GTF2H5[gene] - ClinVar

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Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	LOC129389719, LOC129389720 +866 more	Copy number gain	See cases	GPathogenic
Select item 2663766	NC_000006.12:g.(?_150381239)_(159553952_?)del	LOC129997480, LOC129997522 +288 more	Deletion	Chromosome 6q24-q25 deletion syndrome	GPathogenic
Select item 150766	GRCh38/hg38 6q25.1-25.3(chr6:150381239-159553952)x1	AKAP12, ARID1B +288 more	Copy number loss	See cases	GPathogenic
Select item 2579284	GRCh38/hg38 6q25.1-25.3(chr6:150905553-158511926)x1	AKAP12, ARID1B +208 more	Copy number loss	Coffin-Siris syndrome 1	GPathogenic
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	LOC101929460, LOC102724087 +572 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	LOC129997640, LOC129997641 +564 more	Copy number loss	See cases	GPathogenic
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	ACAT2, AFDN +549 more	Copy number loss	See cases	GPathogenic
Select item 145547	GRCh38/hg38 6q25.2-25.3(chr6:154178964-159020369)x1	ARID1B, CLDN20 +188 more	Copy number loss	See cases	GLikely pathogenic
Select item 148306	GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	IGF2R, KIF25 +540 more	Copy number loss	See cases	GPathogenic
Select item 148765	GRCh38/hg38 6q25.3-26(chr6:155378049-163133499)x1	SOD2, SOD2-OT1 +270 more	Copy number loss	See cases	GPathogenic
Select item 58157	GRCh38/hg38 6q25.3(chr6:157827805-159726548)x3	DYNLT1, EZR +100 more	Copy number gain	See cases	GPathogenic
Select item 1254217	NC_000006.12:g.158168365C>T	GTF2H5, SERAC1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 235648	NM_207118.3(GTF2H5):c.-35+6T>G	GTF2H5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1288642	NM_207118.3(GTF2H5):c.-34-214C>G	GTF2H5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187034	NM_207118.3(GTF2H5):c.-34-204A>C	GTF2H5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270314	NM_207118.3(GTF2H5):c.-34-24A>G	GTF2H5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2136487	NM_207118.3(GTF2H5):c.2T>C (p.Met1Thr)	GTF2H5 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1081851	NM_207118.3(GTF2H5):c.6C>G (p.Val2=)	GTF2H5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900484	NM_207118.3(GTF2H5):c.12C>T (p.Val4=)	GTF2H5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1468201	NM_207118.3(GTF2H5):c.28A>G (p.Ile10Val)	GTF2H5 (I10V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 975160	NM_207118.3(GTF2H5):c.29T>A (p.Ile10Lys)	GTF2H5 (I10K)	Single nucleotide variant (missense variant)	Trichothiodystrophy 3, photosensitive	GPathogenic
Select item 1590635	NM_207118.3(GTF2H5):c.30A>T (p.Ile10=)	GTF2H5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1959475	NM_207118.3(GTF2H5):c.35+8G>T	GTF2H5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234243	NM_207118.3(GTF2H5):c.35+49T>G	GTF2H5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 153297	GRCh38/hg38 6q25.3(chr6:158174555-158762476)x3	DYNLT1, GTF2H5 +30 more	Copy number gain	See cases	GLikely benign
Select item 1260408	NM_207118.3(GTF2H5):c.36-296A>G	GTF2H5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3000883	NM_207118.3(GTF2H5):c.36-18_36-17del	GTF2H5	Deletion (intron variant)	not provided	GLikely benign
Select item 2835656	NM_207118.3(GTF2H5):c.36-14G>A	GTF2H5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 587425	NM_207118.3(GTF2H5):c.36-2A>G	GTF2H5	Single nucleotide variant (splice acceptor variant)	Trichothiodystrophy 3, photosensitive	GLikely pathogenic
Select item 2171995	NM_207118.3(GTF2H5):c.41C>A (p.Pro14His)	GTF2H5 (P14H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1382813	NM_207118.3(GTF2H5):c.43del (p.Ala15fs)	GTF2H5 (A15fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1417697	NM_207118.3(GTF2H5):c.46A>G (p.Met16Val)	GTF2H5 (M16V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 975159	NM_207118.3(GTF2H5):c.49A>T (p.Lys17Ter)	GTF2H5 (K17*)	Single nucleotide variant (nonsense)	Trichothiodystrophy 3, photosensitive	GPathogenic
Select item 2081236	NM_207118.3(GTF2H5):c.55T>C (p.Phe19Leu)	GTF2H5 (F19L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1440226	NM_207118.3(GTF2H5):c.58C>G (p.Leu20Val)	GTF2H5 (L20V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1579243	NM_207118.3(GTF2H5):c.60G>T (p.Leu20=)	GTF2H5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2104	NM_207118.3(GTF2H5):c.62T>C (p.Leu21Pro)	GTF2H5 (L21P)	Single nucleotide variant (missense variant)	Trichothiodystrophy 3, photosensitive	GPathogenic
Select item 2048012	NM_207118.3(GTF2H5):c.70G>A (p.Asp24Asn)	GTF2H5 (D24N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2170032	NM_207118.3(GTF2H5):c.80A>G (p.Asn27Ser)	GTF2H5 (N27S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1969972	NM_207118.3(GTF2H5):c.88G>A (p.Gly30Arg)	GTF2H5 (G30R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2776982	NM_207118.3(GTF2H5):c.90G>A (p.Gly30=)	GTF2H5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1509229	NM_207118.3(GTF2H5):c.100A>G (p.Ile34Val)	GTF2H5 (I34V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1613167	NM_207118.3(GTF2H5):c.108A>G (p.Gln36=)	GTF2H5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2096429	NM_207118.3(GTF2H5):c.110A>T (p.Asp37Val)	GTF2H5 (D37V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1065503	NM_207118.3(GTF2H5):c.116A>T (p.Asp39Val)	GTF2H5 (D39V)	Single nucleotide variant (missense variant)	Trichothiodystrophy 3, photosensitive	GUncertain significance
Select item 1378097	NM_207118.3(GTF2H5):c.118G>A (p.Asp40Asn)	GTF2H5 (D40N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1522370	NM_207118.3(GTF2H5):c.122C>T (p.Thr41Ile)	GTF2H5 (T41I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1365534	NM_207118.3(GTF2H5):c.125A>G (p.His42Arg)	GTF2H5 (H42R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1586616	NM_207118.3(GTF2H5):c.126C>T (p.His42=)	GTF2H5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1495747	NM_207118.3(GTF2H5):c.127G>A (p.Val43Ile)	GTF2H5 (V43I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2865444	NM_207118.3(GTF2H5):c.129C>G (p.Val43=)	GTF2H5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1398322	NM_207118.3(GTF2H5):c.136A>G (p.Ile46Val)	GTF2H5 (I46V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2094940	NM_207118.3(GTF2H5):c.137T>C (p.Ile46Thr)	GTF2H5 (I46T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1419300	NM_207118.3(GTF2H5):c.139G>A (p.Ala47Thr)	GTF2H5 (A47T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1984838	NM_207118.3(GTF2H5):c.141A>G (p.Ala47=)	GTF2H5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1483525	NM_207118.3(GTF2H5):c.144A>T (p.Glu48Asp)	GTF2H5 (E48D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2715342	NM_207118.3(GTF2H5):c.153T>C (p.Asn51=)	GTF2H5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1968310	NM_207118.3(GTF2H5):c.155T>C (p.Val52Ala)	GTF2H5 (V52A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974991	NM_207118.3(GTF2H5):c.159C>T (p.Leu53=)	GTF2H5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 975158	NM_207118.3(GTF2H5):c.163G>T (p.Glu55Ter)	GTF2H5 (E55*)	Single nucleotide variant (nonsense)	Trichothiodystrophy 3, photosensitive	GPathogenic
Select item 2277154	NM_207118.3(GTF2H5):c.164A>C (p.Glu55Ala)	GTF2H5 (E55A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2657084	NM_207118.3(GTF2H5):c.165G>T (p.Glu55Asp)	GTF2H5 (E55D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2103	NM_207118.3(GTF2H5):c.166C>T (p.Arg56Ter)	GTF2H5 (R56*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 1050091	NM_207118.3(GTF2H5):c.167G>A (p.Arg56Gln)	GTF2H5 (R56Q)	Single nucleotide variant (missense variant)	Trichothiodystrophy 3, photosensitive +2 more	GUncertain significance
Select item 3057341	NM_207118.3(GTF2H5):c.171G>A (p.Val57=)	GTF2H5	Single nucleotide variant (synonymous variant)	GTF2H5-related disorder	GLikely benign
Select item 2769913	NM_207118.3(GTF2H5):c.178T>C (p.Leu60=)	GTF2H5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1480904	NM_207118.3(GTF2H5):c.194C>T (p.Ala65Val)	GTF2H5 (A65V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2113587	NM_207118.3(GTF2H5):c.202C>G (p.Leu68Val)	GTF2H5 (L68V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1406568	NM_207118.3(GTF2H5):c.206C>T (p.Thr69Ile)	GTF2H5 (T69I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2749779	NM_207118.3(GTF2H5):c.207C>A (p.Thr69=)	GTF2H5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1259701	NM_207118.3(GTF2H5):c.*198del	GTF2H5	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 3148927	GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1	ACAT2, AFDN +79 more	Copy number loss	See cases	GPathogenic
Select item 2427776	NC_000006.11:g.(?_158591536)_(158591590_?)del	GTF2H5	Deletion	not provided	GPathogenic
Select item 2427078	NC_000006.11:g.(?_158532398)_(162868359_?)del	LPA, MAP3K4 +26 more	Deletion	not provided	GPathogenic
Select item 1708184	GRCh37/hg19 6q25.3-27(chr6:157318401-165233548)x1	MAS1, MRPL18 +33 more	Copy number loss	See cases	GPathogenic
Select item 1527317	GRCh37/hg19 6q25.3(chr6:158392800-159229197)	DYNLT1, EZR +6 more	Copy number gain	not specified	GUncertain significance
Select item 1527310	GRCh37/hg19 6q25.3(chr6:155525920-159889169)	ARID1B, CLDN20 +18 more	Copy number loss	not specified	GPathogenic
Select item 1527308	GRCh37/hg19 6q25.2-26(chr6:153207930-164322346)	ACAT2, AGPAT4 +44 more	Copy number loss	not specified	GPathogenic
Select item 1437902	NC_000006.11:g.(?_158532398)_(160114199_?)dup	DYNLT1, EZR +10 more	Duplication	Primary ciliary dyskinesia 32	GUncertain significance
Select item 1423867	NC_000006.11:g.(?_158591536)_(158613189_?)dup	GTF2H5	Duplication	not provided	GUncertain significance
Select item 1349927	NC_000006.11:g.(?_158612989)_(158613189_?)del	GTF2H5	Deletion	not provided	GLikely pathogenic
Select item 814888	GRCh37/hg19 6q25.3(chr6:158595235-158824107)x3	GTF2H5, TULP4	Copy number gain	not provided	GUncertain significance
Select item 687358	GRCh37/hg19 6q25.3(chr6:157262571-160992289)x3	ACAT2, AIRN +27 more	Copy number gain	not provided	GUncertain significance
Select item 686737	GRCh37/hg19 6q25.3(chr6:158560805-158764786)x1	GTF2H5, SERAC1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 685788	GRCh37/hg19 6q24.3-25.3(chr6:148195086-160127254)x3	AKAP12, ARID1B +58 more	Copy number gain	not provided	GPathogenic
Select item 685045	GRCh37/hg19 6q25.2-25.3(chr6:155426680-158863541)x3	TIAM2, TMEM242 +10 more	Copy number gain	not provided	GUncertain significance
Select item 561258	46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn	FNDC1, FRMD1 +86 more	Complex	Coffin-Siris syndrome 1	GPathogenic
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
Select item 394997	GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3	ACAT2, AFDN +87 more	Copy number gain	See cases	GPathogenic

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Items: 91