54664[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 more	Copy number gain	See cases	GPathogenic
Select item 58518	GRCh38/hg38 7p21.3-21.1(chr7:9975653-19356878)x1	AGMO, AGR2 +130 more	Copy number loss	See cases	GPathogenic
Select item 154641	GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1	LOC129998072, LOC129998073 +331 more	Copy number loss	See cases	GPathogenic
Select item 154585	GRCh38/hg38 7p21.3-21.2(chr7:11122492-16479303)x1	AGMO, ARL4A +62 more	Copy number loss	See cases	GPathogenic
Select item 153127	GRCh38/hg38 7p21.3(chr7:11181583-12423003)x3	LOC123924901, LOC123924902 +11 more	Copy number gain	See cases	GUncertain significance
Select item 147919	GRCh38/hg38 7p21.3(chr7:12109334-12653407)x3	C7orf78, LOC123924902 +13 more	Copy number gain	See cases	GBenign
Select item 1920816	NM_001134232.2(TMEM106B):c.11C>G (p.Ser4Cys)	TMEM106B (S4C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2919729	NM_001134232.2(TMEM106B):c.15T>G (p.Leu5=)	TMEM106B	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2338213	NM_001134232.2(TMEM106B):c.31C>T (p.His11Tyr)	TMEM106B (H11Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2013038	NM_001134232.2(TMEM106B):c.37A>G (p.Ser13Gly)	TMEM106B (S13G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2117084	NM_001134232.2(TMEM106B):c.54T>C (p.Tyr18=)	TMEM106B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1028107	NM_001134232.2(TMEM106B):c.55G>C (p.Asp19His)	TMEM106B (D19H)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 16	GUncertain significance
Select item 2607400	NM_001134232.2(TMEM106B):c.72A>C (p.Glu24Asp)	TMEM106B (E24D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1423461	NM_001134232.2(TMEM106B):c.76A>G (p.Met26Val)	TMEM106B (M26V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2340516	NM_001134232.2(TMEM106B):c.91G>C (p.Val31Leu)	TMEM106B (V31L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3358225	NM_001134232.2(TMEM106B):c.94A>G (p.Asn32Asp)	TMEM106B (N32D)	Single nucleotide variant (missense variant)	TMEM106B-related disorder	GUncertain significance
Select item 709830	NM_001134232.2(TMEM106B):c.102A>G (p.Glu34=)	TMEM106B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2621147	NM_001134232.2(TMEM106B):c.109A>G (p.Asn37Asp)	TMEM106B (N37D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 872951	NM_001134232.2(TMEM106B):c.115G>C (p.Asp39His)	TMEM106B (D39H)	Single nucleotide variant (missense variant)	Vascular dementia	GUncertain significance
Select item 735612	NM_001134232.2(TMEM106B):c.116A>T (p.Asp39Val)	TMEM106B (D39V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2221734	NM_001134232.2(TMEM106B):c.119G>C (p.Gly40Ala)	TMEM106B (G40A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2980157	NM_001134232.2(TMEM106B):c.128G>A (p.Gly43Glu)	TMEM106B (G43E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1989415	NM_001134232.2(TMEM106B):c.128G>C (p.Gly43Ala)	TMEM106B (G43A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2615927	NM_001134232.2(TMEM106B):c.141G>T (p.Gln47His)	TMEM106B (Q47H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580502	NM_001134232.2(TMEM106B):c.142T>C (p.Phe48Leu)	TMEM106B (F48L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3178417	NM_001134232.2(TMEM106B):c.146C>T (p.Pro49Leu)	TMEM106B (P49L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1719916	NM_001134232.2(TMEM106B):c.149A>G (p.Tyr50Cys)	TMEM106B (Y50C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 723917	NM_001134232.2(TMEM106B):c.150T>C (p.Tyr50=)	TMEM106B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2585394	NM_001134232.2(TMEM106B):c.167G>T (p.Arg56Ile)	TMEM106B (R56I)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 16	GUncertain significance
Select item 2446679	NM_001134232.2(TMEM106B):c.192T>G (p.Cys64Trp)	TMEM106B (C64W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2314582	NM_001134232.2(TMEM106B):c.216G>C (p.Arg72Ser)	TMEM106B (R72S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2165464	NM_001134232.2(TMEM106B):c.217+1G>C	TMEM106B	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1167234	NM_001134232.2(TMEM106B):c.218-17dup	TMEM106B	Duplication (intron variant)	not provided	GBenign
Select item 2991644	NM_001134232.2(TMEM106B):c.218-16C>T	TMEM106B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1532697	NM_001134232.2(TMEM106B):c.218-7C>T	TMEM106B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2052827	NM_001134232.2(TMEM106B):c.219G>A (p.Gly73=)	TMEM106B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1917594	NM_001134232.2(TMEM106B):c.231A>G (p.Gln77=)	TMEM106B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3370830	NM_001134232.2(TMEM106B):c.256G>T (p.Asp86Tyr)	TMEM106B (D86Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1157980	NM_001134232.2(TMEM106B):c.282-8C>G	TMEM106B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2779250	NM_001134232.2(TMEM106B):c.292G>A (p.Val98Met)	TMEM106B (V98M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1690484	NM_001134232.2(TMEM106B):c.295A>G (p.Met99Val)	TMEM106B (M99V)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1013536	NM_001134232.2(TMEM106B):c.299C>T (p.Ala100Val)	TMEM106B (A100V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341382	NM_001134232.2(TMEM106B):c.322C>G (p.Leu108Val)	TMEM106B (L108V)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 16	GUncertain significance
Select item 3326642	NM_001134232.2(TMEM106B):c.356G>A (p.Arg119His)	TMEM106B (R119H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 751681	NM_001134232.2(TMEM106B):c.357C>T (p.Arg119=)	TMEM106B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968319	NM_001134232.2(TMEM106B):c.363C>A (p.Ile121=)	TMEM106B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2072885	NM_001134232.2(TMEM106B):c.364G>A (p.Asp122Asn)	TMEM106B (D122N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2166938	NM_001134232.2(TMEM106B):c.366C>T (p.Asp122=)	TMEM106B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1307569	NM_001134232.2(TMEM106B):c.386_387del (p.Lys129fs)	TMEM106B (K129fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1170889	NM_001134232.2(TMEM106B):c.401G>A (p.Ser134Asn)	TMEM106B (S134N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1958909	NM_001134232.2(TMEM106B):c.405T>C (p.Tyr135=)	TMEM106B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902939	NM_001134232.2(TMEM106B):c.419G>A (p.Arg140His)	TMEM106B (R140H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2811629	NM_001134232.2(TMEM106B):c.441+5G>T	TMEM106B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1946555	NM_001134232.2(TMEM106B):c.441+11A>G	TMEM106B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1903816	NM_001134232.2(TMEM106B):c.441+15A>G	TMEM106B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1342220	NM_001134232.2(TMEM106B):c.442-44_442-43insGTTT	TMEM106B	Insertion (intron variant)	Leukodystrophy, hypomyelinating, 16	GBenign
Select item 1551415	NM_001134232.2(TMEM106B):c.442-5dup	TMEM106B	Duplication (intron variant)	not provided	GBenign
Select item 1346415	NM_001134232.2(TMEM106B):c.443A>G (p.Asn148Ser)	TMEM106B (N148S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2229552	NM_001134232.2(TMEM106B):c.464A>G (p.Asn155Ser)	TMEM106B (N155S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2191330	NM_001134232.2(TMEM106B):c.480C>G (p.Val160=)	TMEM106B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3005135	NM_001134232.2(TMEM106B):c.481G>A (p.Glu161Lys)	TMEM106B (E161K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253397	NM_001134232.2(TMEM106B):c.487G>C (p.Glu163Gln)	TMEM106B (E163Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576910	NM_001134232.2(TMEM106B):c.508C>T (p.Gln170Ter)	TMEM106B (Q170*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1358507	NM_001134232.2(TMEM106B):c.510A>G (p.Gln170=)	TMEM106B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1806032	NM_001134232.2(TMEM106B):c.523G>A (p.Val175Ile)	TMEM106B (V175I)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 16	GUncertain significance
Select item 2786193	NM_001134232.2(TMEM106B):c.543A>C (p.Leu181Phe)	TMEM106B (L181F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2846423	NM_001134232.2(TMEM106B):c.553_554delinsGG (p.Thr185Gly)	TMEM106B (T185G)	Indel (missense variant)	not provided	GUncertain significance
Select item 1168238	NM_001134232.2(TMEM106B):c.554C>G (p.Thr185Ser)	TMEM106B (T185S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1925499	NM_001134232.2(TMEM106B):c.559A>G (p.Ile187Val)	TMEM106B (I187V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2101969	NM_001134232.2(TMEM106B):c.574A>G (p.Met192Val)	TMEM106B (M192V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2413950	NM_001134232.2(TMEM106B):c.575T>A (p.Met192Lys)	TMEM106B (M192K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1360573	NM_001134232.2(TMEM106B):c.576G>C (p.Met192Ile)	TMEM106B (M192I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1496652	NM_001134232.2(TMEM106B):c.582A>G (p.Gln194=)	TMEM106B	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1636983	NM_001134232.2(TMEM106B):c.583-14C>T	TMEM106B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2070819	NM_001134232.2(TMEM106B):c.583-7C>T	TMEM106B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2485457	NM_001134232.2(TMEM106B):c.599C>T (p.Pro200Leu)	TMEM106B (P200L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2972210	NM_001134232.2(TMEM106B):c.603C>T (p.Thr201=)	TMEM106B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2410414	NM_001134232.2(TMEM106B):c.604G>A (p.Val202Ile)	TMEM106B (V202I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2315146	NM_001134232.2(TMEM106B):c.613G>C (p.Glu205Gln)	TMEM106B (E205Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1989347	NM_001134232.2(TMEM106B):c.632+18A>G	TMEM106B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1569672	NM_001134232.2(TMEM106B):c.632+20_632+22del	TMEM106B	Deletion (intron variant)	not provided	GBenign
Select item 2202262	NM_001134232.2(TMEM106B):c.633-5A>C	TMEM106B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3234816	NM_001134232.2(TMEM106B):c.653C>G (p.Ser218Cys)	TMEM106B (S218C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2469311	NM_001134232.2(TMEM106B):c.680T>C (p.Met227Thr)	TMEM106B (M227T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1965432	NM_001134232.2(TMEM106B):c.686+5G>A	TMEM106B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1342221	NM_001134232.2(TMEM106B):c.686+29T>A	TMEM106B	Single nucleotide variant (intron variant)	Leukodystrophy, hypomyelinating, 16	GBenign
Select item 1899366	NM_001134232.2(TMEM106B):c.687-18C>T	TMEM106B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1664681	NM_001134232.2(TMEM106B):c.687-12_687-11inv	TMEM106B	Inversion (intron variant)	not provided	GLikely benign
Select item 1168270	NM_001134232.2(TMEM106B):c.687-11A>G	TMEM106B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2180017	NM_001134232.2(TMEM106B):c.693T>G (p.Thr231=)	TMEM106B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2437108	NM_001134232.2(TMEM106B):c.697A>G (p.Thr233Ala)	TMEM106B (T233A)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 16	GUncertain significance
Select item 3178418	NM_001134232.2(TMEM106B):c.730T>C (p.Ser244Pro)	TMEM106B (S244P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 726859	NM_001134232.2(TMEM106B):c.753C>T (p.Val251=)	TMEM106B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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