POM121[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 154461	GRCh38/hg38 7q11.21-11.23(chr7:62736364-75432710)x1	LOC129998564, LOC129998565 +351 more	Copy number loss	See cases	GPathogenic
Select item 154104	GRCh38/hg38 7q11.21-11.23(chr7:62977085-75415352)x3	ABHD11, ABHD11-AS1 +350 more	Copy number gain	See cases	GPathogenic
Select item 58552	GRCh38/hg38 7q11.22-11.23(chr7:68668307-73710276)x1	AUTS2, BAZ1B +117 more	Copy number loss	See cases	GPathogenic
Select item 60237	GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1	SPDYE12, SPDYE13 +330 more	Copy number loss	See cases	GPathogenic
Select item 150043	GRCh38/hg38 7q11.22-11.23(chr7:71148562-72895414)x1	CALN1, GALNT17 +18 more	Copy number loss	See cases	GUncertain significance
Select item 57096	GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1	ABHD11, ABHD11-AS1 +317 more	Copy number loss	See cases	GPathogenic
Select item 146545	GRCh38/hg38 7q11.22-11.23(chr7:71461127-73614730)x1	BAZ1B, BCL7B +49 more	Copy number loss	See cases	GPathogenic
Select item 155277	GRCh38/hg38 7q11.22-11.23(chr7:71478043-73444574)x1	BAZ1B, CALN1 +34 more	Copy number loss	See cases	GUncertain significance
Select item 155387	GRCh38/hg38 7q11.22-21.11(chr7:72179092-79164071)	ABHD11, ABHD11-AS1 +285 more	Copy number gain	See cases	GLikely pathogenic
Select item 58217	GRCh38/hg38 7q11.22-11.23(chr7:72649515-75361855)x3	ABHD11, ABHD11-AS1 +162 more	Copy number gain	See cases	GPathogenic
Select item 58218	GRCh38/hg38 7q11.23(chr7:72768821-74869255)x3	ABHD11, ABHD11-AS1 +147 more	Copy number gain	See cases	GPathogenic
Select item 2657544	NM_001387691.1(POM121):c.7C>T (p.Pro3Ser)	POM121 (P3S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3216645	NM_001387691.1(POM121):c.809C>G (p.Pro270Arg)	LOC126860071, POM121 (P270R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216652	NM_001387691.1(POM121):c.815C>G (p.Thr272Ser)	LOC126860071, POM121 (T7S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294949	NM_001387691.1(POM121):c.832C>T (p.Pro278Ser)	LOC126860071, POM121 (P13S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299228	NM_001387691.1(POM121):c.846T>G (p.Phe282Leu)	LOC126860071, POM121 (F282L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3308869	NM_001387691.1(POM121):c.907G>A (p.Ala303Thr)	LOC126860071, POM121 (A303T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226037	NM_001387691.1(POM121):c.919T>C (p.Cys307Arg)	LOC126860071, POM121 (C307R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277319	NM_001387691.1(POM121):c.982G>A (p.Glu328Lys)	LOC126860071, POM121 (E328K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358993	NM_001387691.1(POM121):c.1002T>A (p.Asp334Glu)	LOC126860071, POM121 (D334E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294905	NM_001387691.1(POM121):c.1019G>T (p.Arg340Ile)	LOC126860071, POM121 (R340I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216654	NM_001387691.1(POM121):c.1023G>A (p.Arg341=)	POM121	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3216664	NM_001387691.1(POM121):c.1088C>A (p.Ala363Asp)	POM121 (A363D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399896	NM_001387691.1(POM121):c.1109G>C (p.Gly370Ala)	POM121 (G370A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256796	NM_001387691.1(POM121):c.1187C>G (p.Ser396Cys)	POM121 (S131C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216665	NM_001387691.1(POM121):c.1225A>G (p.Ser409Gly)	POM121 (S144G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 57313	GRCh38/hg38 7q11.23(chr7:72930548-74869255)x1	ABHD11, ABHD11-AS1 +141 more	Copy number loss	See cases	GPathogenic
Select item 147066	GRCh38/hg38 7q11.23(chr7:72938064-74779028)x3	ABHD11, ABHD11-AS1 +140 more	Copy number gain	See cases	GPathogenic
Select item 3308871	NM_001387691.1(POM121):c.1279T>C (p.Trp427Arg)	POM121 (W162R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374432	NM_001387691.1(POM121):c.1330C>T (p.Arg444Cys)	POM121 (R179C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524618	NM_001387691.1(POM121):c.1343C>T (p.Pro448Leu)	POM121 (P183L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 713156	NM_001387691.1(POM121):c.1368-7C>G	POM121	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2218814	NM_001387691.1(POM121):c.1377G>C (p.Glu459Asp)	POM121 (E459D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536903	NM_001387691.1(POM121):c.1405C>G (p.Pro469Ala)	POM121 (P204A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389441	NM_001387691.1(POM121):c.1456C>T (p.Pro486Ser)	POM121 (P221S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216666	NM_001387691.1(POM121):c.1511G>A (p.Arg504His)	POM121 (R239H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272538	NM_001387691.1(POM121):c.1600G>A (p.Glu534Lys)	POM121 (E534K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216667	NM_001387691.1(POM121):c.1730T>G (p.Leu577Arg)	POM121 (L216R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216668	NM_001387691.1(POM121):c.1742C>T (p.Ala581Val)	POM121 (A220V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469630	NM_001387691.1(POM121):c.1751C>T (p.Ser584Phe)	POM121 (S488F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609828	NM_001387691.1(POM121):c.1777A>C (p.Ser593Arg)	POM121 (S232R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216641	NM_001387691.1(POM121):c.1918T>C (p.Ser640Pro)	POM121 (S375P +6 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2657545	NM_001387691.1(POM121):c.1969C>G (p.Pro657Ala)	POM121 (P296A +6 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2312090	NM_001387691.1(POM121):c.2006C>T (p.Ser669Phe)	POM121 (S345F +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390854	NM_001387691.1(POM121):c.2008A>G (p.Met670Val)	POM121 (M611V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216642	NM_001387691.1(POM121):c.2014C>T (p.Pro672Ser)	POM121 (P348S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216643	NM_001387691.1(POM121):c.2123C>A (p.Thr708Lys)	POM121 (T443K +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512501	NM_001387691.1(POM121):c.2127G>C (p.Gln709His)	POM121 (Q348H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384785	NM_001387691.1(POM121):c.2177C>T (p.Pro726Leu)	POM121 (P365L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245141	NM_001387691.1(POM121):c.2184C>G (p.Phe728Leu)	POM121 (F404L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216644	NM_001387691.1(POM121):c.2261C>T (p.Ala754Val)	POM121 (A393V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357713	NM_001387691.1(POM121):c.2498A>G (p.Lys833Arg)	POM121 (K472R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216646	NM_001387691.1(POM121):c.2507T>G (p.Phe836Cys)	POM121 (F577C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657546	NM_001387691.1(POM121):c.2598G>A (p.Ala866=)	POM121	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2540924	NM_001387691.1(POM121):c.2606C>T (p.Ala869Val)	POM121 (A545V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352895	NM_001387691.1(POM121):c.2646C>G (p.Phe882Leu)	POM121 (F558L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216647	NM_001387691.1(POM121):c.2678C>T (p.Thr893Ile)	POM121 (T628I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538584	NM_001387691.1(POM121):c.2680A>G (p.Thr894Ala)	POM121 (T533A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768154	NM_001387691.1(POM121):c.2711A>C (p.His904Pro)	POM121 (H580P +6 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3216648	NM_001387691.1(POM121):c.2719G>A (p.Val907Met)	POM121 (V583M +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216649	NM_001387691.1(POM121):c.2726C>T (p.Thr909Met)	POM121 (T650M +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346334	NM_001387691.1(POM121):c.2743G>A (p.Ala915Thr)	POM121 (A819T +6 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3216650	NM_001387691.1(POM121):c.2749G>A (p.Asp917Asn)	POM121 (D556N +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216651	NM_001387691.1(POM121):c.2852C>T (p.Pro951Leu)	POM121 (P855L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551439	NM_001387691.1(POM121):c.2864G>C (p.Ser955Thr)	POM121 (S631T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274273	NM_001387691.1(POM121):c.2866G>A (p.Ala956Thr)	POM121 (A632T +6 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3308870	NM_001387691.1(POM121):c.2876C>T (p.Pro959Leu)	POM121 (P598L +6 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 769328	NM_001387691.1(POM121):c.2911G>A (p.Ala971Thr)	POM121 (A647T +6 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2617299	NM_001387691.1(POM121):c.2929G>A (p.Gly977Arg)	POM121 (G718R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222765	NM_001387691.1(POM121):c.2954C>T (p.Pro985Leu)	POM121 (P926L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605924	NM_001387691.1(POM121):c.2963C>G (p.Ala988Gly)	POM121 (A664G +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373976	NM_001387691.1(POM121):c.2984T>C (p.Phe995Ser)	POM121 (F634S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385608	NM_001387691.1(POM121):c.2993G>A (p.Gly998Glu)	POM121 (G674E +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352536	NM_001387691.1(POM121):c.3013G>A (p.Ala1005Thr)	POM121 (A644T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216653	NM_001387691.1(POM121):c.3035C>T (p.Pro1012Leu)	POM121 (P747L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254454	NM_001387691.1(POM121):c.3052G>T (p.Val1018Leu)	POM121 (V922L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657547	NM_001387691.1(POM121):c.3060G>A (p.Ala1020=)	POM121	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3216655	NM_001387691.1(POM121):c.3090T>G (p.Phe1030Leu)	POM121 (F669L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393265	NM_001387691.1(POM121):c.3091G>C (p.Gly1031Arg)	POM121 (G935R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284279	NM_001387691.1(POM121):c.3151G>T (p.Ala1051Ser)	POM121 (A727S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291076	NM_001387691.1(POM121):c.3235A>G (p.Thr1079Ala)	POM121 (T718A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216657	NM_001387691.1(POM121):c.3239C>A (p.Ala1080Asp)	POM121 (A1080D +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216658	NM_001387691.1(POM121):c.3251G>A (p.Ser1084Asn)	POM121 (S760N +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216659	NM_001387691.1(POM121):c.3286C>T (p.Pro1096Ser)	POM121 (P735S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606305	NM_001387691.1(POM121):c.3293C>T (p.Thr1098Met)	POM121 (T1039M +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292567	NM_001387691.1(POM121):c.3400A>T (p.Ser1134Cys)	POM121 (S1075C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303533	NM_001387691.1(POM121):c.3464C>G (p.Thr1155Ser)	POM121 (T794S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484342	NM_001387691.1(POM121):c.3488T>C (p.Phe1163Ser)	POM121 (F1067S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593474	NM_001387691.1(POM121):c.3493G>A (p.Val1165Met)	POM121 (V1165M +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308872	NM_001387691.1(POM121):c.3511A>G (p.Ser1171Gly)	POM121 (S1112G +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378842	NM_001387691.1(POM121):c.3535G>A (p.Ala1179Thr)	POM121 (A818T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788730	NM_001387691.1(POM121):c.3543C>A (p.Pro1181=)	POM121	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 719908	NM_001387691.1(POM121):c.3552T>G (p.Gly1184=)	POM121	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3216661	NM_001387691.1(POM121):c.3554T>C (p.Leu1185Pro)	POM121 (L861P +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569985	NM_001387691.1(POM121):c.3574G>T (p.Val1192Leu)	POM121 (V1192L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216662	NM_001387691.1(POM121):c.3659C>T (p.Ala1220Val)	POM121 (A896V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376374	NM_001387691.1(POM121):c.3683C>T (p.Ala1228Val)	POM121 (A969V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512146	NM_001387691.1(POM121):c.3698C>T (p.Pro1233Leu)	POM121 (P1233L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216663	NM_001387691.1(POM121):c.3713G>A (p.Arg1238Gln)	POM121 (R1238Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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