	not provided	GLikely benign
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 625759	GRCh37/hg19 17q24.3-25.1(chr17:70720436-73175266)	BTBD17, ARMC7 +40 more	Copy number gain	not provided	GPathogenic
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic
Select item 564470	GRCh37/hg19 17q25.1(chr17:71810700-72702515)x3	BTBD17, CD300A +13 more	Copy number gain	not provided	GLikely benign
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 393984	GRCh37/hg19 17q25.1(chr17:71940807-72667784)x3	BTBD17, CD300A +12 more	Copy number gain	See cases	GLikely benign

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Items: 100