POM121L2[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	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 144210	GRCh38/hg38 6p22.2-22.1(chr6:26280579-28727313)x3	ABT1, BTN1A1 +344 more	Copy number gain	See cases	GUncertain significance
Select item 2537443	NM_033482.4(POM121L2):c.3098A>G (p.Tyr1033Cys)	POM121L2 (Y1033C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308892	NM_033482.4(POM121L2):c.3083G>A (p.Arg1028Gln)	POM121L2 (R1028Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216717	NM_033482.4(POM121L2):c.3040G>A (p.Ala1014Thr)	POM121L2 (A1014T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2371839	NM_033482.4(POM121L2):c.3038G>A (p.Gly1013Asp)	POM121L2 (G1013D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216716	NM_033482.4(POM121L2):c.3007T>A (p.Phe1003Ile)	POM121L2 (F1003I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216715	NM_033482.4(POM121L2):c.2968C>G (p.Pro990Ala)	POM121L2 (P990A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478745	NM_033482.4(POM121L2):c.2905A>G (p.Ile969Val)	POM121L2 (I969V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216714	NM_033482.4(POM121L2):c.2894C>T (p.Thr965Ile)	POM121L2 (T965I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216713	NM_033482.4(POM121L2):c.2885C>T (p.Ala962Val)	POM121L2 (A962V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454238	NM_033482.4(POM121L2):c.2884G>A (p.Ala962Thr)	POM121L2 (A962T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216712	NM_033482.4(POM121L2):c.2876G>A (p.Ser959Asn)	POM121L2 (S959N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224710	NM_033482.4(POM121L2):c.2867G>C (p.Gly956Ala)	POM121L2 (G956A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656313	NM_033482.4(POM121L2):c.2801C>T (p.Pro934Leu)	POM121L2 (P934L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2214860	NM_033482.4(POM121L2):c.2693T>A (p.Met898Lys)	POM121L2 (M898K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617749	NM_033482.4(POM121L2):c.2659C>A (p.Gln887Lys)	POM121L2 (Q887K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308895	NM_033482.4(POM121L2):c.2574T>G (p.Ser858Arg)	POM121L2 (S858R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496541	NM_033482.4(POM121L2):c.2529C>A (p.Ser843Arg)	POM121L2 (S843R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263333	NM_033482.4(POM121L2):c.2375T>C (p.Met792Thr)	POM121L2 (M792T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2602954	NM_033482.4(POM121L2):c.2294C>T (p.Pro765Leu)	POM121L2 (P765L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400914	NM_033482.4(POM121L2):c.2254A>G (p.Ile752Val)	POM121L2 (I752V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317122	NM_033482.4(POM121L2):c.2212T>C (p.Trp738Arg)	POM121L2 (W738R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607960	NM_033482.4(POM121L2):c.2159A>G (p.Asn720Ser)	POM121L2 (N720S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271020	NM_033482.4(POM121L2):c.2026G>A (p.Asp676Asn)	POM121L2 (D676N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399550	NM_033482.4(POM121L2):c.2014G>T (p.Ala672Ser)	POM121L2 (A672S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371974	NM_033482.4(POM121L2):c.2014G>A (p.Ala672Thr)	POM121L2 (A672T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216710	NM_033482.4(POM121L2):c.1995C>A (p.Phe665Leu)	POM121L2 (F665L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216709	NM_033482.4(POM121L2):c.1948A>G (p.Ser650Gly)	POM121L2 (S650G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2274322	NM_033482.4(POM121L2):c.1931G>A (p.Gly644Asp)	POM121L2 (G644D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374747	NM_033482.4(POM121L2):c.1796A>G (p.Lys599Arg)	POM121L2 (K599R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489827	NM_033482.4(POM121L2):c.1789T>G (p.Ser597Ala)	POM121L2 (S597A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509252	NM_033482.4(POM121L2):c.1769C>T (p.Thr590Met)	POM121L2 (T590M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3216708	NM_033482.4(POM121L2):c.1678G>A (p.Ala560Thr)	POM121L2 (A560T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656314	NM_033482.4(POM121L2):c.1644C>T (p.Ser548=)	POM121L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2261019	NM_033482.4(POM121L2):c.1643G>T (p.Ser548Ile)	POM121L2 (S548I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305215	NM_033482.4(POM121L2):c.1615G>A (p.Gly539Arg)	POM121L2 (G539R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402830	NM_033482.4(POM121L2):c.1607C>T (p.Pro536Leu)	POM121L2 (P536L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216705	NM_033482.4(POM121L2):c.1465G>A (p.Ala489Thr)	POM121L2 (A489T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332077	NM_033482.4(POM121L2):c.1385C>T (p.Thr462Ile)	POM121L2 (T462I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313561	NM_033482.4(POM121L2):c.1247G>T (p.Gly416Val)	POM121L2 (G416V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216704	NM_033482.4(POM121L2):c.1189C>G (p.Leu397Val)	POM121L2 (L397V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529610	NM_033482.4(POM121L2):c.1121C>T (p.Pro374Leu)	POM121L2 (P374L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308896	NM_033482.4(POM121L2):c.1115C>T (p.Thr372Ile)	POM121L2 (T372I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207704	NM_033482.4(POM121L2):c.1087G>A (p.Ala363Thr)	POM121L2 (A363T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216703	NM_033482.4(POM121L2):c.1055G>A (p.Gly352Glu)	POM121L2 (G352E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216722	NM_033482.4(POM121L2):c.974C>T (p.Pro325Leu)	POM121L2 (P325L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2386383	NM_033482.4(POM121L2):c.947A>C (p.Gln316Pro)	POM121L2 (Q316P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308894	NM_033482.4(POM121L2):c.880C>T (p.Arg294Trp)	POM121L2 (R294W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216721	NM_033482.4(POM121L2):c.853C>G (p.Pro285Ala)	POM121L2 (P285A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211130	NM_033482.4(POM121L2):c.838G>C (p.Glu280Gln)	POM121L2 (E280Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2538585	NM_033482.4(POM121L2):c.826A>C (p.Ser276Arg)	POM121L2 (S276R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621017	NM_033482.4(POM121L2):c.813G>T (p.Lys271Asn)	POM121L2 (K271N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235461	NM_033482.4(POM121L2):c.632G>A (p.Arg211Lys)	POM121L2 (R211K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225647	NM_033482.4(POM121L2):c.469G>A (p.Glu157Lys)	POM121L2 (E157K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496542	NM_033482.4(POM121L2):c.461G>A (p.Cys154Tyr)	POM121L2 (C154Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216719	NM_033482.4(POM121L2):c.457C>T (p.Pro153Ser)	POM121L2 (P153S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216718	NM_033482.4(POM121L2):c.437C>T (p.Pro146Leu)	POM121L2 (P146L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363315	NM_033482.4(POM121L2):c.352G>A (p.Val118Met)	POM121L2 (V118M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216711	NM_033482.4(POM121L2):c.235T>C (p.Phe79Leu)	POM121L2 (F79L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524982	NM_033482.4(POM121L2):c.210G>C (p.Trp70Cys)	POM121L2 (W70C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216706	NM_033482.4(POM121L2):c.154C>T (p.Arg52Trp)	POM121L2 (R52W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308897	NM_033482.4(POM121L2):c.11T>G (p.Phe4Cys)	POM121L2 (F4C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 686587	GRCh37/hg19 6p22.1(chr6:27209501-27432468)x1	POM121L2, PRSS16 +2 more	Copy number loss	not provided	GUncertain significance
Select item 563170	GRCh37/hg19 6p22.1(chr6:27166564-27432468)x3	ZNF184, ZNF391 +2 more	Copy number gain	not provided	GUncertain significance
Select item 563169	GRCh37/hg19 6p22.2-22.1(chr6:26928203-27344831)x3	H2BC11, H2AC11 +5 more	Copy number gain	not provided	GUncertain significance
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 69