IGSF22[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 58856	GRCh38/hg38 11p15.1(chr11:17905089-19674505)x1	CSRP3, CSRP3-AS1 +86 more	Copy number loss	See cases	GPathogenic
Select item 145597	GRCh38/hg38 11p15.1(chr11:18526222-20748125)x3	CSRP3, CSRP3-AS1 +83 more	Copy number gain	See cases	GUncertain significance
Select item 2609666	NM_173588.4(IGSF22):c.3946G>A (p.Glu1316Lys)	IGSF22, TMEM86A (E1316K)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3108868	NM_173588.4(IGSF22):c.3920A>G (p.Asp1307Gly)	IGSF22, TMEM86A (D1307G)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2385130	NM_173588.4(IGSF22):c.3774G>C (p.Lys1258Asn)	IGSF22 (K1258N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384184	NM_173588.4(IGSF22):c.3742A>G (p.Lys1248Glu)	IGSF22 (K1248E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108867	NM_173588.4(IGSF22):c.3736C>T (p.Leu1246Phe)	IGSF22 (L1246F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108866	NM_173588.4(IGSF22):c.3645C>G (p.Phe1215Leu)	IGSF22 (F1215L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108865	NM_173588.4(IGSF22):c.3637C>A (p.Pro1213Thr)	IGSF22 (P1213T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285653	NM_173588.4(IGSF22):c.3618G>T (p.Lys1206Asn)	IGSF22 (K1206N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274451	NM_173588.4(IGSF22):c.3526G>A (p.Gly1176Ser)	IGSF22, IGSF22-AS1 (G1176S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463229	NM_173588.4(IGSF22):c.3494A>G (p.Tyr1165Cys)	IGSF22, IGSF22-AS1 (Y1165C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1677374	NM_173588.4(IGSF22):c.3482C>G (p.Pro1161Arg)	IGSF22, IGSF22-AS1 (P1161R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2641666	NM_173588.4(IGSF22):c.3448_3450del (p.Phe1150del)	IGSF22, IGSF22-AS1 (F1150del)	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3108864	NM_173588.4(IGSF22):c.3413G>A (p.Ser1138Asn)	IGSF22, IGSF22-AS1 (S1138N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3108863	NM_173588.4(IGSF22):c.3404G>A (p.Arg1135Gln)	IGSF22, IGSF22-AS1 (R1135Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3285648	NM_173588.4(IGSF22):c.3328A>G (p.Asn1110Asp)	IGSF22, IGSF22-AS1 (N1110D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108862	NM_173588.4(IGSF22):c.3304C>A (p.Leu1102Ile)	IGSF22, IGSF22-AS1 (L1102I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285982	NM_173588.4(IGSF22):c.3296C>G (p.Pro1099Arg)	IGSF22, IGSF22-AS1 (P1099R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382509	NM_173588.4(IGSF22):c.3275T>C (p.Val1092Ala)	IGSF22, IGSF22-AS1 (V1092A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285650	NM_173588.4(IGSF22):c.3254G>T (p.Arg1085Leu)	IGSF22, IGSF22-AS1 (R1085L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479971	NM_173588.4(IGSF22):c.3230T>G (p.Leu1077Arg)	IGSF22, IGSF22-AS1 (L1077R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469597	NM_173588.4(IGSF22):c.3199C>T (p.Arg1067Cys)	IGSF22, IGSF22-AS1 (R1067C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108860	NM_173588.4(IGSF22):c.3155C>A (p.Thr1052Asn)	IGSF22, IGSF22-AS1 (T1052N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2641667	NM_173588.4(IGSF22):c.3143G>A (p.Arg1048Gln)	IGSF22, IGSF22-AS1 (R1048Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2454240	NM_173588.4(IGSF22):c.3138G>C (p.Lys1046Asn)	IGSF22, IGSF22-AS1 (K1046N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398168	NM_173588.4(IGSF22):c.3050G>A (p.Arg1017His)	IGSF22, IGSF22-AS1 (R1017H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285652	NM_173588.4(IGSF22):c.3049C>T (p.Arg1017Cys)	IGSF22, IGSF22-AS1 (R1017C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600382	NM_173588.4(IGSF22):c.3041T>C (p.Met1014Thr)	IGSF22, IGSF22-AS1 (M1014T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351503	NM_173588.4(IGSF22):c.3005C>A (p.Pro1002His)	IGSF22, IGSF22-AS1 (P1002H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338832	NM_173588.4(IGSF22):c.2980C>T (p.Arg994Cys)	IGSF22, IGSF22-AS1 (R994C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495440	NM_173588.4(IGSF22):c.2950G>C (p.Gly984Arg)	IGSF22, IGSF22-AS1 (G984R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603904	NM_173588.4(IGSF22):c.2948T>A (p.Val983Asp)	IGSF22, IGSF22-AS1 (V983D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108859	NM_173588.4(IGSF22):c.2891G>T (p.Gly964Val)	IGSF22, IGSF22-AS1 (G964V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277212	NM_173588.4(IGSF22):c.2881A>G (p.Thr961Ala)	IGSF22, IGSF22-AS1 (T961A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108858	NM_173588.4(IGSF22):c.2770C>T (p.Arg924Trp)	IGSF22, IGSF22-AS1 (R924W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108857	NM_173588.4(IGSF22):c.2663G>A (p.Ser888Asn)	IGSF22, IGSF22-AS1 (S888N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108856	NM_173588.4(IGSF22):c.2624G>A (p.Arg875Gln)	IGSF22, IGSF22-AS1 (R875Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594977	NM_173588.4(IGSF22):c.2609C>T (p.Thr870Ile)	IGSF22, IGSF22-AS1 (T870I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220345	NM_173588.4(IGSF22):c.2591A>T (p.Asp864Val)	IGSF22, IGSF22-AS1 (D864V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492685	NM_173588.4(IGSF22):c.2510T>C (p.Ile837Thr)	IGSF22, IGSF22-AS1 (I837T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612420	NM_173588.4(IGSF22):c.2486G>A (p.Gly829Glu)	IGSF22, IGSF22-AS1 (G829E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607835	NM_173588.4(IGSF22):c.2474C>T (p.Pro825Leu)	IGSF22, IGSF22-AS1 (P825L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241345	NM_173588.4(IGSF22):c.2440A>C (p.Thr814Pro)	IGSF22, IGSF22-AS1 (T814P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540249	NM_173588.4(IGSF22):c.2408G>A (p.Gly803Asp)	IGSF22, IGSF22-AS1 (G803D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331914	NM_173588.4(IGSF22):c.2348G>T (p.Gly783Val)	IGSF22, IGSF22-AS1 (G783V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240318	NM_173588.4(IGSF22):c.2323C>T (p.Arg775Cys)	IGSF22, IGSF22-AS1 (R775C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458252	NM_173588.4(IGSF22):c.2280C>A (p.Asn760Lys)	IGSF22, IGSF22-AS1 (N760K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108855	NM_173588.4(IGSF22):c.2209A>T (p.Ile737Leu)	IGSF22, IGSF22-AS1 (I737L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285651	NM_173588.4(IGSF22):c.2186G>A (p.Gly729Asp)	IGSF22, IGSF22-AS1 (G729D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549747	NM_173588.4(IGSF22):c.2134G>A (p.Glu712Lys)	IGSF22, IGSF22-AS1 (E712K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244112	NM_173588.4(IGSF22):c.2117G>T (p.Gly706Val)	IGSF22, IGSF22-AS1 (G706V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382694	NM_173588.4(IGSF22):c.2099G>A (p.Arg700His)	IGSF22, IGSF22-AS1 (R700H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354504	NM_173588.4(IGSF22):c.2023A>C (p.Ser675Arg)	IGSF22, IGSF22-AS1 (S675R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371958	NM_173588.4(IGSF22):c.1975G>A (p.Gly659Arg)	IGSF22, IGSF22-AS1 (G659R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382666	NM_173588.4(IGSF22):c.1957C>T (p.Arg653Cys)	IGSF22, IGSF22-AS1 (R653C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108853	NM_173588.4(IGSF22):c.1907T>C (p.Leu636Pro)	IGSF22, IGSF22-AS1 (L636P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240695	NM_173588.4(IGSF22):c.1894C>T (p.Arg632Trp)	IGSF22, IGSF22-AS1 (R632W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352267	NM_173588.4(IGSF22):c.1889C>T (p.Pro630Leu)	IGSF22, IGSF22-AS1 (P630L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330839	NM_173588.4(IGSF22):c.1888C>T (p.Pro630Ser)	IGSF22, IGSF22-AS1 (P630S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559790	NM_173588.4(IGSF22):c.1885G>T (p.Val629Phe)	IGSF22, IGSF22-AS1 (V629F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480530	NM_173588.4(IGSF22):c.1846G>A (p.Ala616Thr)	IGSF22, IGSF22-AS1 (A616T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334054	NM_173588.4(IGSF22):c.1751C>T (p.Thr584Ile)	IGSF22, IGSF22-AS1 (T584I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285649	NM_173588.4(IGSF22):c.1642A>C (p.Lys548Gln)	IGSF22, IGSF22-AS1 (K548Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593638	NM_173588.4(IGSF22):c.1618G>A (p.Glu540Lys)	IGSF22, IGSF22-AS1 (E540K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588250	NM_173588.4(IGSF22):c.1564G>C (p.Asp522His)	IGSF22, IGSF22-AS1 (D522H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263084	NM_173588.4(IGSF22):c.1564G>A (p.Asp522Asn)	IGSF22, IGSF22-AS1 (D522N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366847	NM_173588.4(IGSF22):c.1535G>A (p.Arg512His)	IGSF22, IGSF22-AS1 (R512H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108852	NM_173588.4(IGSF22):c.1513G>A (p.Ala505Thr)	IGSF22, IGSF22-AS1 (A505T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108851	NM_173588.4(IGSF22):c.1456G>C (p.Gly486Arg)	IGSF22, IGSF22-AS1 (G486R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108850	NM_173588.4(IGSF22):c.1391A>G (p.Tyr464Cys)	IGSF22, IGSF22-AS1 (Y464C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407805	NM_173588.4(IGSF22):c.1310G>A (p.Cys437Tyr)	IGSF22, IGSF22-AS1 (C437Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285644	NM_173588.4(IGSF22):c.1306G>A (p.Ala436Thr)	IGSF22, IGSF22-AS1 (A436T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343960	NM_173588.4(IGSF22):c.1303C>T (p.Arg435Cys)	IGSF22, IGSF22-AS1 (R435C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 769797	NM_173588.4(IGSF22):c.1240= (p.Val414=)	IGSF22, IGSF22-AS1	Variation (no sequence alteration +1 more)	not provided	GBenign
Select item 2527950	NM_173588.4(IGSF22):c.1189G>A (p.Gly397Ser)	IGSF22, IGSF22-AS1 (G397S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343236	NM_173588.4(IGSF22):c.1148C>T (p.Thr383Met)	IGSF22, IGSF22-AS1 (T383M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370738	NM_173588.4(IGSF22):c.1049G>T (p.Arg350Leu)	IGSF22, IGSF22-AS1 (R350L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108849	NM_173588.4(IGSF22):c.1048C>T (p.Arg350Cys)	IGSF22, IGSF22-AS1 (R350C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108874	NM_173588.4(IGSF22):c.950T>C (p.Met317Thr)	IGSF22, IGSF22-AS1 (M317T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108873	NM_173588.4(IGSF22):c.887T>C (p.Val296Ala)	IGSF22, IGSF22-AS1 (V296A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459263	NM_173588.4(IGSF22):c.881T>C (p.Met294Thr)	IGSF22, IGSF22-AS1 (M294T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543100	NM_173588.4(IGSF22):c.853G>T (p.Asp285Tyr)	IGSF22, IGSF22-AS1 (D285Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108872	NM_173588.4(IGSF22):c.835T>A (p.Tyr279Asn)	IGSF22, IGSF22-AS1 (Y279N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622843	NM_173588.4(IGSF22):c.811G>A (p.Gly271Ser)	IGSF22, IGSF22-AS1 (G271S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295448	NM_173588.4(IGSF22):c.802T>C (p.Trp268Arg)	IGSF22, IGSF22-AS1 (W268R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108869	NM_173588.4(IGSF22):c.703C>T (p.Arg235Trp)	IGSF22, IGSF22-AS1 (R235W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596346	NM_173588.4(IGSF22):c.585G>T (p.Leu195Phe)	IGSF22, IGSF22-AS1 (L195F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299542	NM_173588.4(IGSF22):c.544C>G (p.Gln182Glu)	IGSF22, IGSF22-AS1 (Q182E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547663	NM_173588.4(IGSF22):c.208G>T (p.Val70Leu)	IGSF22, IGSF22-AS1 (V70L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285645	NM_173588.4(IGSF22):c.112G>A (p.Glu38Lys)	IGSF22, IGSF22-AS1 (E38K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341224	NM_173588.4(IGSF22):c.103G>A (p.Val35Met)	IGSF22, IGSF22-AS1 (V35M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2641668	NM_173588.4(IGSF22):c.79A>G (p.Thr27Ala)	IGSF22, IGSF22-AS1 (T27A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3108871	NM_173588.4(IGSF22):c.72C>A (p.His24Gln)	IGSF22, IGSF22-AS1 (H24Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108870	NM_173588.4(IGSF22):c.70C>A (p.His24Asn)	IGSF22, IGSF22-AS1 (H24N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285646	NM_173588.4(IGSF22):c.68C>T (p.Thr23Ile)	IGSF22, IGSF22-AS1 (T23I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530676	NM_173588.4(IGSF22):c.41T>C (p.Val14Ala)	IGSF22, IGSF22-AS1 (V14A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108854	NM_173588.4(IGSF22):c.19C>T (p.Arg7Trp)	IGSF22, IGSF22-AS1 (R7W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3244681	NC_000011.9:g.(?_18418390)_(19213995_?)del	CSRP3, IGSF22 +11 more	Deletion	Hypertrophic cardiomyopathy 12 +1 more	GPathogenic

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