56155[geneid] - ClinVar - NCBI

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	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 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 151500	GRCh38/hg38 17q22-23.1(chr17:57418806-59735464)x1	C17orf47, CCDC182 +168 more	Copy number loss	See cases	GPathogenic
Select item 3455483	NM_031272.5(TEX14):c.4343A>T (p.Asp1448Val)	TEX14 (D1488V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176293	NM_031272.5(TEX14):c.4324A>G (p.Ile1442Val)	TEX14 (I1442V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478613	NM_031272.5(TEX14):c.4301G>T (p.Gly1434Val)	TEX14 (G1434V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3455466	NM_031272.5(TEX14):c.4232G>A (p.Arg1411Lys)	TEX14 (R1411K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060778	NM_031272.5(TEX14):c.4227A>G (p.Glu1409=)	TEX14	Single nucleotide variant (synonymous variant)	TEX14-related disorder	GBenign
Select item 3325525	NM_031272.5(TEX14):c.4174G>A (p.Asp1392Asn)	TEX14 (D1392N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059694	NM_031272.5(TEX14):c.4173A>G (p.Lys1391=)	TEX14	Single nucleotide variant (synonymous variant)	TEX14-related disorder	GBenign
Select item 684770	NM_031272.5(TEX14):c.4159G>A (p.Glu1387Lys)	TEX14 (E1387K +2 more)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia	GUncertain significance
Select item 684735	NM_001201457.1:c.4297G>A(;)727C>G	TEX14 (E1387K +4 more)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia	GLikely pathogenic
Select item 3043470	NM_031272.5(TEX14):c.4158-10G>A	TEX14	Single nucleotide variant (intron variant)	TEX14-related disorder	GLikely benign
Select item 779460	NM_031272.5(TEX14):c.4138C>T (p.Leu1380Phe)	TEX14 (L1420F +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2246233	NM_031272.5(TEX14):c.4123G>A (p.Val1375Met)	TEX14 (V1415M +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1244241	NM_031272.5(TEX14):c.4106A>C (p.Gln1369Pro)	TEX14 (Q1369P +2 more)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia	GUncertain significance
Select item 3325529	NM_031272.5(TEX14):c.4078C>G (p.Leu1360Val)	TEX14 (L1406V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176291	NM_031272.5(TEX14):c.4052A>G (p.Glu1351Gly)	TEX14 (E1391G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058843	NM_031272.5(TEX14):c.3963T>C (p.Asn1321=)	TEX14	Single nucleotide variant (synonymous variant)	TEX14-related disorder	GBenign
Select item 2375023	NM_031272.5(TEX14):c.3907G>T (p.Gly1303Cys)	TEX14 (G1303C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176290	NM_031272.5(TEX14):c.3842T>C (p.Ile1281Thr)	TEX14 (I1281T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340993	NM_031272.5(TEX14):c.3824C>T (p.Ala1275Val)	TEX14 (A1275V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 746683	NM_031272.5(TEX14):c.3818-1G>A	TEX14	Single nucleotide variant (splice acceptor variant)	Spermatogenic failure 23 +1 more	GConflicting classifications of pathogenicity
Select item 2570992	NM_031272.5(TEX14):c.3717+7A>G	TEX14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3325533	NM_031272.5(TEX14):c.3713G>T (p.Gly1238Val)	TEX14 (G1238V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368985	NM_031272.5(TEX14):c.3697C>T (p.Pro1233Ser)	TEX14 (P1273S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176289	NM_031272.5(TEX14):c.3665T>C (p.Leu1222Pro)	TEX14 (L1262P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329516	NM_031272.5(TEX14):c.3659A>G (p.Lys1220Arg)	TEX14 (K1220R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2441771	NM_031272.5(TEX14):c.3652A>T (p.Arg1218Ter)	TEX14 (R1218* +2 more)	Single nucleotide variant (nonsense)	Spermatogenic failure 23	GLikely pathogenic
Select item 1244237	NM_031272.5(TEX14):c.3625_3628del (p.Ser1209fs)	TEX14 (S1209fs +2 more)	Deletion (frameshift variant)	Non-obstructive azoospermia	GPathogenic
Select item 2290293	NM_031272.5(TEX14):c.3626C>G (p.Ser1209Cys)	TEX14 (S1209C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1244242	NM_031272.5(TEX14):c.3549C>A (p.Cys1183Ter)	TEX14 (C1183* +2 more)	Single nucleotide variant (nonsense)	Non-obstructive azoospermia	GPathogenic
Select item 1244245	NM_031272.5(TEX14):c.3482_3486del (p.Pro1161fs)	TEX14 (P1161fs +2 more)	Deletion (frameshift variant)	Non-obstructive azoospermia	GPathogenic
Select item 2330482	NM_031272.5(TEX14):c.3475C>T (p.His1159Tyr)	TEX14 (H1159Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455588	NM_031272.5(TEX14):c.3474C>A (p.Asn1158Lys)	TEX14 (N1198K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3455461	NM_031272.5(TEX14):c.3467A>G (p.Lys1156Arg)	TEX14 (K1156R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370974	NM_031272.5(TEX14):c.3467A>C (p.Lys1156Thr)	TEX14 (K1156T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225798	NM_031272.5(TEX14):c.3424G>C (p.Glu1142Gln)	TEX14 (E1188Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568421	NM_031272.5(TEX14):c.3422A>G (p.Tyr1141Cys)	TEX14 (Y1187C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532183	NM_031272.5(TEX14):c.3403G>A (p.Asp1135Asn)	TEX14 (D1175N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295137	NM_031272.5(TEX14):c.3403G>T (p.Asp1135Tyr)	TEX14 (D1135Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024921	NM_031272.5(TEX14):c.3393G>A (p.Thr1131=)	TEX14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2339446	NM_031272.5(TEX14):c.3392C>T (p.Thr1131Met)	TEX14 (T1171M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325521	NM_031272.5(TEX14):c.3377A>G (p.Lys1126Arg)	TEX14 (K1166R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547396	NM_031272.5(TEX14):c.3305T>G (p.Phe1102Cys)	TEX14 (F1142C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371850	NM_031272.5(TEX14):c.3296G>A (p.Arg1099Lys)	TEX14 (R1139K +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3176288	NM_031272.5(TEX14):c.3180T>G (p.Ser1060Arg)	TEX14 (S1100R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161852	NM_031272.5(TEX14):c.3172-1908C>T	TEX14 (S1088L +1 more)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 3061002	NM_031272.5(TEX14):c.3172-1926G>A	TEX14 (G1082D +1 more)	Single nucleotide variant (missense variant +1 more)	TEX14-related disorder	GBenign
Select item 2467176	NM_031272.5(TEX14):c.3172-1927G>A	TEX14 (G1082S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394047	NM_031272.5(TEX14):c.3172-1944A>C	TEX14 (E1082A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274762	NM_031272.5(TEX14):c.3172-1990A>G	TEX14 (M1061V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1244239	NM_031272.5(TEX14):c.3168C>A (p.Tyr1056Ter)	TEX14 (Y1056* +1 more)	Single nucleotide variant (nonsense)	Non-obstructive azoospermia	GPathogenic
Select item 2398547	NM_031272.5(TEX14):c.3130G>A (p.Ala1044Thr)	TEX14 (A1044T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3455482	NM_031272.5(TEX14):c.3052A>G (p.Arg1018Gly)	TEX14 (R1018G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3455481	NM_031272.5(TEX14):c.2992G>A (p.Gly998Ser)	TEX14 (G1004S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176287	NM_031272.5(TEX14):c.2962C>T (p.His988Tyr)	TEX14 (H988Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1244240	NM_031272.5(TEX14):c.2944C>T (p.Gln982Ter)	TEX14 (Q982* +1 more)	Single nucleotide variant (nonsense)	Non-obstructive azoospermia	GPathogenic
Select item 779461	NM_031272.5(TEX14):c.2937G>T (p.Thr979=)	TEX14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2214463	NM_031272.5(TEX14):c.2899G>A (p.Ala967Thr)	TEX14 (A967T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325520	NM_031272.5(TEX14):c.2896G>A (p.Asp966Asn)	TEX14 (D966N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3455480	NM_031272.5(TEX14):c.2893C>G (p.Pro965Ala)	TEX14 (P971A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245834	NM_031272.5(TEX14):c.2893C>A (p.Pro965Thr)	TEX14 (P965T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280296	NM_031272.5(TEX14):c.2878G>A (p.Glu960Lys)	TEX14 (E960K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042476	NM_031272.5(TEX14):c.2877C>T (p.Ser959=)	TEX14	Single nucleotide variant (synonymous variant)	TEX14-related disorder	GLikely benign
Select item 3325518	NM_031272.5(TEX14):c.2834C>T (p.Thr945Ile)	TEX14 (T951I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3455473	NM_031272.5(TEX14):c.2789T>A (p.Met930Lys)	TEX14 (M936K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789231	NM_031272.5(TEX14):c.2789-7T>C	TEX14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3049605	NM_031272.5(TEX14):c.2788+10_2788+11del	TEX14	Deletion (intron variant)	TEX14-related disorder	GLikely benign
Select item 2322332	NM_031272.5(TEX14):c.2669C>T (p.Ser890Phe)	TEX14 (S890F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 440758	NM_031272.5(TEX14):c.2650_2660del (p.Ser884fs)	TEX14 (S890fs +1 more)	Deletion (frameshift variant)	Spermatogenic failure 23	GPathogenic
Select item 3455455	NM_031272.5(TEX14):c.2612A>T (p.Lys871Ile)	TEX14 (K871I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3455469	NM_031272.5(TEX14):c.2600C>T (p.Thr867Ile)	TEX14 (T873I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325530	NM_031272.5(TEX14):c.2579A>T (p.Gln860Leu)	TEX14 (Q860L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3381924	NM_031272.5(TEX14):c.2576+2T>G	TEX14	Single nucleotide variant (splice donor variant)	Spermatogenic failure 23	GUncertain significance
Select item 2313134	NM_031272.5(TEX14):c.2554A>G (p.Ser852Gly)	TEX14 (S858G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325527	NM_031272.5(TEX14):c.2527C>G (p.Gln843Glu)	TEX14 (Q843E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273950	NM_031272.5(TEX14):c.2474C>T (p.Pro825Leu)	TEX14 (P831L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3176285	NM_031272.5(TEX14):c.2462C>G (p.Pro821Arg)	TEX14 (P827R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728624	NM_031272.5(TEX14):c.2448C>T (p.Thr816=)	TEX14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2337357	NM_031272.5(TEX14):c.2447C>T (p.Thr816Ile)	TEX14 (T816I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323903	NM_031272.5(TEX14):c.2425G>C (p.Asp809His)	TEX14 (D809H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176284	NM_031272.5(TEX14):c.2423C>T (p.Pro808Leu)	TEX14 (P814L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2310706	NM_031272.5(TEX14):c.2413G>T (p.Gly805Cys)	TEX14 (G811C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348064	NM_031272.5(TEX14):c.2384A>G (p.Tyr795Cys)	TEX14 (Y795C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325532	NM_031272.5(TEX14):c.2366G>A (p.Gly789Asp)	TEX14 (G795D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273024	NM_031272.5(TEX14):c.2365G>A (p.Gly789Ser)	TEX14 (G789S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060802	NM_031272.5(TEX14):c.2338A>G (p.Asn780Asp)	TEX14 (N780D +1 more)	Single nucleotide variant (missense variant)	TEX14-related disorder	GBenign
Select item 2552395	NM_031272.5(TEX14):c.2327G>C (p.Arg776Thr)	TEX14 (R782T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203821	NM_031272.5(TEX14):c.2308T>C (p.Ser770Pro)	TEX14 (S770P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515044	NM_031272.5(TEX14):c.2303G>A (p.Arg768His)	TEX14 (R768H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2543060	NM_031272.5(TEX14):c.2302C>T (p.Arg768Cys)	TEX14 (R774C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543773	NM_031272.5(TEX14):c.2285A>G (p.Gln762Arg)	TEX14 (Q762R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3350366	NM_031272.5(TEX14):c.2263T>C (p.Leu755=)	TEX14	Single nucleotide variant (synonymous variant)	TEX14-related disorder	GLikely benign
Select item 3038862	NM_031272.5(TEX14):c.2218A>G (p.Ile740Val)	TEX14 (I740V +1 more)	Single nucleotide variant (missense variant)	TEX14-related disorder	GLikely benign
Select item 3455458	NM_031272.5(TEX14):c.2213A>G (p.Gln738Arg)	TEX14 (Q738R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335974	NM_031272.5(TEX14):c.2162C>T (p.Thr721Met)	TEX14 (T721M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2302967	NM_031272.5(TEX14):c.2077T>C (p.Trp693Arg)	TEX14 (W693R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305133	NM_031272.5(TEX14):c.2065T>C (p.Ser689Pro)	TEX14 (S695P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611906	NM_031272.5(TEX14):c.2060A>C (p.Glu687Ala)	TEX14 (E693A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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