C2orf88[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 153288	GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1	ANKAR, ASDURF +312 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 149200	GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1	ANKAR, ASDURF +191 more	Copy number loss	See cases	GPathogenic
Select item 146616	GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1	ANKAR, ANKRD44 +329 more	Copy number loss	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	See cases	GPathogenic
Select item 333215	NM_005259.3(MSTN):c.*1514C>G	C2orf88, MSTN	Single nucleotide variant (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GBenign
Select item 333216	NM_005259.3(MSTN):c.*1450T>C	C2orf88, MSTN	Single nucleotide variant (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GBenign
Select item 333217	NM_005259.3(MSTN):c.*1362A>G	C2orf88, MSTN	Single nucleotide variant (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GBenign
Select item 333218	NM_005259.3(MSTN):c.*1332A>G	C2orf88, MSTN	Single nucleotide variant (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GBenign
Select item 898411	NM_005259.3(MSTN):c.*1316C>G	C2orf88, MSTN	Single nucleotide variant (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GUncertain significance
Select item 898412	NM_005259.3(MSTN):c.*1273C>T	C2orf88, MSTN	Single nucleotide variant (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GUncertain significance
Select item 333219	NM_005259.3(MSTN):c.*1203G>C	C2orf88, MSTN	Single nucleotide variant (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GBenign
Select item 333220	NM_005259.3(MSTN):c.*1145del	C2orf88, MSTN	Deletion (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GLikely benign
Select item 333221	NM_005259.3(MSTN):c.*1073G>T	C2orf88, MSTN	Single nucleotide variant (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GUncertain significance
Select item 895418	NM_005259.3(MSTN):c.*1063A>G	C2orf88, MSTN	Single nucleotide variant (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GUncertain significance
Select item 333222	NM_005259.3(MSTN):c.*923T>C	C2orf88, MSTN	Single nucleotide variant (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GUncertain significance
Select item 895419	NM_005259.3(MSTN):c.*784G>A	C2orf88, MSTN	Single nucleotide variant (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GUncertain significance
Select item 333223	NM_005259.3(MSTN):c.*742C>T	C2orf88, MSTN	Single nucleotide variant (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GBenign
Select item 333224	NM_005259.3(MSTN):c.*697T>C	C2orf88, MSTN	Single nucleotide variant (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GUncertain significance
Select item 895420	NM_005259.3(MSTN):c.*695A>C	C2orf88, MSTN	Single nucleotide variant (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GUncertain significance
Select item 333225	NM_005259.3(MSTN):c.*574G>A	C2orf88, MSTN	Single nucleotide variant (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GLikely benign
Select item 333226	NM_005259.3(MSTN):c.*493G>A	C2orf88, MSTN	Single nucleotide variant (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GBenign
Select item 333227	NM_005259.3(MSTN):c.*395A>C	C2orf88, MSTN	Single nucleotide variant (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GBenign
Select item 896815	NM_005259.3(MSTN):c.*336C>A	C2orf88, MSTN	Single nucleotide variant (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GUncertain significance
Select item 333228	NM_005259.3(MSTN):c.*290C>T	C2orf88, MSTN	Single nucleotide variant (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GBenign
Select item 333229	NM_005259.3(MSTN):c.*273C>G	C2orf88, MSTN	Single nucleotide variant (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GBenign
Select item 333230	NM_005259.3(MSTN):c.*259A>G	C2orf88, MSTN	Single nucleotide variant (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GUncertain significance
Select item 333231	NM_005259.3(MSTN):c.*135G>A	C2orf88, MSTN	Single nucleotide variant (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GBenign
Select item 896816	NM_005259.3(MSTN):c.*127T>C	MSTN, C2orf88	Single nucleotide variant (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GUncertain significance
Select item 333232	NM_005259.3(MSTN):c.*121A>G	C2orf88, MSTN	Single nucleotide variant (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GUncertain significance
Select item 333233	NM_005259.3(MSTN):c.*41G>T	C2orf88, MSTN	Single nucleotide variant (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GLikely benign
Select item 897309	NM_005259.3(MSTN):c.*40G>T	C2orf88, MSTN	Single nucleotide variant (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GBenign
Select item 2380901	NM_005259.3(MSTN):c.1112G>A (p.Arg371His)	C2orf88, MSTN (R371H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212776	NM_005259.3(MSTN):c.1111C>T (p.Arg371Cys)	C2orf88, MSTN (R371C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212775	NM_005259.3(MSTN):c.1101G>A (p.Met367Ile)	C2orf88, MSTN (M367I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 897310	NM_005259.3(MSTN):c.1085G>A (p.Gly362Glu)	C2orf88, MSTN (G362E)	Single nucleotide variant (missense variant)	Myostatin-related muscle hypertrophy	GUncertain significance
Select item 333234	NM_005259.3(MSTN):c.1062T>C (p.Asn354=)	C2orf88, MSTN	Single nucleotide variant (synonymous variant)	Myostatin-related muscle hypertrophy	GLikely benign
Select item 3212803	NM_005259.3(MSTN):c.995C>G (p.Pro332Arg)	C2orf88, MSTN (P332R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484261	NM_005259.3(MSTN):c.916G>A (p.Ala306Thr)	C2orf88, MSTN (A306T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 897311	NM_005259.3(MSTN):c.897C>T (p.Ile299=)	C2orf88, MSTN	Single nucleotide variant (synonymous variant)	Myostatin-related muscle hypertrophy	GUncertain significance
Select item 2329161	NM_005259.3(MSTN):c.881G>C (p.Gly294Ala)	C2orf88, MSTN (G294A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790510	NM_005259.3(MSTN):c.798G>A (p.Arg266=)	C2orf88, MSTN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 897312	NM_005259.3(MSTN):c.796A>C (p.Arg266=)	C2orf88, MSTN	Single nucleotide variant (synonymous variant)	Myostatin-related muscle hypertrophy	GUncertain significance
Select item 333235	NM_005259.3(MSTN):c.748-3C>T	C2orf88, MSTN	Single nucleotide variant (intron variant)	Myostatin-related muscle hypertrophy	GLikely benign
Select item 1285648	NM_005259.3(MSTN):c.748-128C>T	C2orf88, MSTN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 898474	NM_005259.3(MSTN):c.747+8A>G	C2orf88, MSTN	Single nucleotide variant (intron variant)	Myostatin-related muscle hypertrophy +1 more	GBenign/Likely benign
Select item 2386659	NM_005259.3(MSTN):c.739G>A (p.Asp247Asn)	C2orf88, MSTN (D247N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522812	NM_005259.3(MSTN):c.730C>G (p.Pro244Ala)	C2orf88, MSTN (P244A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212795	NM_005259.3(MSTN):c.721T>C (p.Phe241Leu)	C2orf88, MSTN (F241L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337612	NM_005259.3(MSTN):c.701G>A (p.Gly234Asp)	C2orf88, MSTN (G234D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 333236	NM_005259.3(MSTN):c.674T>C (p.Ile225Thr)	C2orf88, MSTN (I225T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2290349	NM_005259.3(MSTN):c.639A>C (p.Gln213His)	C2orf88, MSTN (Q213H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212790	NM_005259.3(MSTN):c.634T>G (p.Leu212Val)	C2orf88, MSTN (L212V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 333237	NM_005259.3(MSTN):c.551C>T (p.Thr184Ile)	C2orf88, MSTN (T184I)	Single nucleotide variant (missense variant)	Myostatin-related muscle hypertrophy	GBenign
Select item 898475	NM_005259.3(MSTN):c.547G>C (p.Gly183Arg)	C2orf88, MSTN (G183R)	Single nucleotide variant (missense variant)	Myostatin-related muscle hypertrophy	GUncertain significance
Select item 3212788	NM_005259.3(MSTN):c.538A>G (p.Met180Val)	C2orf88, MSTN (M180V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375706	NM_005259.3(MSTN):c.529A>C (p.Ile177Leu)	C2orf88, MSTN (I177L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 898476	NM_005259.3(MSTN):c.516A>C (p.Gln172His)	C2orf88, MSTN (Q172H)	Single nucleotide variant (missense variant)	Myostatin-related muscle hypertrophy	GLikely benign
Select item 898477	NM_005259.3(MSTN):c.513G>A (p.Val171=)	C2orf88, MSTN	Single nucleotide variant (synonymous variant)	Myostatin-related muscle hypertrophy	GUncertain significance
Select item 2391062	NM_005259.3(MSTN):c.496C>T (p.Pro166Ser)	C2orf88, MSTN (P166S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 333238	NM_005259.3(MSTN):c.490G>A (p.Glu164Lys)	C2orf88, MSTN (E164K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 333239	NM_005259.3(MSTN):c.466C>A (p.Leu156Ile)	C2orf88, MSTN (L156I)	Single nucleotide variant (missense variant)	Myostatin-related muscle hypertrophy	GLikely benign
Select item 65688	NM_005259.3(MSTN):c.458A>G (p.Lys153Arg)	C2orf88, MSTN (K153R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 895482	NM_005259.3(MSTN):c.453A>G (p.Val151=)	C2orf88, MSTN	Single nucleotide variant (synonymous variant)	Myostatin-related muscle hypertrophy	GUncertain significance
Select item 3212782	NM_005259.3(MSTN):c.406A>C (p.Lys136Gln)	C2orf88, MSTN (K136Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 333240	NM_005259.3(MSTN):c.386T>G (p.Met129Arg)	C2orf88, MSTN (M129R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1258180	NM_005259.3(MSTN):c.374-84A>T	C2orf88, MSTN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181797	NM_005259.3(MSTN):c.374-130G>A	C2orf88, MSTN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182266	NM_005259.3(MSTN):c.373+90del	MSTN, C2orf88	Deletion (intron variant)	not provided	GBenign
Select item 7705	NM_005259.3(MSTN):c.373+5G>A	MSTN, C2orf88	Single nucleotide variant (intron variant)	Myostatin-related muscle hypertrophy	GPathogenic
Select item 333241	NM_005259.3(MSTN):c.306C>T (p.Ser102=)	C2orf88, MSTN	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 333242	NM_005259.3(MSTN):c.263G>A (p.Arg88Gln)	MSTN, C2orf88 (R88Q)	Single nucleotide variant (missense variant)	Myostatin-related muscle hypertrophy +2 more	GConflicting classifications of pathogenicity
Select item 501492	NM_005259.3(MSTN):c.234A>G (p.Arg78=)	C2orf88, MSTN	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3057825	NM_005259.3(MSTN):c.194G>A (p.Arg65His)	C2orf88, MSTN (R65H)	Single nucleotide variant (missense variant)	MSTN-related disorder	GLikely benign
Select item 333243	NM_005259.3(MSTN):c.180C>T (p.Ile60=)	C2orf88, MSTN	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3212779	NM_005259.3(MSTN):c.164C>T (p.Ala55Val)	C2orf88, MSTN (A55V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 65687	NM_005259.3(MSTN):c.163G>A (p.Ala55Thr)	C2orf88, MSTN (A55T)	Single nucleotide variant (missense variant)	MSTN-related disorder +1 more	GBenign
Select item 2651763	NM_005259.3(MSTN):c.150T>C (p.Ser50=)	C2orf88, MSTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 895483	NM_005259.3(MSTN):c.98T>C (p.Val33Ala)	C2orf88, MSTN (V33A)	Single nucleotide variant (missense variant)	Myostatin-related muscle hypertrophy	GUncertain significance
Select item 2400141	NM_005259.3(MSTN):c.89A>C (p.Lys30Thr)	C2orf88, MSTN (K30T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 333244	NM_005259.3(MSTN):c.-17A>C	C2orf88, MSTN	Single nucleotide variant (5 prime UTR variant)	Myostatin-related muscle hypertrophy	GBenign
Select item 333245	NM_005259.3(MSTN):c.-44GAA[1]	C2orf88, MSTN	Microsatellite (5 prime UTR variant)	Myostatin-related muscle hypertrophy	GLikely benign
Select item 896884	NM_005259.3(MSTN):c.-99G>A	C2orf88, MSTN	Single nucleotide variant (5 prime UTR variant)	Myostatin-related muscle hypertrophy	GUncertain significance
Select item 2208107	NM_001042519.2(C2orf88):c.138G>C (p.Glu46Asp)	C2orf88, HIBCH (E46D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2424635	NC_000002.11:g.(?_189839216)_(192012929_?)dup	ANKAR, ASNSD1 +17 more	Duplication	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +2 more	GUncertain significance
Select item 1808483	GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1	ABI2, ADAM23 +107 more	Copy number loss	not provided	GPathogenic
Select item 1808142	GRCh37/hg19 2q32.2(chr2:190819533-191102271)x3	C2orf88, HIBCH +1 more	Copy number gain	not provided	GUncertain significance
Select item 1807826	GRCh37/hg19 2q32.1-33.1(chr2:187152754-199960525)x1	ANKAR, ANKRD44 +48 more	Copy number loss	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1703524	GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	ABI2, ACADL +127 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 979391	GRCh37/hg19 2q32.1-33.1(chr2:188294864-197731939)x3	ANKAR, ASNSD1 +34 more	Copy number gain	not provided	GLikely pathogenic
Select item 977790	GRCh37/hg19 2q32.2-33.1(chr2:190345272-200212289)	OSGEPL1, STAT4 +38 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic

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