56154[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC129999850, LOC129999851 +1038 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC126860345, LOC126860346 +1103 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC130000150, LOC130000151 +996 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DUSP4, EBF2 +1018 more	Copy number gain	See cases	GPathogenic
Select item 150733	GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	ADAM28, ADAM7 +694 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	ADAM18, ADAM2 +935 more	Copy number gain	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	LOC130000086, LOC130000087 +932 more	Copy number gain	See cases	GPathogenic
Select item 57442	GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3	ADAM28, ADAM7 +663 more	Copy number gain	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC121331299, LOC121331300 +868 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	ADAM18, ADAM2 +927 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC130000305, LOC130000306 +927 more	Copy number gain	See cases	GPathogenic
Select item 59763	GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3	ADAM28, ADAM7 +703 more	Copy number gain	See cases	GPathogenic
Select item 34276	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC130000069, LOC130000070 +868 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	ADAM18, ADAM2 +816 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC130000275, LOC130000276 +927 more	Copy number gain	See cases	GPathogenic
Select item 148997	GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3	ADAM28, ADAM7 +651 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC101929258, LOC101929470 +920 more	Copy number gain	See cases	GPathogenic
Select item 147303	GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	LOC113788273, LOC113788274 +805 more	Copy number gain	See cases	GPathogenic
Select item 57410	GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	LOC129999948, LOC129999949 +855 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +920 more	Copy number gain	See cases	GPathogenic
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000249, LOC130000250 +789 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	TNFRSF10A, TNFRSF10A-DT +920 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	ADAM18, ADAM2 +898 more	Copy number gain	See cases	GPathogenic
Select item 154680	GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1	ADAM28, ADAM7 +532 more	Copy number loss	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 146887	GRCh38/hg38 8p21.2-12(chr8:24910364-31196357)x1	ADRA1A, BNIP3L +259 more	Copy number loss	See cases	GPathogenic
Select item 60359	GRCh38/hg38 8p21.2-12(chr8:24910364-31210737)x1	ADRA1A, BNIP3L +259 more	Copy number loss	See cases	GPathogenic
Select item 149021	GRCh38/hg38 8p21.2-12(chr8:25171103-31750600)x1	LOC124153126, LOC124153127 +257 more	Copy number loss	See cases	GPathogenic
Select item 57237	GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3	ADAM18, ADAM2 +591 more	Copy number gain	See cases	GPathogenic
Select item 147723	GRCh38/hg38 8p12-11.21(chr8:29362097-40231708)x1	ADAM18, ADAM2 +286 more	Copy number loss	See cases	GPathogenic
Select item 57312	GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3	ADAM18, ADAM2 +417 more	Copy number gain	See cases	GPathogenic
Select item 151191	GRCh38/hg38 8p12(chr8:30368765-36421541)x3	DUSP26, FUT10 +83 more	Copy number gain	See cases	GUncertain significance
Select item 753542	NM_001350162.2(TEX15):c.9474G>A (p.Trp3158Ter)	TEX15 (W3158*)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 788821	NM_001350162.2(TEX15):c.9462A>G (p.Pro3154=)	TEX15	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1244246	NM_001350162.2(TEX15):c.9448C>T (p.Arg3150Ter)	TEX15 (R3150*)	Single nucleotide variant (nonsense)	Non-obstructive azoospermia	GUncertain significance
Select item 2261788	NM_001350162.2(TEX15):c.9436T>C (p.Tyr3146His)	TEX15 (Y2763H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176351	NM_001350162.2(TEX15):c.9425C>G (p.Ala3142Gly)	TEX15 (A2759G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770379	NM_001350162.2(TEX15):c.9368C>T (p.Ser3123Phe)	TEX15 (S3123F)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2496388	NM_001350162.2(TEX15):c.9357A>C (p.Gln3119His)	TEX15 (Q3119H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496387	NM_001350162.2(TEX15):c.9356A>T (p.Gln3119Leu)	TEX15 (Q3119L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271484	NM_001350162.2(TEX15):c.9338A>G (p.Asn3113Ser)	TEX15 (N2730S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658519	NM_001350162.2(TEX15):c.9324C>T (p.Gly3108=)	TEX15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2272504	NM_001350162.2(TEX15):c.9323G>T (p.Gly3108Val)	TEX15 (G3108V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283392	NM_001350162.2(TEX15):c.9293C>T (p.Thr3098Ile)	TEX15 (T3098I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176349	NM_001350162.2(TEX15):c.9275T>G (p.Leu3092Arg)	TEX15 (L2709R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325542	NM_001350162.2(TEX15):c.9260C>T (p.Thr3087Ile)	TEX15 (T3087I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176348	NM_001350162.2(TEX15):c.9256G>C (p.Gly3086Arg)	TEX15 (G3086R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 684768	NM_001350162.2(TEX15):c.9223G>A (p.Gly3075Arg)	TEX15 (G3075R)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia +1 more	GConflicting classifications of pathogenicity
Select item 684732	NM_001350162.1:c.9223G>A(;)7118G>A	TEX15 (G3075R +1 more)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia	GUncertain significance
Select item 3325552	NM_001350162.2(TEX15):c.9193A>G (p.Thr3065Ala)	TEX15 (T3065A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379222	NM_001350162.2(TEX15):c.9182A>G (p.Tyr3061Cys)	TEX15 (Y2678C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176347	NM_001350162.2(TEX15):c.9144G>C (p.Gln3048His)	TEX15 (Q3048H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2324334	NM_001350162.2(TEX15):c.9125C>G (p.Ser3042Cys)	TEX15 (S3042C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176346	NM_001350162.2(TEX15):c.9119C>T (p.Pro3040Leu)	TEX15 (P3040L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332662	NM_001350162.2(TEX15):c.9071G>T (p.Cys3024Phe)	TEX15 (C3024F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457900	NM_001350162.2(TEX15):c.9055C>T (p.Leu3019Phe)	TEX15 (L2636F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176344	NM_001350162.2(TEX15):c.9025A>G (p.Met3009Val)	TEX15 (M2626V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176343	NM_001350162.2(TEX15):c.8927A>G (p.His2976Arg)	TEX15 (H2976R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219257	NM_001350162.2(TEX15):c.8924T>A (p.Val2975Glu)	TEX15 (V2975E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383449	NM_001350162.2(TEX15):c.8869A>C (p.Thr2957Pro)	TEX15 (T2957P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288849	NM_001350162.2(TEX15):c.8866C>T (p.Pro2956Ser)	TEX15 (P2956S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040229	NM_001350162.2(TEX15):c.8860C>G (p.Leu2954Val)	TEX15 (L2571V +1 more)	Single nucleotide variant (missense variant)	TEX15-related disorder	GBenign
Select item 777420	NM_001350162.2(TEX15):c.8838T>G (p.Ile2946Met)	TEX15 (I2946M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1801814	NM_001350162.2(TEX15):c.8824A>T (p.Ile2942Phe)	TEX15 (I2559F +1 more)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 2249095	NM_001350162.2(TEX15):c.8815C>T (p.Pro2939Ser)	TEX15 (P2556S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254235	NM_001350162.2(TEX15):c.8807C>T (p.Ser2936Phe)	TEX15 (S2936F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2442309	NM_001350162.2(TEX15):c.8806T>C (p.Ser2936Pro)	TEX15 (S2553P +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 25	GUncertain significance
Select item 2254202	NM_001350162.2(TEX15):c.8795C>T (p.Ser2932Leu)	TEX15 (S2932L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353285	NM_001350162.2(TEX15):c.8753T>G (p.Leu2918Arg)	TEX15 (L2918R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176341	NM_001350162.2(TEX15):c.8713G>A (p.Val2905Ile)	TEX15 (V2522I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2363557	NM_001350162.2(TEX15):c.8689C>T (p.Pro2897Ser)	TEX15 (P2897S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481344	NM_001350162.2(TEX15):c.8638A>T (p.Asn2880Tyr)	TEX15 (N2497Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771877	NM_001350162.2(TEX15):c.8622C>A (p.Ser2874=)	TEX15	Single nucleotide variant (synonymous variant)	TEX15-related disorder +1 more	GBenign/Likely benign
Select item 2206419	NM_001350162.2(TEX15):c.8593A>G (p.Lys2865Glu)	TEX15 (K2482E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275355	NM_001350162.2(TEX15):c.8567A>G (p.His2856Arg)	TEX15 (H2473R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176339	NM_001350162.2(TEX15):c.8565C>G (p.Asp2855Glu)	TEX15 (D2472E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176338	NM_001350162.2(TEX15):c.8522C>T (p.Ala2841Val)	TEX15 (A2841V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622554	NM_001350162.2(TEX15):c.8501A>G (p.Lys2834Arg)	TEX15 (K2451R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333883	NM_001350162.2(TEX15):c.8498A>G (p.Asp2833Gly)	TEX15 (D2450G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325550	NM_001350162.2(TEX15):c.8420A>G (p.His2807Arg)	TEX15 (H2807R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322250	NM_001350162.2(TEX15):c.8414C>T (p.Ser2805Phe)	TEX15 (S2805F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532575	NM_001350162.2(TEX15):c.8384C>T (p.Ser2795Leu)	TEX15 (S2412L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681608	NM_001350162.2(TEX15):c.8373C>T (p.Cys2791=)	TEX15	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2579046	NM_001350162.2(TEX15):c.8371del (p.Cys2791fs)	TEX15 (C2791fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3035454	NM_001350162.2(TEX15):c.8331A>C (p.Leu2777=)	TEX15	Single nucleotide variant (synonymous variant)	TEX15-related disorder	GLikely benign
Select item 3325544	NM_001350162.2(TEX15):c.8319G>A (p.Met2773Ile)	TEX15 (M2773I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176337	NM_001350162.2(TEX15):c.8303C>G (p.Pro2768Arg)	TEX15 (P2385R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603340	NM_001350162.2(TEX15):c.8290A>G (p.Asn2764Asp)	TEX15 (N2764D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3046249	NM_001350162.2(TEX15):c.8222+8T>C	TEX15	Single nucleotide variant (intron variant)	TEX15-related disorder	GBenign
Select item 2541268	NM_001350162.2(TEX15):c.8218C>T (p.Pro2740Ser)	TEX15 (P2740S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1244247	NM_001350162.2(TEX15):c.8197_8198del (p.Glu2733fs)	TEX15 (E2733fs)	Microsatellite (frameshift variant)	Non-obstructive azoospermia	GPathogenic
Select item 2442298	NM_001350162.2(TEX15):c.8164-17G>A	TEX15	Single nucleotide variant (intron variant)	Spermatogenic failure 25	GUncertain significance
Select item 3176336	NM_001350162.2(TEX15):c.8143T>G (p.Ser2715Ala)	TEX15 (S2332A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374930	NM_001350162.2(TEX15):c.8125C>A (p.Gln2709Lys)	TEX15 (Q2326K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 523231	NM_001350162.2(TEX15):c.8083C>T (p.Arg2695Ter)	TEX15 (R2695*)	Single nucleotide variant (nonsense)	Spermatogenic failure 25	GPathogenic

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