ClinVar for Gene (Select 50628) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3365884	NM_015721.3(GEMIN4):c.2050C>T (p.Arg684Ter)	GEMIN4 (R684*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3361486	NM_015721.3(GEMIN4):c.2534A>G (p.Glu845Gly)	GEMIN4 (E845G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361485	NM_015721.3(GEMIN4):c.219C>G (p.Ile73Met)	GEMIN4 (I73M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3356350	NM_015721.3(GEMIN4):c.469G>A (p.Val157Met)	GEMIN4 (V157M)	Single nucleotide variant (missense variant)	GEMIN4-related disorder	GUncertain significance
Select item 3351672	NM_015721.3(GEMIN4):c.2861_2864del (p.Val954fs)	GEMIN4 (V954fs)	Microsatellite (frameshift variant)	GEMIN4-related disorder	GUncertain significance
Select item 3281196	NM_015721.3(GEMIN4):c.1975T>G (p.Phe659Val)	GEMIN4 (F659V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281195	NM_015721.3(GEMIN4):c.571C>T (p.Pro191Ser)	GEMIN4 (P191S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3281194	NM_015721.3(GEMIN4):c.3115G>C (p.Ala1039Pro)	GEMIN4 (A1039P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281193	NM_015721.3(GEMIN4):c.1651C>T (p.Arg551Cys)	GEMIN4 (R551C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281192	NM_015721.3(GEMIN4):c.2557T>C (p.Phe853Leu)	GEMIN4 (F853L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281191	NM_015721.3(GEMIN4):c.1487A>G (p.Asn496Ser)	GEMIN4 (N496S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281190	NM_015721.3(GEMIN4):c.1039C>T (p.Arg347Trp)	GEMIN4 (R347W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281188	NM_015721.3(GEMIN4):c.3147A>T (p.Gln1049His)	GEMIN4 (Q1049H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281187	NM_015721.3(GEMIN4):c.626C>T (p.Ala209Val)	GEMIN4 (A209V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3281186	NM_015721.3(GEMIN4):c.1268A>G (p.Tyr423Cys)	GEMIN4 (Y423C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243207	NC_000017.10:g.(?_422368)_(708507_?)dup	GEMIN4, GLOD4 +4 more	Duplication	not provided	GUncertain significance
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3099365	NM_015721.3(GEMIN4):c.980G>T (p.Trp327Leu)	GEMIN4 (W327L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099364	NM_015721.3(GEMIN4):c.910T>G (p.Ser304Ala)	GEMIN4 (S304A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099363	NM_015721.3(GEMIN4):c.788C>T (p.Thr263Ile)	GEMIN4 (T263I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099362	NM_015721.3(GEMIN4):c.727C>G (p.Leu243Val)	GEMIN4 (L243V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099361	NM_015721.3(GEMIN4):c.716C>T (p.Ala239Val)	GEMIN4 (A239V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099360	NM_015721.3(GEMIN4):c.661C>T (p.Arg221Cys)	GEMIN4 (R221C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099359	NM_015721.3(GEMIN4):c.547A>G (p.Ser183Gly)	GEMIN4 (S183G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099358	NM_015721.3(GEMIN4):c.433C>A (p.Leu145Met)	GEMIN4 (L145M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099357	NM_015721.3(GEMIN4):c.427C>T (p.Arg143Cys)	GEMIN4 (R143C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099356	NM_015721.3(GEMIN4):c.381G>C (p.Gln127His)	GEMIN4 (Q127H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099355	NM_015721.3(GEMIN4):c.340G>A (p.Glu114Lys)	GEMIN4 (E114K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099354	NM_015721.3(GEMIN4):c.3143G>A (p.Arg1048His)	GEMIN4 (R1048H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099353	NM_015721.3(GEMIN4):c.312C>G (p.Ile104Met)	GEMIN4 (I104M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099352	NM_015721.3(GEMIN4):c.2924C>A (p.Ala975Asp)	GEMIN4 (A975D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099350	NM_015721.3(GEMIN4):c.2512G>A (p.Val838Met)	GEMIN4 (V838M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099349	NM_015721.3(GEMIN4):c.2474C>A (p.Ser825Tyr)	GEMIN4 (S825Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099348	NM_015721.3(GEMIN4):c.2243C>T (p.Ser748Phe)	GEMIN4 (S748F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099347	NM_015721.3(GEMIN4):c.2018T>G (p.Ile673Ser)	GEMIN4 (I673S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099346	NM_015721.3(GEMIN4):c.1831G>A (p.Val611Ile)	GEMIN4 (V611I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099345	NM_015721.3(GEMIN4):c.1802C>G (p.Thr601Ser)	GEMIN4 (T601S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099344	NM_015721.3(GEMIN4):c.1589T>G (p.Phe530Cys)	GEMIN4 (F530C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099343	NM_015721.3(GEMIN4):c.1467C>G (p.Asp489Glu)	GEMIN4 (D489E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099342	NM_015721.3(GEMIN4):c.1335G>C (p.Arg445Ser)	GEMIN4 (R445S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099341	NM_015721.3(GEMIN4):c.1216A>G (p.Ile406Val)	GEMIN4 (I406V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3068098	NM_015721.3(GEMIN4):c.2006_2010del (p.Leu669fs)	GEMIN4 (L669fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	GUncertain significance
Select item 3067496	NM_015721.3(GEMIN4):c.186C>T (p.Pro62=)	GEMIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	not specified	GPathogenic
Select item 3063481	GRCh37/hg19 17p13.3(chr17:141345-699175)x1	GEMIN4, GLOD4 +6 more	Copy number loss	not specified	GPathogenic
Select item 3057158	NM_015721.3(GEMIN4):c.3126C>T (p.Ile1042=)	GEMIN4	Single nucleotide variant (synonymous variant)	GEMIN4-related disorder	GBenign
Select item 3056127	NM_015721.3(GEMIN4):c.974G>A (p.Arg325Gln)	GEMIN4 (R325Q)	Single nucleotide variant (missense variant)	GEMIN4-related disorder	GBenign
Select item 3053747	NM_015721.3(GEMIN4):c.2532G>A (p.Glu844=)	GEMIN4	Single nucleotide variant (synonymous variant)	GEMIN4-related disorder	GLikely benign
Select item 3051829	NM_015721.3(GEMIN4):c.754C>A (p.Leu252Met)	GEMIN4 (L252M)	Single nucleotide variant (missense variant)	GEMIN4-related disorder	GLikely benign
Select item 3051773	NM_015721.3(GEMIN4):c.2436C>G (p.Gly812=)	GEMIN4	Single nucleotide variant (synonymous variant)	GEMIN4-related disorder	GLikely benign
Select item 3051704	NM_015721.3(GEMIN4):c.2835C>A (p.Gly945=)	GEMIN4	Single nucleotide variant (synonymous variant)	GEMIN4-related disorder	GLikely benign
Select item 3051179	NM_015721.3(GEMIN4):c.1523G>A (p.Arg508Gln)	GEMIN4 (R508Q)	Single nucleotide variant (missense variant)	GEMIN4-related disorder	GLikely benign
Select item 3050865	NM_015721.3(GEMIN4):c.54C>T (p.Gly18=)	GEMIN4	Single nucleotide variant (synonymous variant)	GEMIN4-related disorder	GLikely benign
Select item 3048162	NM_015721.3(GEMIN4):c.1227C>T (p.Ala409=)	GEMIN4	Single nucleotide variant (synonymous variant)	GEMIN4-related disorder	GLikely benign
Select item 3040236	NM_015721.3(GEMIN4):c.2319G>A (p.Arg773=)	GEMIN4	Single nucleotide variant (synonymous variant)	GEMIN4-related disorder	GLikely benign
Select item 3039983	NM_015721.3(GEMIN4):c.2832T>C (p.Cys944=)	GEMIN4	Single nucleotide variant (synonymous variant)	GEMIN4-related disorder	GLikely benign
Select item 3039695	NM_015721.3(GEMIN4):c.1902C>T (p.Pro634=)	GEMIN4	Single nucleotide variant (synonymous variant)	GEMIN4-related disorder	GBenign
Select item 3025552	NM_015721.3(GEMIN4):c.1131T>G (p.Ser377=)	GEMIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2817494	NM_015721.3(GEMIN4):c.921dup (p.Leu308fs)	GEMIN4 (L308fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2685590	GRCh37/hg19 17p13.3-13.2(chr17:526-3441645)x1	ABR, ASPA +57 more	Copy number loss	not provided	GPathogenic
Select item 2684827	GRCh37/hg19 17p13.3(chr17:399878-714173)x3	GEMIN4, GLOD4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684825	GRCh37/hg19 17p13.3(chr17:526-2687966)x3	ABR, BHLHA9 +42 more	Copy number gain	not provided	GPathogenic
Select item 2671597	Single allele	ABR, ALOX15 +80 more	Deletion	not provided	GPathogenic
Select item 2647178	NM_015721.3(GEMIN4):c.105A>G (p.Thr35=)	GEMIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647177	NM_015721.3(GEMIN4):c.165G>A (p.Ser55=)	GEMIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647176	NM_015721.3(GEMIN4):c.487G>A (p.Val163Ile)	GEMIN4 (V163I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2647175	NM_015721.3(GEMIN4):c.642C>T (p.Pro214=)	GEMIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647174	NM_015721.3(GEMIN4):c.663C>T (p.Arg221=)	GEMIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647173	NM_015721.3(GEMIN4):c.945G>A (p.Val315=)	GEMIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647172	NM_015721.3(GEMIN4):c.980G>C (p.Trp327Ser)	GEMIN4 (W327S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2647171	NM_015721.3(GEMIN4):c.1074C>T (p.Asn358=)	GEMIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647170	NM_015721.3(GEMIN4):c.1139C>T (p.Ala380Val)	GEMIN4 (A380V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2647169	NM_015721.3(GEMIN4):c.1143G>A (p.Glu381=)	GEMIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647168	NM_015721.3(GEMIN4):c.2424G>A (p.Gly808=)	GEMIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647167	NM_015721.3(GEMIN4):c.2883C>T (p.Gly961=)	GEMIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647166	NM_015721.3(GEMIN4):c.3090C>T (p.His1030=)	GEMIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647165	NM_015721.3(GEMIN4):c.3127G>A (p.Gly1043Ser)	GEMIN4 (G1043S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2631062	NM_015721.3(GEMIN4):c.276G>T (p.Trp92Cys)	GEMIN4 (W92C)	Single nucleotide variant (missense variant)	GEMIN4-related disorder	GUncertain significance
Select item 2629210	NM_015721.3(GEMIN4):c.436G>A (p.Glu146Lys)	GEMIN4 (E146K)	Single nucleotide variant (missense variant)	GEMIN4-related disorder	GUncertain significance
Select item 2613633	NM_015721.3(GEMIN4):c.1739A>C (p.Gln580Pro)	GEMIN4 (Q580P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600541	NM_015721.3(GEMIN4):c.1502G>T (p.Gly501Val)	GEMIN4 (G501V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594875	NM_015721.3(GEMIN4):c.247G>A (p.Val83Met)	GEMIN4 (V83M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2571006	GRCh37/hg19 17p13.3(chr17:65445-695309)x1	GEMIN4, GLOD4 +6 more	Copy number loss	not provided	GUncertain significance
Select item 2570963	NM_015721.3(GEMIN4):c.486C>T (p.Asp162=)	GEMIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2567535	NM_015721.3(GEMIN4):c.1511G>A (p.Arg504His)	GEMIN4 (R504H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2559957	NM_015721.3(GEMIN4):c.2335G>A (p.Glu779Lys)	GEMIN4 (E779K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547656	NM_015721.3(GEMIN4):c.1076C>T (p.Ala359Val)	GEMIN4 (A359V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519665	NM_015721.3(GEMIN4):c.253C>T (p.Pro85Ser)	GEMIN4 (P85S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509840	NM_015721.3(GEMIN4):c.532C>G (p.Leu178Val)	GEMIN4 (L178V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2508674	NM_015721.3(GEMIN4):c.652A>G (p.Met218Val)	GEMIN4 (M218V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2504450	NM_015721.3(GEMIN4):c.856C>T (p.Gln286Ter)	GEMIN4 (Q286*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2488402	NM_015721.3(GEMIN4):c.2649G>C (p.Gln883His)	GEMIN4 (Q883H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475861	NM_015721.3(GEMIN4):c.1320C>G (p.Cys440Trp)	GEMIN4 (C440W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469448	NM_015721.3(GEMIN4):c.1025G>A (p.Ser342Asn)	GEMIN4 (S342N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2461171	NM_015721.3(GEMIN4):c.559C>T (p.His187Tyr)	GEMIN4 (H187Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461072	NM_015721.3(GEMIN4):c.892C>T (p.Arg298Trp)	GEMIN4 (R298W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455239	NM_015721.3(GEMIN4):c.164C>T (p.Ser55Leu)	GEMIN4 (S55L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454667	NM_015721.3(GEMIN4):c.625G>A (p.Ala209Thr)	GEMIN4 (A209T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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