4664[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	LOC125146428, LOC125146429 +400 more	Copy number gain	See cases	GPathogenic
Select item 151527	GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3	APOBR, AQP8 +287 more	Copy number gain	See cases	GLikely pathogenic
Select item 58086	GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3	LOC130058727, LOC130058728 +287 more	Copy number gain	See cases	GPathogenic
Select item 58734	GRCh38/hg38 16p12.2-12.1(chr16:21600992-28323344)x1	AQP8, ARHGAP17 +209 more	Copy number loss	See cases	GPathogenic
Select item 58099	GRCh38/hg38 16p12.2-11.2(chr16:21602183-29314373)x3	OTOA, PALB2 +280 more	Copy number gain	See cases	GPathogenic
Select item 146289	GRCh38/hg38 16p12.2-11.2(chr16:22634385-29227323)x3	APOBR, AQP8 +233 more	Copy number gain	See cases	GLikely pathogenic
Select item 58626	GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3	DCTPP1, DOC2A +409 more	Copy number gain	See cases	GPathogenic
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 59989	GRCh38/hg38 16p12.1(chr16:26966063-28234594)x3	C16orf82, GSG1L +59 more	Copy number gain	See cases	GUncertain significance
Select item 151637	GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	ZNF747, ZNF747-DT +378 more	Copy number gain	See cases	GPathogenic
Select item 2479869	NM_001520.4(GTF3C1):c.6274C>T (p.Arg2092Trp)	GTF3C1 (R2067W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283089	NM_001520.4(GTF3C1):c.6183C>G (p.Phe2061Leu)	GTF3C1 (F2061L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223363	NM_001520.4(GTF3C1):c.6164C>T (p.Pro2055Leu)	GTF3C1 (P2030L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508330	NM_001520.4(GTF3C1):c.6149G>A (p.Arg2050His)	GTF3C1 (R2025H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551995	NM_001520.4(GTF3C1):c.6148C>T (p.Arg2050Cys)	GTF3C1 (R2050C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103146	NM_001520.4(GTF3C1):c.6067C>T (p.Arg2023Cys)	GTF3C1 (R2023C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734345	NM_001520.4(GTF3C1):c.6063G>A (p.Leu2021=)	GTF3C1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 916561	NM_001520.4(GTF3C1):c.6040C>A (p.Pro2014Thr)	GTF3C1 (P2014T +1 more)	Single nucleotide variant (missense variant)	Tracheoesophageal fistula	GLikely pathogenic
Select item 2220446	NM_001520.4(GTF3C1):c.6038G>A (p.Arg2013Lys)	GTF3C1 (R2013K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2554702	NM_001520.4(GTF3C1):c.5953C>T (p.Arg1985Trp)	GTF3C1 (R1985W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103145	NM_001520.4(GTF3C1):c.5917C>T (p.Arg1973Trp)	GTF3C1 (R1948W +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3283091	NM_001520.4(GTF3C1):c.5890G>A (p.Gly1964Arg)	GTF3C1 (G1939R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601817	NM_001520.4(GTF3C1):c.5762C>T (p.Ala1921Val)	GTF3C1 (A1921V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283078	NM_001520.4(GTF3C1):c.5708A>T (p.Asp1903Val)	GTF3C1 (D1903V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283086	NM_001520.4(GTF3C1):c.5690T>A (p.Leu1897His)	GTF3C1 (L1897H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776997	NM_001520.4(GTF3C1):c.5665C>G (p.Gln1889Glu)	GTF3C1 (Q1889E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2548339	NM_001520.4(GTF3C1):c.5662C>T (p.Leu1888Phe)	GTF3C1 (L1888F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103144	NM_001520.4(GTF3C1):c.5660C>T (p.Ala1887Val)	GTF3C1 (A1887V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2362125	NM_001520.4(GTF3C1):c.5656C>T (p.Pro1886Ser)	GTF3C1 (P1886S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375818	NM_001520.4(GTF3C1):c.5633C>A (p.Thr1878Asn)	GTF3C1 (T1878N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239087	NM_001520.4(GTF3C1):c.5599G>A (p.Ala1867Thr)	GTF3C1 (A1867T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386979	NM_001520.4(GTF3C1):c.5591C>T (p.Ala1864Val)	GTF3C1 (A1864V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2566539	NM_001520.4(GTF3C1):c.5588G>A (p.Arg1863His)	GTF3C1 (R1863H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103143	NM_001520.4(GTF3C1):c.5573G>A (p.Arg1858Gln)	GTF3C1 (R1858Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781202	NM_001520.4(GTF3C1):c.5572C>G (p.Arg1858Gly)	GTF3C1 (R1858G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3283093	NM_001520.4(GTF3C1):c.5525G>C (p.Ser1842Thr)	GTF3C1 (S1842T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544394	NM_001520.4(GTF3C1):c.5465G>A (p.Arg1822Lys)	GTF3C1 (R1822K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3283087	NM_001520.4(GTF3C1):c.5445C>A (p.His1815Gln)	GTF3C1 (H1815Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103142	NM_001520.4(GTF3C1):c.5416A>G (p.Met1806Val)	GTF3C1 (M1806V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240282	NM_001520.4(GTF3C1):c.5369A>G (p.Gln1790Arg)	GTF3C1 (Q1790R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284534	NM_001520.4(GTF3C1):c.5362C>G (p.Leu1788Val)	GTF3C1 (L1788V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103141	NM_001520.4(GTF3C1):c.5348G>A (p.Cys1783Tyr)	GTF3C1 (C1783Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2356286	NM_001520.4(GTF3C1):c.5345A>G (p.Asp1782Gly)	GTF3C1 (D1782G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462850	NM_001520.4(GTF3C1):c.5323G>A (p.Gly1775Arg)	GTF3C1 (G1775R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103140	NM_001520.4(GTF3C1):c.5294G>A (p.Arg1765Gln)	GTF3C1 (R1765Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2303622	NM_001520.4(GTF3C1):c.5279A>G (p.Glu1760Gly)	GTF3C1 (E1760G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103139	NM_001520.4(GTF3C1):c.5245A>G (p.Ile1749Val)	GTF3C1 (I1749V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3283095	NM_001520.4(GTF3C1):c.5242G>A (p.Ala1748Thr)	GTF3C1 (A1748T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292011	NM_001520.4(GTF3C1):c.5216T>A (p.Leu1739Gln)	GTF3C1 (L1739Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103138	NM_001520.4(GTF3C1):c.5152A>G (p.Asn1718Asp)	GTF3C1 (N1718D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 808019	NM_001520.4(GTF3C1):c.5124G>A (p.Thr1708=)	GTF3C1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2398486	NM_001520.4(GTF3C1):c.5123C>T (p.Thr1708Met)	GTF3C1 (T1708M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325233	NM_001520.4(GTF3C1):c.5014T>G (p.Ser1672Ala)	GTF3C1 (S1672A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242901	NM_001520.4(GTF3C1):c.5012A>C (p.Asn1671Thr)	GTF3C1 (N1671T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103136	NM_001520.4(GTF3C1):c.5002A>C (p.Ile1668Leu)	GTF3C1 (I1668L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473677	NM_001520.4(GTF3C1):c.4993A>C (p.Asn1665His)	GTF3C1 (N1665H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251575	NM_001520.4(GTF3C1):c.4990C>T (p.Pro1664Ser)	GTF3C1 (P1664S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283080	NM_001520.4(GTF3C1):c.4913C>T (p.Ala1638Val)	GTF3C1 (A1638V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220809	NM_001520.4(GTF3C1):c.4892G>A (p.Arg1631Gln)	GTF3C1 (R1631Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251359	NM_001520.4(GTF3C1):c.4850A>G (p.Asp1617Gly)	GTF3C1 (D1617G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268691	NM_001520.4(GTF3C1):c.4837G>C (p.Glu1613Gln)	GTF3C1 (E1613Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354916	NM_001520.4(GTF3C1):c.4708G>T (p.Ala1570Ser)	GTF3C1 (A1570S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254750	NM_001520.4(GTF3C1):c.4687G>A (p.Gly1563Ser)	GTF3C1 (G1563S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470380	NM_001520.4(GTF3C1):c.4640A>G (p.Gln1547Arg)	GTF3C1 (Q1547R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103135	NM_001520.4(GTF3C1):c.4582G>A (p.Asp1528Asn)	GTF3C1 (D1528N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263680	NM_001520.4(GTF3C1):c.4442G>A (p.Arg1481Gln)	GTF3C1 (R1481Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357345	NM_001520.4(GTF3C1):c.4439G>A (p.Arg1480His)	GTF3C1 (R1480H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548026	NM_001520.4(GTF3C1):c.4393G>A (p.Val1465Met)	GTF3C1 (V1465M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103134	NM_001520.4(GTF3C1):c.4390C>T (p.Leu1464Phe)	GTF3C1 (L1464F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521609	NM_001520.4(GTF3C1):c.4360C>T (p.Arg1454Cys)	GTF3C1 (R1454C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470206	NM_001520.4(GTF3C1):c.4343A>G (p.Gln1448Arg)	GTF3C1 (Q1448R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476011	NM_001520.4(GTF3C1):c.4330A>G (p.Met1444Val)	GTF3C1 (M1444V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234093	NM_001520.4(GTF3C1):c.4268A>G (p.Asp1423Gly)	GTF3C1 (D1423G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370264	NM_001520.4(GTF3C1):c.4211C>T (p.Ala1404Val)	GTF3C1 (A1404V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569974	NM_001520.4(GTF3C1):c.4197G>A (p.Arg1399=)	GTF3C1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2275130	NM_001520.4(GTF3C1):c.4136G>A (p.Ser1379Asn)	GTF3C1 (S1379N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552183	NM_001520.4(GTF3C1):c.4110T>G (p.Phe1370Leu)	GTF3C1 (F1370L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402157	NM_001520.4(GTF3C1):c.4096G>A (p.Glu1366Lys)	GTF3C1 (E1366K)	Single nucleotide variant (missense variant)	Abnormal brain morphology	GLikely pathogenic
Select item 3283090	NM_001520.4(GTF3C1):c.4042G>C (p.Gly1348Arg)	GTF3C1 (G1348R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494614	NM_001520.4(GTF3C1):c.4015G>A (p.Glu1339Lys)	GTF3C1 (E1339K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599824	NM_001520.4(GTF3C1):c.3946G>A (p.Val1316Ile)	GTF3C1 (V1316I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301765	NM_001520.4(GTF3C1):c.3944C>G (p.Ser1315Cys)	GTF3C1 (S1315C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480481	NM_001520.4(GTF3C1):c.3866G>A (p.Gly1289Asp)	GTF3C1 (G1289D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103133	NM_001520.4(GTF3C1):c.3776C>T (p.Thr1259Met)	GTF3C1 (T1259M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283092	NM_001520.4(GTF3C1):c.3734G>A (p.Arg1245His)	GTF3C1 (R1245H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103132	NM_001520.4(GTF3C1):c.3733C>T (p.Arg1245Cys)	GTF3C1 (R1245C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214147	NM_001520.4(GTF3C1):c.3650G>A (p.Arg1217Gln)	GTF3C1 (R1217Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283083	NM_001520.4(GTF3C1):c.3632G>C (p.Gly1211Ala)	GTF3C1 (G1211A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103131	NM_001520.4(GTF3C1):c.3614G>A (p.Arg1205Gln)	GTF3C1 (R1205Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537679	NM_001520.4(GTF3C1):c.3558G>T (p.Glu1186Asp)	GTF3C1 (E1186D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789081	NM_001520.4(GTF3C1):c.3486G>A (p.Lys1162=)	GTF3C1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2223874	NM_001520.4(GTF3C1):c.3442G>T (p.Ala1148Ser)	GTF3C1 (A1148S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2360335	NM_001520.4(GTF3C1):c.3421G>A (p.Ala1141Thr)	GTF3C1 (A1141T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519674	NM_001520.4(GTF3C1):c.3320G>C (p.Gly1107Ala)	GTF3C1 (G1107A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479669	NM_001520.4(GTF3C1):c.3302G>A (p.Arg1101His)	GTF3C1 (R1101H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402448	NM_001520.4(GTF3C1):c.3301C>T (p.Arg1101Cys)	GTF3C1 (R1101C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618389	NM_001520.4(GTF3C1):c.3294T>C (p.Thr1098=)	GTF3C1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2278156	NM_001520.4(GTF3C1):c.3274G>A (p.Ala1092Thr)	GTF3C1 (A1092T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588371	NM_001520.4(GTF3C1):c.3172G>A (p.Val1058Ile)	GTF3C1 (V1058I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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